BURLINA ALBERTO

Curriculum Vitae


Name ALBERTO BURLINA
Address Via Facciolati, 11/b – 35126 PADOVA
Date of birth 02.07.1955
Place of birth Motta di Livenza (TV)

Education 1979: Graduated in Medicine at the University of Padova

State board examination 1982: National Board certification in Paediatrics

Medical License 06897 Ordine dei Medici di Padova

Current responsibilities 2003 to date: Head of the Division of Metabolic Diseases, Department of Pediatrics, University Hospital Padova, Italy
Director of Regional Centre for Inherited Metabolic Diseases, Regione Veneto, Italy

Postdoctoral training 1984-1985: Clinical Research Fellow in the Department of Clinical Chemistry, Hospital for Sick Children, Toronto, Canada

Clinical experience
- 1982-1989 Department of Pediatrics, University of Verona
- 1989-2001 Department of Pediatrics, University of Padova
- 2001 to date Director of the Division of Inherited Metabolic Diseases, University Hospital, Padova


Publications
- 225 original papers
- 20 book chapters

Member of the following scientific societies
- Society for the Study of Inborn Errors of Metabolism (SSIEM)
- Society of Inherited Metabolic Diseases (SIMD)
- European Pediatric Society (EPS)
- Società Italiana per lo Studio Malattie Metaboliche Ereditarie (SIMMESM-SIGEPED)

Current research projects
Research interests include clinical and biochemical characterisation of inborn errors of intermediary metabolism, metabolic diseases in adulthood, and clinical application of tandem mass spectrometry.
Among his major research contributions are:
a) identification of novel diseases (EMA and hyperinsulinism-hyperammoniemia syndrome)
b) developing therapeutic approaches using hepatocyte transplantation
c) neurotransmitter modifications in amino acid disorders.


LIST OF PUBLICATIONS

1. Burlina A, Rizzotti P, Burlina AB.A rapid technique for the amylase isoenzymes demonstration. IRCS Med Sci 8:822,1980.

2. Romeo G, Menozzi P, Ferlini A, Prosperi L, Cerone R, Scalisi S, Romano C,Antonozzi I, Riva E, Piceni Sereni L, Zammarchi E, Lenzi G, Sartorio R, Andria G, Cioni M, Fois A, Burroni M, Burlina AB, Carnevale F. Incidence of classic PKU in Italy estimated from consanguineous marriages and from neonatal screening. Clinical Genetics 24:339-45,1983.

3. Burlina A, Zaninotto M, Marini M, Burlina AB. Adenosine deaminase isoenzymes in serum: an improved spectrophotometric method. IRCS Med Sci 12:931-2,1984.

4. Lombardo A, Goi G, Pistolesi E, Rocca R, Agosti A, Fabi A, Giuliani G, Burlina AB, Tettamanti G.Behaviour of several enzymes of lysosomal origin in human plasma during pregnancy. Clin Chim Acta 143: 253-64,1984.

5. Lombardo A, Goi G, Guagnellini E, Fabi A, Sciorelli G, Burlina AB, Tettamanti G. Behaviour of several enzymes of lysosomal origin in human plasma during whole blood storage. Clin Chim Acta 143: 343-53,1984.

6. Goi G, Achilli F, Caimi L, Lombardo A ,Tettamanti G, Burlina AB, Gaburro D. Levels of some lysosomal activities in newborns. Perspectives in Inherited Metabolic Diseases 5: 249-53,1984.

7. Burlina A, Zaninotto M, Marini M, Burlina AB. Adenosine deaminase isoenzymes in serum: an improved spectrophotometric method. IRCS Med Sci 12:931-2, 1984.

8. Rizzotti P, Cocco C, Burlina A Jr, Marcer V, Plebani M, Burlina A. Macro creatine kinase type 2:a marker of myocardial damage in infants? Clin Biochem 18,4:239-41,1985.

9. Goi G, Fabi A, Lorenzi R, Lombardo A, Tettamanti G, Burlina AB, Pinelli L, Gaburro D. Serum enzymes of lysosomal origin as indicators of the metabolic control in diabetes: comparison with glycated hemoglobin and albumin. Acta Diabetol Lat XXIII,2:117-25,1986.

10. Goi G, Fabi A, Lombardo A,Burlina AB, Tiby V,Visciani A, Malesani L, Tettamanti G.Stability of enzymes of lysosomal origin in human cerebrospinal fluid. Clin Chim Acta163: 215-24,1987.

11. Burlina AB, Goi G, Fabi A, Lombardo A, Gaburro D, Tettamanti G. Behaviour of some lysosomal enzymes in the plasma of insulin dependent diabetic patients during artificial pancreas treatment. Clin Biochem 20: 423-7,1987.

12. Goi G, Lombardo A, Fabi A, Burlina AB, Segalini G, Guagnellini E, Tettamanti G. Serum enzymes of lysosomal origin as indicators of the metabolic control in non-insulin-dependent diabetics. Acta Diabetol Lat 24, 4: 331-40,1987.

13. Goi G, Fabi A,Lombardo A, Burlina AB, Tettamanti G, Montalbetti N, Cavalleri M and Halberg F. Circardian and circannual rhythms of several enzymes of lysosomal origin in plasma. Clin Chim Acta 176, 1-8, 1988.

14. Burlina AB, Sherwood JW, Marchioro MV, Dalla Bernardina B, Gaburro D. Neonatal screening for biotinidase deficiency in North East Italy. Eur J Pediat 147: 317-8,1988.

15. Colamaria V, Burlina AB, Gaburro D, Saudubray JM, Merino RG and Dalla Bernardina B. Biotin-Responsive Infantile Encephalopathy: EEG-Polygraphic Study of a Case. Epilepsia, 24-29, 1989.

16. Burlina AB , Poletto M, Shin YS, Zacchello F. Clinic and biochimical observation on three cases of fructose 1,6-dyphosphatase deficiency. J Inher Metab Dis 13: 263-266, 1990.

17. Burlina AB, Sherwood WG, Zacchello F. Partial biotinidase deficiency associated with Coffin Siris syndrome. Eur J Pediatr 149: 628-629,1990.

18. Burlina AB, Zacchello F, Dionisi-Vici C, Bertini E, Sabetta G,Bennett MJ, Hale D, Schmidt E., Rinaldo P. Biochemical evidence of a branched chain acyl CoA oxidation defect in three patients: a new clinical phenotype. The Lancet, vol. 331, 1506-1507, 1991.

19. Dionisi-Vici C, Burlina AB, Bertini E, Bachmann C, Mazziotta MC, Zacchello F, Sabetta G, Hale D. Progressive neuropathy and recurrent myoglobinuria in a child with long-chain 3-hydroxyacyl-coenzyme a dehydrogenase deficiency. J Pediatr 118, 5, 744-746, 1991.

20. Burlina AB, Bachmann C, Wermuth B, Bordugo A, Ferrari V, Colombo JP, Zacchello F. Partial N-acetyl glutamate synthetase deficiency: a new case with uncontrollable movement disordens. J. Inher Metab. Dis. 15 395-398,1992.

21. Burlina AB, Ferrari V, Dionisi Vici C, Bordugo A, Zacchello F, Tuchman M. Allopurinol challenge test in children.J Inher Metab Dis 15 707-712,1992

22. Bertini E, Dionisi-Vici C, Garavaglia B, Burlina AB, Sabatelli M, Rimoldi M, Bartulli A, Sabetta G, and Di Donato S.
Peripheral sensory-motor polyneuropathy, pigmentary retinopathy, and fatal cardiomyopathy in long-chain 3-Hydroxy-acyl-CoA dehydrogenase deficiency. Eur J Pediatr 151: 121-126, 1992.


23. Mazziotta MRM, Ricci E, Bertini E, Dionisi-Vici C, Servidei S, Burlina AB, Sabetta G, Bartulli A, Manfredi G, Silvestri G, Moraes CT, Di Mauro S. Fatal infantile liver failure associated with mitochondrial DNA depletion. J Pediatr 121: 896-901, 1992.

24. Bennett MJ, Sherwood WG, Gibson KM, Burlina AB. Secondary inhibition of multiple NAD-requiring dehydrogenases in respiratory chain complex I deficiency: possible metabolic markers for the primary defect. J Inher Metab Dis 6: 537-538, 1993.

25. Burlina AB, Milanesi O, Biban P, Bordugo A, Garavaglia B, Zacchello F, Di Mauro S Beneficial effect of sodium dicloracitate in muscle cytochrome a oxidase deficiency. Eur J Pediatr 6: 537-538, 1993.

26. Goi G, Burlina AB, Bairati C, Bordugo A, Zanardo V, Zacchello F, Tettamanti G, Lombardo A. Enzymes of lysosomal origin in plasma of twin neonates. Clin Chim Acta. 214, 61-71, 1993.

27. Goi G, Caputo D,Bairati C, Lombardo A, Burlina AB, Ferrante P, Cazzullo CC, Tettamanti G. Enzymes of lysosomal origin in the Cerebrospinal fluid and plasma of patients with multiple sclerosis. Eur Neurol 33: 1-4, 1993.

28. Drigo P, Burlina AB, Battistella PA. Subdural hematoma and glutaric aciduria type 1. Brain & Develop 15, 460-561, 1993.

29. Burlina AB, Dionisi-Vici C, Bennett MJ, Gibson KM, Juidei S, Bertini E, Hale D, Schmidt-Sommerfeld E, Sabetta G, Zacchello F, Rinaldo P. A new syndrome with ethylmalonic aciduria and normal fatty acid oxidation in fibroblasts. J Pediatr 124, 79-86, 1994.

30. Burlina AB, Rinaldo P. Encephalopathy, petechiae, and acrocyanosis with ethylmalonic aciduria associated with muscle cytochrome c oxidase deficiency J Pediatr 125,843-845,1994 (Letter)

31. Burlina AP, Cavazza A, Ferrari V, Erhard P, Kunnecke K, Sceeling J, Burlina AB. Detection of increased urinary N-acetyl aspartylglutamate in Canavan disease. Eur J Pediatr, 52, 538-539, 1994.

32. Burlina AP, Skaper S, Mazza MR, Ferrari V, Leon A and Burlina AB. N-acetylaspartylglutamate selectively inhibits neuronal responses to N-methyl D-aspartic acid in vitro. J Neurochem 63, 1174-1177, 1994.

33. Ponzone A, Ferrari S, Spada M, Blau N, Piovan S, Burlina A. Combined phenylalanine-tetrahydrobiopterin loading test in GTP cyclohydrolase deficiency. Eur J Pediatr 52, 611-612, 1994.(Letter)

34. Bennett MJ, Weinberger MJ, Sherwood WG and Burlina AB. Secondary 3 hydroxy dicarboxylic aciduria mimicking long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. J Inher Metab Dis 17, 3, 283-286, 1994.

35. Salamino F, Di Lisa F, Burlina AB, Menabò R, Barbato R, De Tullio R, Silprandi N. Involment of erythrocyte calpain in glycine amd carnitine treated isovaleric acidemia. Pediatr Res 36: 182-186, 1994.

36. Parrella T, Surrey S, Iolascone A, Sartore M, Heidenreich R, Framond G, Ponzone A, Guardamagna O, Burlina AB, Cerone R, Parini R, Dionisi-Vici C, Rappeport E and Fortina P. Maple syrupe urine disease (MSUD) screening for known mutations in italian patients. J Inher Metab Dis 17, 652-660,1994.

37. Blau N, Ichinase H, Nagatsu T, Heizmann CW, Zacchello F and Burlina AB. A misseuse mutation in a patient with guanosine triphosphate cyclohydrolase i deficiency missed in the newborn screening program. J Pediatr 126,401-405,1995.
38. chinose H, Ohye T, Matsuda Y, Hori T, Blau N, Burlina AB, Rouse B, Matalon R, Fujita K and Nagatsu T. Characterization of mouse and human GTP cyclohydrolase i genes. J Biol Chem 270, 17,10062-10071,1995.

39. Burlina AB, Bennett MJ, Gregersen N, Dalla Barba B, Zacchello F. Medium-chain acyl coa dehydrogenase deficiency presenting in the neonatal period: the first italian case. Eur J Pediatr 154,950-941,1995.(Letter)

40. Burlina AB, Dionisi-Vici C, Piovan S, Saponara I, Bartuli A, Sabetta G and Zacchello F. Acute pancreatitis in propionic acidemia. J Inher Metab Dis, 18, 169-172, 1995.

41. Mitchell GA, Jakobs C, Gibson KM, Robert MF, Burlina AB, Dionisi-Vici C and Dallaire L. Molecular prenatal diagnosis of 3-hydroxy-3-methylglutaryl coa lyase deficiency. Prenat Diagn 15,725-729,1995.

42. Dianzani I, Giarmattosio S, De Santis SC, Alliaudi C, Cattaurio P, Dionisi-Vici C, Burlina A.B. Burroni M,Sebastio G, Carnevale F, Guzzetta V, Marra E, Camaschella C, Ponzone A. Characterization of phenylaketonuria alleles in the italian population. Eur J Hum Genet 3,294-302,1995.

43. Hoffmann GF, Bohles H, Burlina AB, Duran M, Herewig J, Lenhert W, Leonard J,Mantau A, Plecko-Starting K, Superti Furga A, Tretz FK and Christensen E. Early signs and course of disease of glutaryl-coa dehydrogenase deficiency. J Inher Metab Dis 18,173-176,1995.

44. Lombardo A, Bairati C, Goi G, Roggi C, Maccarini L,Bollini D, Burlina AB Plasma lysosomal glycohydrolases in a general population. Clin Chim Acta 247, 39-49,1996

45. Bennett MJ, Weinberger MJ, Kobouri JA, Rinaldo P, Burlina AB Mithocondrial short-chain l-3-hydroxyacyl-Coenzyme A dehydrogenase deficiency: a new defect of fatty acid oxidation Pediatr Res 39: 185-188, 1996

46. Piva E, De Toni S, Bovo C, Bordugo A, Burlina AB, Plebani M. NADPH oxidase activity and chemotaxis by neutrophilis in two patients with glycogen storage disease type Ib treated with recombinant human granulocyte-monocyte-colony-stimulating factor. Hematologica 81,2:148-151, 1996

47. Burlina AB, Dermikol M, Mantau A, Piovan S, Grazian L, Zacchello F and Shin Y. Increased plasma biotinidase activity in patients with glycogen storage disease type Ia: effect of biotin supplementation J Inher Metab Dis.19,209-212, 1996

48. Caruso U, Adami A,Bertini E,Burlina AB,Carnevale F,Cerone R,Dionisi-Vici C,Giordano G,Leuzzi E,Parenti G,Savasta S,Uziel G and Zeviani M. Respiratory-chain and pyruvate metabolism defects:Italian collaborative survey on 72 patients J. Inher.Metab.Dis. 19:143-148,1996

49. Drigo P,Piovan S,Batistella PA,Dalla Puppa A,Burlina A:B. Macrocephaly,subaracnoid fluid collection and glutaric aciduria type I J. Child Neur 11,5:414-417,1996

50. Dionisi-Vici CD, Garavaglia B, Burlina AB, Bertini E, Saponara I, Sabetta G. Hypoparathyroidism in mitochondrial trifunctional protein deficiency J Pediatr, 129;159-162,1996

51. Simioni-P; Prandoni-P; Burlina-A; Tormene-D; Sardella-C; Ferrari-V; Benedetti-L; Girolami-A Hyperhomocysteinemia and deep-vein thrombosis - A case-control study Thrombosis-and-Haemostasis. 76 (6) : 883-886 1996

52. Hoffmann-GF; Athanassopoulos-S; Burlina-AB; Duran-M; deKlerk-JBC; Lehnert-W; Leonard-JV; Monavari-AA; Muller-E; Muntau-AC; Naughten-ER; PleckoStarting-B; SupertiFurga-A; Zschocke-J; Christensen-E Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiency Neuropediatrics;27 (3) : 115-123 1996

53. Burlina-AP; Ferrari-V; Facci-L; Skaper-SD; Burlina-AB Mast cells contain large quantities of secretagogue-sensitive N-acetylaspartate Journal-of-Neurochemistry.; 69 (3) : 1314-1317 1997

54. Burlina-AB; Gibson-KM; Ruitenbeek-W; Bonafe-L; Bennett MJ. Profound neurological phenotype in a patient presenting with disordered isoleucine and energy metabolism Journal-of-Inherited-Metabolic-Disease. 21 (8) : 864-866,1998

55. Goi-G; Bairati-C; Massaccesi-L; Lombardo-A; Bonafe-L; Zanardo-V; Burlina-A Lysosomal enzymes in preterm infants with bronchopulmonary dysplasia: a potential diagnostic marker Clinica-Chimica-Acta. 278 (1) : 23-34, 1998

56. Pagani-F; Pariyarath-R; Garcia-R; Stuani-C; Burlina-AB; Ruotolo-G; Rabusin-M; Baralle New lysosomal acid lipase gene mutants explain the phenotype of Wolman disease and cholesteryl ester storage disease Journal-of-Lipid-Research. 39 (7) : 1382-1388,1998

57. Stanley-CA; Lieu-YK; Hsu-BYL; Burlina-AB; Greenberg-CR; Hopwood-NJ; Perlman-K; Rich-BH; Zammarchi-E; Poncz-M Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene New-England-Journal-of-Medicine. 338 (19) : 1352-1357,1998

58. Otto-LR; Boriack-RL; Marsh-DJ; Kum-JB; Eng-C; Burlina-AB; Bennett-MJ Long-chain L 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency does not appear to be the primary cause of lipid myopathy in patients with Bannayan-Riley-Ruvalcaba syndrome (BRRS) American-Journal-of-Medical-Genetics. 83 (1) : 3-5,1999

59. Avogaro-A; Calo-L; Piarulli-F; Miola-M; deKreutzenberg-S; Maran-A; Burlina-A; Mingardi-R; Tiengo-A; Del-Prato-S Effect of acute ketosis on the endothelial function of type 1 diabetic patients - The role of nitric oxide Diabetes. 48 (2) : 391-397,1999

60. Goi-G; Bairati-C; Segalini-G; Burlina-AB; Massaccesi-L; Lovagnini-A; Lombardo-A Alterations in the activity of several glycohydrolases in red blood cell membrane from type 2 diabetes mellitus patients Metabolism-Clinical-and-Experimental. Jul 1999; 48 (7) : 817-821

61. Arranz-JA; Riudor-E; Rodes-M; Roig-M; Climent-C; Rubio-V; Sentis-M; Burlina-A Optimization of allopurinol challenge: Sample purification, protein intake control, and the use of orotidine response as a discriminative variable improve performance of the test for diagnosing ornithine carbamoyltransferase deficiency Clinical-Chemistry. Jul 1999; 45 (7) : 995-1001

62. Burlina-AB; Bonafe-L; Zacchello-F Clinical and biochemical approach to the neonate with a suspected inborn error of amino acid and organic acid metabolism Seminars-in-Perinatology. Apr 1999; 23 (2) : 162-173

63. Burlina-AP; Ferrari-V; Divry-P; Gradowska-W; Jakobs-C; Bennett-MJ; Sewell-AC; Dionisi-Vici-C; Burlina-ABN-acetylaspartylglutamate in Canavan disease: an adverse effector? Eur-Journal-Pediatrics. May 1999; 158 (5) : 406-409

64. Vergani L; Barile M; Angelini C; Burlina AB; Nijtmans L; Freda MP; Brizio C; Zerbetto E. Dabbeni Sala FRiboflavin therapy - Biochemical heterogeneity in two adult lipid storage myopathies Brain Dec 1999; 122 (12) : 2401-2411

65. Burlina-AP; Ferrari-V; Divry-P; Gradowska-W; Jakobs-C; Bennett-MJ; Sewell-AC. Dionisi-Vici-C; Burlina-AB N-acetylaspartylglutamate in Canavan disease: an adverse effector? Eur-J-Ped. 1999; 158 (5) : 406-409

66. Jones-PM; Quinn-R; Fennessey-PV; Tjoa-S; Goodman-SI; Fiore-S; Burlina-AB; Rinaldo-P, Boriack-RL Bennett-MJ Improved stable isotope dilution-gas chromatography-mass spectrometry method for serum or plasma free 3-hydroxy-fatty acids and its utility for the study of disorders of mitochondrial fatty acid beta-oxidation Clin Chem. Feb 2000; 46 (2) : 149-155

67. Riudor E., Arranz J.A., Rodes M., Rubio V., Sentis M.,.Burlina A. Influence of dose and age on the response of the alloparinol test for carbamoyltransferase deficiency in control infants J Inher Metab Dis 23 (7) 662-668 2000

68. Burlina A.B., Bonafè L., Ferrari V., Suppiej A., Zacchello F., Burlina A.P. Measurement of neurotransmitter metabolites in the cerebrospinal fluid of phenylketonuric patients under dietary treatment. J Inher Metab Dis 23(4): 313-316. 2000

69. Cesari M., Burlina A, Narkiewicz K., Sartori M.T., Sacchetto A., Rossi G.P. Are fasting plasma homocyst(e)ine levels heritable? A study of normotensive twins Journal of investigative medicine 48 (5) 351-358 2000

70. Favaro A., Caregaro L., Burlina A, Santonastaso P. Tryptophan levels, excessive exercise and nutritional status in anorexia nervosa Psychosomatic medicine 62 (4) 535-538 2000

71. Jones P.M., Burlina A, Bennett M.J. Quantitative measurement of total and free 3-hydroxy fatty acidsin serum or plasma samples short chain 3 - hydroxy fatty acids are not esterified J Inher Metab Dis, 23 (7) 745-750 2000

72. . Cella G., Burlina A, Sharai A., Motta G., Girolami A., Berrettini M., Strass W. Tissue factor pathway inhibitor levels in patients with homocystinuria Thrombosis research 98, (5) 375-381 2000

73. Di Rocco M., Barone R., Adami A., Burlina A, Carrozzi M., Dionisi -Vici C.,Gatti R., Jannetti P., Parini R., Rauchi U., Roccella M., Spada M., Fiumara A. Carbohydrate-deficient glycoprotein syndromes: The Italian experience. J Inher Metab Dis, 23 (4) 391-395 2000

74. Goi G., Bairati C., Burlina A, Massaccesi L., Monciotti C., Segalini G., Testa R., Lombardo A. Plasma glycohydrolase levels in patients with type 1 diabetyes at onset and in subjects undergoing an intravenous glucose tolerance test Metabolism Clinical and Experimental 49 (10): 1352-1355 2000

75. Jones P.M., Quinn R., Fennessey P.V., Tjoa S., Goodman S.I., Fiore S., Burlina A, Rinaldo P. Boriackr.I., Bennett M.J. Improved stable isotope dilution gas cromatography mass spectropetry method for serum or plasma free 3-hydroxy-fatty acids and its utility for the study of disorders of mitochondrial fatty acid beta-oxidation Clin Chem 46 (2), 149-155 2000

76. Bonafè L., Troxder H., Kuster T., Heizmann C.-W., Chamoles N.A. Burlina A.B., Blau N. Evaluation of urinary acylglycines by electrospray tandem mass spectrometry in mitochondrial energy metabolism defects and organic aciduria Molecular Genetics and Metabolism 69 (4) 302-311 2000

77. Salvi S, Santorelli Fm, Bertini E, Boldrini R, Meli C, Donati A, Burlina A.B.,Rizzo C, Di Capua M, Fariello G, Dionisi-Vici C. Clinical and molecular findings in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome. Neurology. 11;57(5):911-4 2001

78. Bonafe L, Blau N, Burlina Ap, Romstad A, Guttler F, Burlina Ab. Treatable neurotransmitter deficiency in mild phenylketonuria. Neurology 11;57(5):908-11 2001

79. Burlina Ab, Ogier H, Korall H, Trefz Fk. Long-term treatment with sodium phenylbutyrate in ornithine transcarbamylase-deficient patients. Mol Genet Metab. 72(4):351-5 2001

80. Giaquinto C, De Romeo A, Giacomet V, Rampon O, Ruga E, Burlina A, De Rossi A, Sturkenboom M, D'elia R. Lactic acid levels in children perinatally treated with antiretroviral agents to prevent HIV transmission. AIDS. 25;15(8):1074-5 2001

81. Burlina AP; Baracchini C; Carollo C; Burlina AB Propionic acidaemia with basal ganglia stroke: Treatment of acute extrapyramidal symptoms with L-DOPA J Inher Metab Dis 596-598 2001

82. Invernizzi F.; Burlina AB.; Donadio A.; Giordano G.; Taroni F.; Garavaglia B. Lethal neonatal presentation of carnitine palmitoyltransferase I deficiency J Inher Metab Dis. 24 (5) : 601-602 2001

83. Burlina A.B., G. Giordano, S. Catuogno, F. Zacchello. The role of tandem mass spectrometry in the diagnosis of metabolic diseases: the experience in the Veneto area. Ital J Pediatr 2001; 27: 766-773 766

84. Cavalleri-F; Berardi-A; Burlina-AB; Ferrari-F; Mavilla-L Diffusion-weighted MRI of maple syrup urine disease encephalopathy Neuroradiology-. JUN 2002; 44 (6) : 499-502

85. Burlina-AP; Edini-C; Burlina-AB Treatment of extrapyramidal symptoms in a patient with homozygous homocystinuria J Inher Metab Dis. 2002; 25 (2) : 135-136

86. Muraca-M; Gerunda-G; Neri-D; Vilei-MT; Granato-A; Feltracco-P; Meroni-M; Giron-G; Burlina-AB Hepatocyte transplantation as a treatment for glycogen storage disease type 1a Lancet-. JAN 26 2002; 359 (9303) : 317-318

87. Dionisi-Vici-C; Rizzo-C; Burlina-AB; Caruso-U; Sabetta-G; Uziel-G; Abeni-D Inborn errors of metabolism in the Italian pediatric population: A national retrospective survey J Ped. 2002; 140 (3) : 321-327

88. Hellerud-C; Burlina-A; Gabelli-C; Ellis-JR; Nyholm-PG; Lindstedt-S Glycerol metabolism and the determination of triglycerides - Clinical, biochemical and molecular findings in six subjectsClin-Chem-Lab-Med. 2003; 41 (1) : 46-55

89. Burlina-AP; Manara-R; Calderone-M; Catuogno-S; Burlina-AB Diffusion-weighted imaging in the assessment of neurological damage in patients with methylmalonic aciduria J Inher Metab Dis 2003; 26 (5) : 417-422

90. Zannolli R, Micheli V, Mazzei MA, Sacco P, Piomboni P, Bruni E, Miracco C, de Santi MM, Terrosi Vagnoli P, Volterrani L, Pellegrini L, Livi W, Lucani B, Gonnelli S, Burlina AB, Jacomelli G, Macucci F, Pucci L, Fimiani M, Swift JA, Zappella M, Morgese G. Hereditary xanthinuria type II associated with mental delay, autism, cortical renal cysts, nephrocalcinosis, osteopenia, and hair and teeth defects. J Med Genet. 2003 Nov;40(11):e121

91. Rugolotto S, Prioli MD, Toniolo D, Pellegrino P, Catuogno S, Burlina AB. Long-term treatment of Barth syndrome with pantothenic acid: a retrospective study. Mol Genet Metab. 2003 Dec;80(4):408-11.

92. Zanardo V, Caroni G, Burlina A. Higher homocysteine concentrations in women undergoing caesarean section under general anesthesia. Thromb Res. 2003;112(1-2):33-6.

93. Zannolli R, Buoni S, Macucci F, Miracco C, de Santi MM, Piomboni P, Bruni E, Malandrini A, Galluzzi P, Hadjistilianou T, Medaglini S, Mazzei MA, Sacco P, Terrosi-Vagnoli P, Volterrani L, Molinelli M, Burlina AB, Swift JA, Fimiani M. Hypertelorism, ptosis, and myopia associated with drug-resistant epilepsy, mental delay, growth deficiency, ectodermal defects, and osteopenia. Am J Med Genet A. 2004 Jun 1;127A(2):212-6.

94. Burlina AB. Hepatocyte transplantation for inborn errors of metabolism. J Inherit Metab Dis. 2004;27(3):373-83.

95. Suormala T, Baumgartner MR, Coelho D, Zavadakova P, Kozich V, Koch HG, Berghaüser M, Wraith JE, Burlina A, Sewell A, Herwig J, Fowler B. The cblD defect causes either isolated or combined deficiency of methylcobalamin and adenosylcobalamin synthesis. J Biol Chem. 2004 Oct 8;279(41):42742-9. Epub 2004 Aug 2.

96. Boltshauser E, Schmitt B, Wevers RA, Engelke U, Burlina AB, Burlina AP. Follow-up of a child with hypoacetylaspartia. Neuropediatrics. 2004 Aug;35(4):255-8.

97. Baldas V, Not T, Tommasini A, Ansaldi F, Demarini S, Sblattero D, Marzari R, Torelli L, Burlina A, Tiribelli C, Ventura A.Anti-transglutaminase antibodies and age.Clin Chem. 2004 Oct;50(10):1856-60.

98. Burlina AP, Zara G, Hoffmann GF, Zschocke J, Burlina AB. Management of movement disorders in glutaryl-CoA dehydrogenase deficiency: anticholinergic drugs and botulinum toxin as additional therapeutic options. J Inherit Metab Dis. 2004;27(6):911-5.

99. Cesari M, Zanchetta M, Burlina A, Pedon L, Maiolino G, Sticchi D, Pessina AC, Rossi GP. Hyperhomocysteinemia is inversely related with left ventricular ejection fraction and predicts cardiovascular mortality in high-risk coronary artery disease hypertensives. Arterioscler Thromb Vasc Biol. 2005 Jan;25(1):115-21. Epub 2004 Nov 4.

100. Maran A, Crepaldi C, Avogaro A, Catuogno S, Burlina A, Poscia A, Tiengo A. Continuous glucose monitoring in conditions other than diabetes. Diabetes Metab Res Rev. 2004 Nov-Dec;20 Suppl 2:S50-5.

101. Ricci R, Castorina M, Di Lillo M, Antuzzi D, Frustaci A, Parini R, Menni F, Furlan F, Burlina A, Burlina A, Catuogno S, Gabrielli O, Burattini I, Borsini W, Buchner S, Ferriozzi S, Spisni C, De Vito R, Di Rocco M, Aricò M, Pistone G, Bongiorno AM, Morrone A, Cavicchi C, Zammarchi E. [Fabry disease in Italy: first epidemiologic and collaborative study Ann Ital Med Int. 2004 Oct-Dec;19(4):269-75. Italian.

102. Zaffanello M, Zamboni G, Maselli M, Gandini A, Camilot M, Maffeis C, Burlina AB, Tatò L. Genetic analysis carried out on blood-spots of phenylalanine hydroxylase-deficient newborns detected by northeastern Italian neonatal screening. Genet Test. 2005 Summer;9(2):133-7.

103. Melis D, Parenti G, Gatti R, Casa RD, Parini R, Riva E, Burlina AB, Vici CD, Di Rocco M, Furlan F, Torcoletti M, Papadia F, Donati A, Benigno V, Andria G. Efficacy of ACE-inhibitor therapy on renal disease in glycogen storage disease type 1: a multicentre retrospective study. Clin Endocrinol (Oxf). 2005 Jul;63(1):19-25.

104. Goi G, Massaccesi L, Burlina AP, Baquero Herrera CJ, Lombardo A, Tettamanti G, Burlina AB. Lysosomal leukocyte beta-D-glucuronidase during enzyme replacement therapy in Fabry disease. Biochim Biophys Acta. 2005 Sep 25;1741(3):300-6.

105. Dardis A, Zampieri S, Filocamo M, Burlina A, Bembi B, Pittis MG. Functional in vitro characterization of 14 SMPD1 mutations identified in Italian patients affected by Niemann Pick Type B disease. Hum Mutat. 2005 Aug;26(2):164.

106. Tiranti V, Briem E, Lamantea E, Mineri R, Papaleo E, De Gioia L, Forlani F, Rinaldo P, Dickson P, Abu-Libdeh B, Cindro-Heberle L, Owaidha M, Jack RM, Christensen E, Burlina A, Zeviani M. ETHE1 mutations are specific to ethylmalonic encephalopathy. J Med Genet. 2006 Apr;43(4):340-6. Epub 2005 Sep 23.

107. Zannolli R, Buoni S, Macucci F, Santi MM, Miracco F, Pierluigi M, Mogni M, Piomboni P, Massafra MR, Galluzzi P, Livi W, Cuccia A, Margollicci MA, Pucci L, Sacco P, Molinelli M, Burlina AB, Swift JA, Fimiani M, Zappella M, Miracco C. Global developmental delay, osteopenia and ectodermal defect: a new syndrome. Brain Dev. 2006 Apr;28(3):155-61. Epub 2005 Dec 20.

108. Muraca M, Burlina AB. Liver and liver cell transplantation for glycogen storage disease type IA. Acta Gastroenterol Belg. 2005 Oct-Dec;68(4):469-72.

109. Cesaro S, Zignol M, Burlina AB, Tridello G, Visintin G, Messina C. Assessment of nephrotoxicity of high-cumulative dose of liposomal amphotericin B in a pediatric patient who underwent allogeneic bone marrow transplantation. Pediatr Transplant. 2006 Mar;10(2):255-8.

110. Burlina AB, Peduto A, Di Palma A, Bellizzi A, Sperlì D, Morrone A, Burlina AP. An unusual clinical and biochemical presentation of ornithine transcarbamylase deficiency in a male patient. J Inherit Metab Dis. 2006 Feb;29(1):179-81.

111. Rossi GP, Maiolino G, Seccia TM, Burlina A, Zavattiero S, Cesari M, Sticchi D, Pedon L, Zanchetta M, Pessina AC. Hyperhomocysteinemia predicts total and cardiovascular mortality in high-risk women. J Hypertens. 2006 May;24(5):851-9.

112. Kölker S, Garbade SF, Greenberg CR, Leonard JV, Saudubray JM, Ribes A, Kalkanoglu HS, Lund AM, Merinero B, Wajner M, Troncoso M, Williams M, Walter JH, Campistol J, Martí-Herrero M, Caswill M, Burlina AB, Lagler F, Maier EM, Schwahn B, Tokatli A, Dursun A, Coskun T, Chalmers RA, Koeller DM, Zschocke J, Christensen E, Burgard P, Hoffmann GF.Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency. Pediatr Res. 2006 Jun;59(6):840-7. Epub 2006 Apr 26.

113. Burlina AP, Schmitt B, Engelke U, Wevers RA, Burlina AB, Boltshauser E. Hypoacetylaspartia: clinical and biochemical follow-up of a patient. Adv Exp Med Biol. 2006;576:283-7; discussion 361-3.

114. Burlina AP, Ferrari V, Burlina AB, Ermani M, Boespflug-Tanguy O, Bertini E; Clinical European Network on Brain Dysmyelinating Disease. N-acetylaspartylglutamate (NAAG) in Pelizaeus-Merzbacher disease. Adv Exp Med Biol. 2006;576:353-9; discussion 361-3.

115. Valente L, Tiranti V, Marsano RM, Malfatti E, Fernandez-Vizarra E, Donnini C, Mereghetti P, De Gioia L, Burlina A, Castellan C, Comi GP, Savasta S, Ferrero I, Zeviani M. Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu. Am J Hum Genet. 2007 Jan;80(1):44-58. Epub 2006 Nov 15. Erratum in: Am J Hum Genet. 2007 Mar;80(3):580.

116. Kölker S, Christensen E, Leonard JV, Greenberg CR, Burlina AB, Burlina AP, Dixon M, Duran M, Goodman SI, Koeller DM, Müller E, Naughten ER, Neumaier-Probst E, Okun JG, Kyllerman M, Surtees RA, Wilcken B, Hoffmann GF, Burgard P. Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I).J Inherit Metab Dis. 2007 Feb;30(1):5-22. Epub 2007 Jan 3.

117. Trevisson E, Salviati L, Baldoin MC, Toldo I, Casarin A, Sacconi S, Cesaro L, Basso G, Burlina AB.Argininosuccinate lyase deficiency: mutational spectrum in Italian patients and identification of a novel ASL pseudogene. Hum Mutat. 2007 Jul;28(7):694-702.

118. Matalon R, Michals-Matalon K, Bhatia G, Burlina AB, Burlina AP, Braga C, Fiori L, Giovannini M, Grechanina E, Novikov P, Grady J, Tyring SK, Guttler F. Double blind placebo control trial of large neutral amino acids in treatment of PKU: effect on blood phenylalanine. J Inherit Metab Dis. 2007 Apr;30(2):153-8. Epub 2007 Feb 27.

119. Sartori S, Burlina AB, Salviati L, Trevisson E, Toldo I, Laverda AM, Burlina AP. Increased level of N-acetylaspartylglutamate (NAAG) in the CSF of a patient with Pelizaeus-Merzbacher-like disease due to mutation in the GJA12 gene. Eur J Paediatr Neurol. 2008 Jul;12(4):348-50. Epub 2007 Sep 18.

120. Zurflüh MR, Zschocke J, Lindner M, Feillet F, Chery C, Burlina A, Stevens RC, Thöny B, Blau N. Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. Hum Mutat. 2008 Jan;29(1):167-75.

121. Regis S, Biancheri R, Bertini E, Burlina A, Lualdi S, Bianco MG, Devescovi R, Rossi A, Uziel G, Filocamo M. Genotype-phenotype correlation in five Pelizaeus-Merzbacher disease patients with PLP1 gene duplications. Clin Genet. 2008 Mar;73(3):279-87. Epub 2007 Jan 9.

122. Burlina AP, Manara R, Caillaud C, Laissy JP, Severino M, Klein I, Burlina A, Lidove O. The pulvinar sign: frequency and clinical correlations in Fabry disease. J Neurol. 2008 May;255(5):738-44. Epub 2008 Feb 26.

123. Zwickler T, Lindner M, Aydin HI, Baumgartner MR, Bodamer OA, Burlina AB, Das AM, DeKlerk JB, Gökcay G, Grünewald S, Guffon N, Maier EM, Morava E, Geb S, Schwahn B, Walter JH, Wendel U, Wijburg FA, Müller E, Kölker S, Hörster F. Diagnostic work-up and management of patients with isolated methylmalonic acidurias in European metabolic centres. J Inherit Metab Dis. 2008 Jun;31(3):361-7. Epub 2008 May 27.

124. Mineri R, Rimoldi M, Burlina AB, Koskull S, Perletti C, Heese B, von Döbeln U, Mereghetti P, Di Meo I, Invernizzi F, Zeviani M, Uziel G, Tiranti V. Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy. J Med Genet. 2008 Jul;45(7):473-8.

125. Trevisson E, Salviati L, Baldoin MC, Casarin A, Basso G, Burlina A. Gene symbol: ASL. Disease: Argininosuccinate lyase deficiency. Hum Genet. 2008 Oct;124(3):303.

126. Fowler B, Burlina A, Kozich V, Vianey-Saban C. Quality of analytical performance in inherited metabolic disorders: the role of ERNDIM. J Inherit Metab Dis. 2008 Dec;31(6):680-9. Epub 2008 Nov 21. Erratum in: J Inherit Metab Dis. 2009 Feb;32(1):127.

127. Burlina A, Blau N. Effect of BH(4) supplementation on phenylalanine tolerance. J Inherit Metab Dis. 2009 Feb;32(1):40-5. Epub 2008 Dec 9.

128. Bortot B, Barbi E, Biffi S, Lunazzi G, Bussani R, Burlina A, Norbedo S, Ventura A, Carrozzi M, Severini GM.Two novel POLG mutations causing hepatic mitochondrial DNA depletion with recurrent hypoketotic hypoglycaemia and fatal liver dysfunction. Dig Liver Dis. 2009 Jul;41(7):494-9. Epub 2009 Feb 4.

129. Meyburg J, Das AM, Hoerster F, Lindner M, Kriegbaum H, Engelmann G, Schmidt J, Ott M, Pettenazzo A, Luecke T, Bertram H, Hoffmann GF, Burlina A. One liver for four children: first clinical series of liver cell transplantation for severe neonatal urea cycle defects.Transplantation. 2009 Mar 15;87(5):636-41.

130. Cermàkovà I, Pettenazzo A, Perrone S, Burlina A, Zannin ME. Grade III lipaemia retinalis in a newborn. Acta Ophthalmol. 2010 Jun;88(4):e141-2. Epub 2009 Jun 26.

131. Hörster F, Garbade SF, Zwickler T, Aydin HI, Bodamer OA, Burlina AB, Das AM, De Klerk JB, Dionisi-Vici C, Geb S, Gökcay G, Guffon N, Maier EM, Morava E, Walter JH, Schwahn B, Wijburg FA, Lindner M, Grünewald S, Baumgartner MR, Kölker S. Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters. J Inherit Metab Dis. 2009 Oct;32(5):630-9. Epub 2009 Jul 31. Erratum in: J Inherit Metab Dis. 2009 Dec;32(6):762-3.

132. Manara R, Burlina AP, Citton V, Ermani M, Vespignani F, Carollo C, Burlina AB. Brain MRI diffusion-weighted imaging in patients with classical phenylketonuria. Neuroradiology. 2009 Dec;51(12):803-12.

133. Trevisson E, Burlina A, Doimo M, Pertegato V, Casarin A, Cesaro L, Navas P, Basso G, Sartori G, Salviati L.Functional complementation in yeast allows molecular characterization of missense argininosuccinate lyase mutations. J Biol Chem. 2009 Oct 16;284(42):28926-34. Epub 2009 Aug 24.

134. Leuzzi V, Carducci CA, Carducci CL, Pozzessere S, Burlina A, Cerone R, Concolino D, Donati MA, Fiori L, Meli C, Ponzone A, Porta F, Strisciuglio P, Antonozzi I, Blau N. Phenotypic variability, neurological outcome and genetics background of 6-pyruvoyl-tetrahydropterin synthase deficiency. Clin Genet. 2010 Mar;77(3):249-57.

135. Willemsen MA, Verbeek MM, Kamsteeg EJ, de Rijk-van Andel JF, Aeby A, Blau N, Burlina A, Donati MA, Geurtz B, Grattan-Smith PJ, Haeussler M, Hoffmann GF, Jung H, de Klerk JB, van der Knaap MS, Kok F, Leuzzi V, de Lonlay P, Megarbane A, Monaghan H, Renier WO, Rondot P, Ryan MM, Seeger J, Smeitink JA, Steenbergen-Spanjers GC, Wassmer E, Weschke B, Wijburg FA, Wilcken B, Zafeiriou DI, Wevers RA. Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis. Brain. 2010 Jun;133(Pt 6):1810-22.

136. Brun L, Ngu LH, Keng WT, Ch'ng GS, Choy YS, Hwu WL, Lee WT, Willemsen MA, Verbeek MM, Wassenberg T, Régal L, Orcesi S, Tonduti D,Accorsi P, Testard H, Abdenur JE, Tay S, Allen GF, Heales S, Kern I, Kato M, Burlina A, Manegold C, Hoffmann GF, Blau N. Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency. Neurology. 2010 Jul 6;75(1):64-71. Epub 2010 May 26. Erratum in: Neurology. 2010 Aug 10;75(6):576.

137. Viscomi C, Burlina AB, Dweikat I, Savoiardo M, Lamperti C, Hildebrandt T, Tiranti V, Zeviani M. Combined treatment with oral metronidazole and N-acetylcysteine is effective in ethylmalonic encephalopathy. Nat Med. 2010 Aug;16(8):869-71.

138. Del Rizzo M, Fanin M, Cerutti A, Cazzorla C, Milanesi O, Nascimbeni AC, Angelini C, Giordano L, Bordugo A, Burlina AB. Long-term follow-up results in enzyme replacement therapy for Pompe disease: a case report. J Inherit Metab Dis. 2010 Sep 10.

139. Parolin G, Drigo P, Toldo I, Boniver C, Gatta M, Burlina A, Laverda AM, Sartori S. Pre- and postprandial electroencephalography in glucose transporter type 1 deficiency syndrome: an illustrative case to discuss the concept of carbohydrate responsiveness. J Child Neurol. 2011 Jan;26(1):103-8.

140. Porta F, Mussa A, Zanin A, Greggio NA, Burlina A, Spada M. Impact of metabolic control on bone quality in phenylketonuria and mild hyperphenylalaninemia. J Pediatr Gastroenterol Nutr. 2011 Mar;52(3):345-50.

141. Veggiotti P, Burlina A, Coppola G, Cusmai R, De Giorgis V, Guerrini R, Tagliabue A, Dalla Bernardina B. The ketogenic diet for Dravet syndrome and other epileptic encephalopathies: an Italian consensus. Epilepsia. 2011 Apr;52 Suppl 2:83-9.

142. Burlina AP, Sims KB, Politei JM, Bennett GJ, Baron R, Sommer C, Møller AT, Hilz MJ. Early diagnosis of peripheral nervous system involvement in Fabry disease and treatment of neuropathic pain: the report of an expert panel. BMC Neurol. 2011 May 27;11:61.

143. Kölker S, Christensen E, Leonard JV, Greenberg CR, Boneh A, Burlina AB, Burlina AP, Dixon M, Duran M, García Cazorla A, Goodman SI, Koeller DM, Kyllerman M, Mühlhausen C, Müller E, Okun JG, Wilcken B, Hoffmann GF, Burgard P.Diagnosis and management of glutaric aciduria type I--revised recommendations. J Inherit Metab Dis. 2011 Jun;34(3):677-94.

144. Massaccesi L, Burlina A, Baquero CJ, Goi G, Burlina AP, Tettamanti G. Whole-blood alpha-D-galactosidase A activity for the identification of Fabry's patients.Clin Biochem. 2011 Jul;44(10-11):916-21.

145. Belmatoug N, Burlina A, Giraldo P, Hendriksz CJ, Kuter DJ, Mengel E, Pastores GM. Gastrointestinal disturbances and their management in miglustat-treated patients. J Inherit Metab Dis. 2011 Oct;34(5):991-1001.

146. Bélanger-Quintana A, Burlina A, Harding CO, Muntau AC. Up to date knowledge on different treatment strategies for phenylketonuria. Mol Genet Metab. 2011;104 Suppl:S19-25.

147. Citton V, Burlina A, Baracchini C, Gallucci M, Catalucci A, Dal Pos S, Burlina A, Manara R. Apparent diffusion coefficient restriction in the white matter: going beyond acute brain territorial ischemia. Insights Imaging. 2012 Apr;3(2):155-64.

148. Giordano C, Viscomi C, Orlandi M, Papoff P, Spalice A, Burlina A, Di Meo I, Tiranti V, Leuzzi V, d'Amati G, Zeviani M. Morphologic evidence of diffuse vascular damage in human and in the experimental model of ethylmalonic encephalopathy. J Inherit Metab Dis. 2012 May;35(3):451-8.

149. Doimo M, Trevisson E, Sartori G, Burlina A, Salviati L. Yeast complementation is sufficiently sensitive to detect the residual activity of ASL alleles associated with mild forms of argininosuccinic aciduria. J Inherit Metab Dis. 2012 May;35(3):557-8.

150. Manara R, Del Rizzo M, Burlina AP, Bordugo A, Citton V, Rodriguez-Pombo P, Ugarte M, Burlina AB. Wernicke-like encephalopathy during classic maple syrup urine disease decompensation. J Inherit Metab Dis. 2012 May;35(3):413-7.

151. Häberle J, Boddaert N, Burlina A, Chakrapani A, Dixon M, Huemer M, Karall D, Martinelli D, Crespo PS, Santer R, Servais A, Valayannopoulos V, Lindner M, Rubio V, Dionisi-Vici C. Suggested guidelines for the diagnosis and management of urea cycle disorders.Orphanet J Rare Dis. 2012 May 29;7:32.

152. Cazzorla C, Del Rizzo M, Burgard P, Zanco C, Bordugo A, Burlina AB, Burlina AP. Application of the WHOQOL-100 for the assessment of quality of life of adult patients with inherited metabolic diseases. Mol Genet Metab. 2012 May;106(1):25-30.

153. Ghezzi D, Baruffini E, Haack TB, Invernizzi F, Melchionda L, Dallabona C, Strom TM, Parini R, Burlina AB, Meitinger T, Prokisch H, Ferrero I, Zeviani M. Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis. Am J Hum Genet. 2012 Jun 8;90(6):1079-87.

154. Patterson MC, Hendriksz CJ, Walterfang M, Sedel F, Vanier MT, Wijburg F; NP-C Guidelines Working Group. Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update. Mol Genet Metab. 2012 Jul;106(3):330-44.

155. Di Meo I, Auricchio A, Lamperti C, Burlina A, Viscomi C, Zeviani M. Effective AAV-mediated gene therapy in a mouse model of ethylmalonic encephalopathy. EMBO Mol Med. 2012 Sep;4(9):1008-14.

156. Jumbo-Lucioni PP, Garber K, Kiel J, Baric I, Berry GT, Bosch A, Burlina A, Chiesa A, Pico ML, Estrada SC, Henderson H, Leslie N, Longo N, Morris AA, Ramirez-Farias C, Schweitzer-Krantz S, Silao CL, Vela-Amieva M, Waisbren S, Fridovich-Keil JL. Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes.J Inherit Metab Dis. 2012 Nov;35(6):1037-49.

157. Piva E, Pelloso M, Ciubotaru D, Penello L, Burlina A, Plebani M.The role of automated analyzers in detecting abnormal granulation of leucocytes in lysosomal storage diseases: Maroteaux-Lamy disease.Am J Hematol. 2012 Dec 19.

158. Doimo M, Desbats MA, Baldoin MC, Lenzini E, Basso G, Murphy E, Graziano C, Seri M, Burlina A, Sartori G, Trevisson E, Salviati L. Functional Analysis of Missense Mutations of OAT, Causing Gyrate Atrophy of Choroid and Retina.Hum Mutat. 2013 Jan;34(1):229-36.

159. Sechi A, Deroma L, Lapolla A, Paci S, Melis D, Burlina A, Carubbi F, Rigoldi M, Di Rocco M. Fertility and pregnancy in women affected by glycogen storage disease type I, results of a multicenter Italian study. J Inherit Metab Dis. 2013 Jan;36(1):83-9.

160. Faletra F, Snider K, Shyng SL, Bruno I, Athanasakis E, Gasparini P, Dionisi-Vici C, Ventura A, Zhou Q, Stanley CA, Burlina A. Co-inheritance of two ABCC8 mutations causing an unresponsive congenital hyperinsulinism: Clinical and functional characterization of two novel ABCC8 mutations. Gene. 2013 Mar 1;516(1):122-5.

161. Zanco C, Cazzorla C, Bordugo A, Giordano L, Manara R, Burlina AB. Metabolic stroke in a late-onset form of isolated sulfite oxidase deficiency. Del Rizzo M, Burlina AP, Sass JO, Beermann F. Mol Genet Metab.; 108(4):263-6, 2013.

162. Cerone R, Andria G, Giovannini M, Leuzzi V, Riva E, Burlina A.. Testing for tetrahydrobiopterin responsiveness in patients with hyperphenylalaninemia due to phenylalanine hydroxylase deficiency. Adv Ther. 30(3): 212-28, 2013.

163. Faletra F, Athanasakis E, Morgan A, Biarnés X, Fornasier F, Parini R, Furlan F, Boiani A, Maiorana A, Dionisi-Vici C, Giordano L, Burlina A, Ventura A, Gasparini P.Congenital hyperinsulinism: clinical and molecular analysis of a large Italian cohort. Gene, 25;521(1):160-5, 2013.

164. Keil S, Anjema K, van Spronsen FJ, Lambruschini N, Burlina A, Bélanger-Quintana A, Couce ML, Feillet F, Cerone R, Lotz-Havla AS, Muntau AC, Bosch AM, Meli CA, Billette de Villemeur T, Kern I, Riva E, Giovannini M, Damaj L, Leuzzi V, Blau N. Pediatrics. Long-term follow-up and outcome of phenylketonuria patients on sapropterin: a retrospective study. Pediatrics,131(6):e1881-8, 2013.

165. Baruffini E, Dallabona C, Invernizzi F, Yarham JW, Melchionda L, Blakely EL, Lamantea E, Donnini C, Santra S, Vijayaraghavan S, Roper HP, Burlina A, Kopajtich R, Walther A, Strom TM, Haack TB, Prokisch H, Taylor RW, Ferrero I, Zeviani M, Ghezzi D. MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast. Hum Mutat, 34(11):1501-9, 2013.

166. Cleary M, Trefz F, Muntau AC, Feillet F, van Spronsen FJ, Burlina A, Bélanger-Quintana A, Giżewska M, Gasteyger C, Bettiol E, Blau N, MacDonald A. Fluctuations in phenylalanine concentrations in phenylketonuria: a review of possible relationships with outcomes. Mol Genet Metab; 110(4):418-23, 2013.

167. Fischer S, Huemer M, Baumgartner M, Deodato F, Ballhausen D, Boneh A, Burlina AB, Cerone R, Garcia P, Gökçay G, Grünewald S, Häberle J, Jaeken J, Ketteridge D, Lindner M, Mandel H, Martinelli D, Martins EG, Schwab KO, Gruenert SC, Schwahn BC, Sztriha L, Tomaske M, Trefz F, Vilarinho L, Rosenblatt DS, Fowler B, Dionisi-Vici C. J Clinical presentation and outcome in a series of 88 patients with the cblC defect. Inherit Metab Dis.; 37(5):831-40, 2014.

168. Camp KM, Parisi MA, Acosta PB, Berry GT, Bilder DA, Blau N, Bodamer OA, Brosco JP, Brown CS, Burlina AB, Burton BK, Chang CS, Coates PM, Cunningham AC, Dobrowolski SF, Ferguson JH, Franklin TD, Frazier DM, Grange DK, Greene CL, Groft SC, Harding CO, Howell RR, Huntington KL, Hyatt-Knorr HD, Jevaji IP, Levy HL, Lichter-Konecki U, Lindegren ML, Lloyd-Puryear MA, Matalon K, MacDonald A, McPheeters ML, Mitchell JJ, Mofidi S, Moseley KD, Mueller CM, Mulberg AE, Nerurkar LS, Ogata BN, Pariser AR, Prasad S, Pridjian G, Rasmussen SA, Reddy UM, Rohr FJ, Singh RH, Sirrs SM, Stremer SE, Tagle DA, Thompson SM, Urv TK, Utz JR, van Spronsen F, Vockley J, Waisbren SE, Weglicki LS, White DA, Whitley CB, Wilfond BS, Yannicelli S, Young JM. Phenylketonuria Scientific Review Conference: state of the science and future research needs. Mol Genet Metab; 112(2): 87-122, 2014.

169. Garbade SF, Greenberg CR, Demirkol M, Gökçay G, Ribes A, Campistol J, Burlina AB, Burgard P, Kölker S. Unravelling the complex MRI pattern in glutaric aciduria type I using statistical models-a cohort study in 180 patients. J Inherit Metab; 37(5): 763-73, 2014.

170. Picca S, Dionisi-Vici C, Bartuli A, De Palo T, Papadia F, Montini G, Materassi M, Donati MA, Verrina E, Schiaffino MC, Pecoraro C, Iaccarino E, Vidal E, Burlina A, Emma F. Short-term survival of hyperammonemic neonates treated with dialysis. Pediatr Nephrol.; 4, 2014.

171. Baumgartner MR, Hörster F, Dionisi-Vici C, Haliloglu G, Karall D, Chapman KA, Huemer M, Hochuli M, Assoun M, Ballhausen D, Burlina A, Fowler B, Grünert SC, Grünewald S, Honzik T, Merinero B, Pérez-Cerdá C, Scholl-Bürgi S, Skovby F, Wijburg F, MacDonald A, Martinelli D, Sass JO, Valayannopoulos V, Chakrapani A. Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia. Orphanet J Rare Dis. 2;9:130, 2014.

172. Cazzorla C, Cegolon L, Burlina AP, Celato A, Massa P, Giordano L, Polo G, Daniele A, Salvatore F, Burlina AB. Quality of Life (QoL) assessment in a cohort of patients with phenylketonuria. BMC Public Health; 4, 14-1243, 2014.

173. Barone R, Carrozzi M, Parini R, Battini R, Martinelli D, Elia M, Spada M, Lilliu F, Ciana G, Burlina A, Leuzzi V, Leoni M, Sturiale L, Matthijs G, Jaeken J, Di Rocco M, Garozzo D, Fiumara A. A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation. J Neurol.; 262(1):154-64, 2015.

174. Trefz FK, van Spronsen FJ, MacDonald A, Feillet F, Muntau AC, Belanger-Quintana A, Burlina A, Demirkol M, Giovannini M, Gasteyger C. Management of adult patients with phenylketonuria: survey results from 24 countries. Eur J Pediatr.; 174(1):119-27, 2015.

175. Kolodny E, Fellgiebel A, Hilz MJ, Sims K, Caruso P, Phan TG, Politei J, Manara R, Burlina A. Cerebrovascular involvement in Fabry disease: current status of knowledge.
Stroke. 2015 Jan.

176. Angelini C, Bembi B, Burlina A, Filosto M, Maioli MA, Morandi LO, Parini R, Pegoraro E, Ravaglia S, Servidei S, Toscano A, Tugnoli V. Changing Characteristics of Late-Onset Pompe Disease Patients in Italy: Data from the Pompe Registry.
J Neuromuscul Dis. 2015.

177. Desbats MA, Vetro A, Limongelli I, Lunardi G, Casarin A, Doimo M, Spinazzi M, Angelini C, Cenacchi G, Burlina A, Rodriguez Hernandez MA, Chiandetti L, Clementi M, Trevisson E, Navas P, Zuffardi O, Salviati L. Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure. Eur J Hum Genet.; 1, 110-1038, 2015.

178. Viggiano E, Marabotti A, Burlina AP, Cazzorla C, D'Apice MR, Giordano L, Fasan I, Novelli G, Facchiano A, Burlina AB. Clinical and molecular spectra in galactosemic patients from neonatal screening in northeastern Italy: Structural and functional characterization of new variations in the galactose-1-phosphate uridyltransferase (GALT) gene. Gene.; 559(2):112-8, 2015.

179. Crow YJ, Chase DS, Lowenstein Schmidt J, Szynkiewicz M, Forte GM, Gornall HL, Oojageer A, Anderson B, Pizzino A, Helman G, Abdel-Hamid MS, Abdel-Salam GM, Ackroyd S, Aeby A, Agosta G, Albin C, Allon-Shalev S, Arellano M, Ariaudo G, Aswani V, Babul-Hirji R, Baildam EM, Bahi-Buisson N, Bailey KM, Barnerias C, Barth M, Battini R, Beresford MW, Bernard G, Bianchi M, Billette de Villemeur T, Blair EM, Bloom M, Burlina AB, Luisa Carpanelli M, Carvalho DR, Castro-Gago M, Cavallini A, Cereda C, Chandler KE, Chitayat DA, Collins AE, Sierra Corcoles C, Cordeiro NJ, Crichiutti G, Dabydeen L, Dale RC, D Arrigo S, De Goede CG, De Laet C, De Waele LM, Denzler I, Desguerre I, Devriendt K, Di Rocco M, Fahey MC, Fazzi E, Ferrie CD, Figueiredo A, Gener B, Goizet C, Gowrinathan NR, Gowrishankar K, Hanrahan D, Isidor B, Kara B, Khan N, King MD, Kirk EP, Kumar R, Lagae L, Landrieu P, Lauffer H, Laugel V, Piana RL, Lim MJ, Lin JP, Linnankivi T, Mackay MT, Marom DR, Marques Lourenço C, McKee SA, Moroni I, Morton JE, Moutard ML, Murray K, Nabbout R, Nampoothiri S, Nunez-Enamorado N, Oades PJ, Olivieri I, Ostergaard JR, Pérez-Dueñas B, Prendiville JS, Ramesh V, Rasmussen M, Régal L, Ricci F, Rio M, Rodriguez D, Roubertie A, Salvatici E, Segers KA, Sinha GP, Soler D, Spiegel R, Stödberg TI, Straussberg R, Swoboda KJ, Suri M, Tacke U, Tan TY, Te Water Naude J, Wee Teik K, Mary Thomas M, Till M, Tonduti D, Maria Valente E, Noel Van Coster R, van der Knaap MS, Vassallo G, Vijzelaar R, Vogt J, Wallace GB, Wassmer E, Webb HJ, Whitehouse WP, Whitney RN, Zaki MS, Zuberi SM, Livingston JH, Rozenberg F, Lebon P, Vanderver A, Orcesi S, Rice GI. Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. Am J Med Genet A.; 2015, 167(2):296-312, 2015.

180. Melis D, Cozzolino M, Minopoli G, Balivo F, Parini R, Rigoldi M, Paci S, Dionisi-Vici C, Burlina A, Andria G, Parenti G. Progression of Renal Damage in Glycogen Storage Disease Type I Is Associated to Hyperlipidemia: A Multicenter Prospective Italian Study. J Pediatr.; 1, (29) , 2015.

181. Wortmann SB, van Hasselt PM, Barić I, Burlina A, Darin N, Hörster F, Coker M, Kalkan Ucar S, Krumina Z, Naess K, Ngu LH, Pronicka E, Riordan G, Santer R, Wassmer E, Zschocke J, Schiff M, de Meirleir L, Alowain MA, Smeitink JA, Morava E, Kozicz T, Wevers RA, Wolf NI, Willemsen MA. Eyes on MEGDEL: Distinctive Basal Ganglia Involvement in Dystonia Deafness Syndrome. Neuropediatrics; 2, 2015.

182. Reunert J, Lotz-Havla AS, Polo G, Kannenberg F, Fobker M, Griese M, Mengel E, Muntau AC, Schnabel P, Sommerburg O, Borggraefe I, Dardis A, Burlina AP, Mall MA, Ciana G, Bembi B, Burlina AB, Marquardt T. Niemann-Pick Type C-2 Disease: Identification by Analysis of Plasma Cholestane-3β,5α,6β-Triol and Further Insight into the Clinical Phenotype. JIMD Rep. 2015.

183. Trefz FK, Muntau AC, Lagler FB, Moreau F, Alm J, Burlina A, Rutsch F, Bélanger-Quintana A, Feillet F; KAMPER investigators. The Kuvan(®) Adult Maternal Paediatric European Registry (KAMPER) Multinational Observational Study: Baseline and 1-Year Data in Phenylketonuria Patients Responsive to Sapropterin.
JIMD Rep. 2015.

184. Aguiar A, Ahring K, Almeida MF, Assoun M, Belanger Quintana A, Bigot S, Bihet G, Blom Malmberg K, Burlina A, Bushueva T, Caris A, Chan H, Clark A, Clark S, Cochrane B, Corthouts K, Dalmau J, Dassy M, De Meyer A, Didycz B, Diels M, Dokupil K, Dubois S, Eftring K, Ekengren J, Ellerton C, Evans S, Faria A, Fischer A, Ford S, Freisinger P, Giżewska M, Gokmen-Ozel H, Gribben J, Gunden F, Heddrich-Ellerbrok M, Heiber S, Heidenborg C, Jankowski C, Janssen-Regelink R, Jones I, Jonkers C, Joerg-Streller M, Kaalund-Hansen K, Kiss E, Lammardo AM, Lang K, Lier D, Lilje R, Lowry S, Luyten K, MacDonald A, Meyer U, Moor D, Pal A, Robert M, Robertson L, Rocha JC, Rohde C, Ross K, Saruhan S, Sjöqvist E, Skeath R, Stoelen L, Ter Horst NM, Terry A, Timmer C, Tuncer N, Vande Kerckhove K, van der Ploeg L, van Rijn M, van Spronsen FJ, van Teeffelen-Heithoff A, van Wegberg A, van Wyk K, Vasconcelos C, Vitoria I, Wildgoose J, Webster D, White FJ, Zweers H. Practices in prescribing protein substitutes for PKU in Europe: No uniformity of approach.
Mol Genet Metab. 2015 May.


185. Adam S, Akroyd R, Bernabei S, Bollhalder S, Boocock S, Burlina A, Coote T, Corthouts K, Dalmau J, Dawson S, Defourny S, De Meyer A, Desloovere A, Devlin Y, Diels M, Dokoupil K, Donald S, Evans S, Fasan I, Ferguson C, Ford S, Forga M, Gallo G, Grünert SC, Heddrich-Ellerbrok M, Heidenborg C, Jonkers C, Lefebure K, Luyten K, MacDonald A, Meyer U, Micciche A, Müller E, Portnoi P, Ripley S, Robert M, Robertson LV, Rosenbaum-Fabian S, Sahm K, Schultz S, Singleton K, Sjöqvist E, Stoelen L, Terry A, Thompson S, Timmer C, Vande Kerckhove K, van der Ploeg L, Van Driessche M, van Rijn M, van Teeffelen-Heithoff A, Vitoria I, Voillot C, Wenz J, Westbrook M, Wildgoose J, Zweers H. How strict is galactose restriction in adults with galactosaemia? International practice.
Mol Genet Metab. 2015 May.

186. Kölker S, Garcia-Cazorla A, Valayannopoulos V, Lund AM, Burlina AB, Sykut-Cegielska J, Wijburg FA, Teles EL, Zeman J, Dionisi-Vici C, Barić I, Karall D, Augoustides-Savvopoulou P, Aksglaede L, Arnoux JB, Avram P, Baumgartner MR, Blasco-Alonso J, Chabrol B, Chakrapani A, Chapman K, I Saladelafont EC, Couce ML, de Meirleir L, Dobbelaere D, Dvorakova V, Furlan F, Gleich F, Gradowska W, Grünewald S, Jalan A, Häberle J, Haege G, Lachmann R, Laemmle A, Langereis E, de Lonlay P, Martinelli D, Matsumoto S, Mühlhausen C, de Baulny HO, Ortez C, Peña-Quintana L, Ramadža DP, Rodrigues E, Scholl-Bürgi S, Sokal E, Staufner C, Summar ML, Thompson N, Vara R, Pinera IV, Walter JH, Williams M, Burgard P. The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation.
J Inherit Metab Dis. 2015 Nov.

187. Kölker S, Valayannopoulos V, Burlina AB, Sykut-Cegielska J, Wijburg FA, Teles EL, Zeman J, Dionisi-Vici C, Barić I, Karall D, Arnoux JB, Avram P, Baumgartner MR, Blasco-Alonso J, Boy SP, Rasmussen MB, Burgard P, Chabrol B, Chakrapani A, Chapman K, Cortès I Saladelafont E, Couce ML, de Meirleir L, Dobbelaere D, Furlan F, Gleich F, González MJ, Gradowska W, Grünewald S, Honzik T, Hörster F, Ioannou H, Jalan A, Häberle J, Haege G, Langereis E, de Lonlay P, Martinelli D, Matsumoto S, Mühlhausen C, Murphy E, de Baulny HO, Ortez C, Pedrón CC, Pintos-Morell G, Pena-Quintana L, Ramadža DP, Rodrigues E, Scholl-Bürgi S, Sokal E, Summar ML, Thompson N, Vara R, Pinera IV, Walter JH, Williams M, Lund AM, Garcia-Cazorla A. The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.
J Inherit Metab Dis. 2015 Nov.
188. Regnault A, Burlina A, Cunningham A, Bettiol E, Moreau-Stucker F, Benmedjahed K, Bosch AM. Development and psychometric validation of measures to assess the impact of phenylketonuria and its dietary treatment on patients' and parents' quality of life: the phenylketonuria - quality of life (PKU-QOL) questionnaires.
Orphanet J Rare Dis. 2015 May 10.

189. Burlina AB, Corsello G. Survey of Italian pediatricians' perspectives and knowledge about neonatal screening.
Ital J Pediatr. 2015 May 29.

190. Kölker S, Cazorla AG, Valayannopoulos V, Lund AM, Burlina AB, Sykut-Cegielska J, Wijburg FA, Teles EL, Zeman J, Dionisi-Vici C, Barić I, Karall D, Augoustides-Savvopoulou P, Aksglaede L, Arnoux JB, Avram P, Baumgartner MR, Blasco-Alonso J, Chabrol B, Chakrapani A, Chapman K, I Saladelafont EC, Couce ML, de Meirleir L, Dobbelaere D, Dvorakova V, Furlan F, Gleich F, Gradowska W, Grünewald S, Jalan A, Häberle J, Haege G, Lachmann R, Laemmle A, Langereis E, de Lonlay P, Martinelli D, Matsumoto S, Mühlhausen C, de Baulny HO, Ortez C, Peña-Quintana L, Ramadža DP, Rodrigues E, Scholl-Bürgi S, Sokal E, Staufner C, Summar ML, Thompson N, Vara R, Pinera IV, Walter JH, Williams M, Burgard P. Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation.
J Inherit Metab Dis. 2015 Nov;38(6):1155-6. No abstract available.

191. Ferdinandusse S, Friederich MW, Burlina A, Ruiter JP, Coughlin CR 2nd, Dishop MK, Gallagher RC, Bedoyan JK, Vaz FM, Waterham HR, Gowan K, Chatfield K, Bloom K, Bennett MJ, Elpeleg O, Van Hove JL, Wanders RJ. Clinical and biochemical characterization of four patients with mutations in ECHS1.
Orphanet J Rare Dis. 2015 Jun 18.

192. Bosch AM, Burlina A, Cunningham A, Bettiol E, Moreau-Stucker F, Koledova E, Benmedjahed K, Regnault A. Assessment of the impact of phenylketonuria and its treatment on quality of life of patients and parents from seven European countries.
Orphanet J Rare Dis. 2015 Jun 18.

193. Giżewska M, MacDonald A, Bélanger-Quintana A, Burlina A, Cleary M, Coşkun T, Feillet F, Muntau AC, Trefz FK, van Spronsen FJ, Blau N. Diagnostic and management practices for phenylketonuria in 19 countries of the South and Eastern European Region: survey results.
Eur J Pediatr. 2016 Feb.

194. Carrozzo R, Verrigni D, Rasmussen M, de Coo R, Amartino H, Bianchi M, Buhas D, Mesli S, Naess K, Born AP, Woldseth B, Prontera P, Batbayli M, Ravn K, Joensen F, Cordelli DM, Santorelli FM, Tulinius M, Darin N, Duno M, Jouvencel P, Burlina A, Stangoni G, Bertini E, Redonnet-Vernhet I, Wibrand F, Dionisi-Vici C, Uusimaa J, Vieira P, Osorio AN, McFarland R, Taylor RW, Holme E, Ostergaard E. Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients.
J Inherit Metab Dis. 2016 Mar.

195. MacDonald A, Ahring K, Almeida MF, Belanger-Quintana A, Blau N, Burlina A, Cleary M, Coskum T, Dokoupil K, Evans S, Feillet F, Giżewska M, Gokmen Ozel H, Lotz-Havla AS, Kamieńska E, Maillot F, Lammardo AM, Muntau AC, Puchwein-Schwepcke A, Robert M, Rocha JC, Santra S, Skeath R, Strączek K, Trefz FK, van Dam E, van Rijn M, van Spronsen F, Vijay S. The challenges of managing coexistent disorders with phenylketonuria: 30 cases.
Mol Genet Metab. 2015 Dec.

196. Polo G, Burlina A, Furlan F, Kolamunnage T, Cananzi M, Giordano L, Zaninotto M, Plebani M, Burlina A. High level of oxysterols in neonatal cholestasis: a pitfall in analysis of biochemical markers for Niemann-Pick type C disease.
Clin Chem Lab Med. 2016 Jul 1.

197. Heringer J, Valayannopoulos V, Lund AM, Wijburg FA, Freisinger P, Barić I, Baumgartner MR, Burgard P, Burlina AB, Chapman KA, I Saladelafont EC, Karall D, Mühlhausen C, Riches V, Schiff M, Sykut-Cegielska J, Walter JH, Zeman J, Chabrol B, Kölker S; additional individual contributors of the E-IMD consortium. Impact of age at onset and newborn screening on outcome in organic acidurias.
J Inherit Metab Dis. 2016 May.

198. Motta M, Tatti M, Furlan F, Celato A, Di Fruscio G, Polo G, Manara R, Nigro V, Tartaglia M, Burlina A, Salvioli R. Clinical, biochemical and molecular characterization of prosaposin deficiency.
Clin Genet. 2016 Sep.

199. Del Rizzo M, Galderisi A, Celato A, Furlan F, Giordano L, Cazzorla C, Fasan I, Moretti C, Zschocke J, Burlina AB. The long-term treatment of a patient with type 1 diabetes mellitus and glutaric aciduria type 1: the effect of insulin.
Eur J Pediatr. 2016 Aug.

200. Diez-Fernandez C, Rüfenacht V, Santra S, Lund AM, Santer R, Lindner M, Tangeraas T, Unsinn C, de Lonlay P, Burlina A, van Karnebeek CD, Häberle J. Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis.
Genet Med. 2016 Oct.

201. Posset R, Garcia-Cazorla A, Valayannopoulos V, Teles EL, Dionisi-Vici C, Brassier A, Burlina AB, Burgard P, Cortès-Saladelafont E, Dobbelaere D, Couce ML, Sykut-Cegielska J, Häberle J, Lund AM, Chakrapani A, Schiff M, Walter JH, Zeman J, Vara R, Kölker S; Additional individual contributors of the E-IMD consortium. Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders.
J Inherit Metab Dis. 2016 Sep.

202. Vanier MT, Gissen P, Bauer P, Coll MJ, Burlina A, Hendriksz CJ, Latour P, Goizet C, Welford RW, Marquardt T, Kolb SA. Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical review.Mol Genet Metab. 2016 Aug.

203. Burlina A, Cazzorla C, Zanonato E, Viggiano E, Fasan I, Polo G. Clinical experience with N-carbamylglutamate in a single-centre cohort of patients with propionic and methylmalonic aciduria.
Mol Genet Metab Rep. 2016 Jul 13;8:34-40. eCollection 2016 Sep.

204. Polo G, Burlina AP, Kolamunnage TB, Zampieri M, Dionisi-Vici C, Strisciuglio P, Zaninotto M, Plebani M, Burlina AB. Diagnosis of sphingolipidoses: a new simultaneous measurement of lysosphingolipids by LC-MS/MS.
Clin Chem Lab Med. 2017 Mar 1.

205. Unsinn C, Das A, Valayannopoulos V, Thimm E, Beblo S, Burlina A, Konstantopoulou V, Mayorandan S, de Lonlay P, Rennecke J, Derbinski J, Hoffmann GF, Häberle J. Clinical course of 63 patients with neonatal onset urea cycle disorders in the years 2001-2013.
Orphanet J Rare Dis. 2016 Aug 19.

206. Pichiecchio A, Rossi M, Cinnante C, Colafati GS, De Icco R, Parini R, Menni F, Furlan F, Burlina A, Sacchini M, Donati MA, Fecarotta S, Casa RD, Deodato F, Taurisano R, Di Rocco M. Muscle MRI of classic infantile pompe patients: Fatty substitution and edema-like changes.
Muscle Nerve. 2017 Jun.

207. Rubio-Gozalbo ME, Bosch AM, Burlina A, Berry GT, Treacy EP; Steering Committee on behalf of all Galactosemia Network representatives. The galactosemia network (GalNet).
J Inherit Metab Dis. 2017 Mar.

208. Welling L, Bernstein LE, Berry GT, Burlina AB, Eyskens F, Gautschi M, Grünewald S, Gubbels CS, Knerr I, Labrune P, van der Lee JH, MacDonald A, Murphy E, Portnoi PA, Õunap K, Potter NL, Rubio-Gozalbo ME, Spencer JB, Timmers I, Treacy EP, Van Calcar SC, Waisbren SE, Bosch AM; Galactosemia Network (GalNet). International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up.
J Inherit Metab Dis. 2017 Mar.

209. Huemer M, Diodato D, Schwahn B, Schiff M, Bandeira A, Benoist JF, Burlina A, Cerone R, Couce ML, Garcia-Cazorla A, la Marca G, Pasquini E, Vilarinho L, Weisfeld-Adams JD, Kožich V, Blom H, Baumgartner MR, Dionisi-Vici C. Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.
J Inherit Metab Dis. 2017 Jan.

210. van Spronsen FJ, van Wegberg AM, Ahring K, Bélanger-Quintana A, Blau N, Bosch AM, Burlina A, Campistol J, Feillet F, Giżewska M, Huijbregts SC, Kearney S, Leuzzi V, Maillot F, Muntau AC, Trefz FK, van Rijn M, Walter JH, MacDonald A. Key European guidelines for the diagnosis and management of patients with phenylketonuria.
Lancet Diabetes Endocrinol. 2017 Sep.

211. Muntau AC, Burlina A, Eyskens F, Freisinger P, De Laet C, Leuzzi V, Rutsch F, Sivri HS, Vijay S, Bal MO, Gramer G, Pazdírková R, Cleary M, Lotz-Havla AS, Munafo A, Mould DR, Moreau-Stucker F, Rogoff D. Efficacy, safety and population pharmacokinetics of sapropterin in PKU patients <4 years: results from the SPARK open-label, multicentre, randomized phase IIIb trial.
Orphanet J Rare Dis. 2017 Mar 9.

212. Viggiano E, Marabotti A, Politano L, Burlina A. Galactose-1-phosphate uridyltransferase deficiency: A literature review of the putative mechanisms of short and long-term complications and allelic variants.
Clin Genet. 2018 Feb.

213. Burlina AB, Celato A, Polo G, Edini C, Burlina AP.The Utility of CSF for the Diagnosis of Primary and Secondary Monoamine Neurotransmitter Deficiencies.
EJIFCC. 2017 Mar 8;28(1):64-76. eCollection 2017 Mar.

214. van Wegberg AMJ, MacDonald A, Ahring K, Bélanger-Quintana A, Blau N, Bosch AM, Burlina A, Campistol J, Feillet F, Giżewska M, Huijbregts SC, Kearney S, Leuzzi V, Maillot F, Muntau AC, van Rijn M, Trefz F, Walter JH, van Spronsen FJ.The complete European guidelines on phenylketonuria: diagnosis and treatment.
Orphanet J Rare Dis. 2017 Oct 12.

215. Bisiacchi P, Mento G, Tarantino V, Burlina A.Subclinical executive function impairment in children with asymptomatic, treated phenylketonuria: A comparison with children with immunodeficiency virus.
Cogn Neuropsychol. 2018 May - Jun.

216. Burlina AB, Polo G, Salviati L, Duro G, Zizzo C, Dardis A, Bembi B, Cazzorla C, Rubert L, Zordan R, Desnick RJ, Burlina AP. Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy.
J Inherit Metab Dis. 2018 Mar.

217. Falsaperla R, Vari MS, Toldo I, Murgia A, Sartori S, Vecchi M, Suppiej A, Burlina A, Mastrangelo M, Leuzzi V, Marchiani V, De Liso P, Capovilla G, Striano P, Vitaliti G; Italian Society of Pediatric Neurology (SINP: Società Italiana di Neurologia Pediatrica). Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases.
Metab Brain Dis. 2018 Feb.

218. Maas RR, Iwanicka-Pronicka K, Kalkan Ucar S, Alhaddad B, AlSayed M, Al-Owain MA, Al-Zaidan HI, Balasubramaniam S, Barić I, Bubshait DK, Burlina A, Christodoulou J, Chung WK, Colombo R, Darin N, Freisinger P, Garcia Silva MT, Grunewald S, Haack TB, van Hasselt PM, Hikmat O, Hörster F, Isohanni P, Ramzan K, Kovacs-Nagy R, Krumina Z, Martin-Hernandez E, Mayr JA, McClean P, De Meirleir L, Naess K, Ngu LH, Pajdowska M, Rahman S, Riordan G, Riley L, Roeben B, Rutsch F, Santer R, Schiff M, Seders M, Sequeira S, Sperl W, Staufner C, Synofzik M, Taylor RW, Trubicka J, Tsiakas K, Unal O, Wassmer E, Wedatilake Y, Wolff T, Prokisch H, Morava E, Pronicka E, Wevers RA, de Brouwer AP, Wortmann SB. Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases.
Ann Neurol. 2017 Dec.

219. Heringer J, Valayannopoulos V, Lund AM, Wijburg FA, Freisinger P, Barić I, Baumgartner MR, Burgard P, Burlina AB, Chapman KA, I Saladelafont EC, Karall D, Mühlhausen C, Riches V, Schiff M, Sykut-Cegielska J, Walter JH, Zeman J, Chabrol B, Kölker S; Additional individual contributors of the E-IMD consortium. Correction to: Impact of age at onset and newborn screening on outcome in organic acidurias.
J Inherit Metab Dis. 2018 Jul.


220. Maines E, Di Palma A, Burlina A. Food triggers and inherited metabolic disorders: a challenge to the pediatrician.
Ital J Pediatr. 2018 Jan 25;44(1):18. Review.

221. Parini R, De Lorenzo P, Dardis A, Burlina A, Cassio A, Cavarzere P, Concolino D, Della Casa R, Deodato F, Donati MA, Fiumara A, Gasperini S, Menni F, Pagliardini V, Sacchini M, Spada M, Taurisano R, Valsecchi MG, Di Rocco M, Bembi B. Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy.
Orphanet J Rare Dis. 2018 Feb 8.

222. Posset R, Garbade SF, Boy N, Burlina AB, Dionisi-Vici C, Dobbelaere D, Garcia-Cazorla A, de Lonlay P, Teles EL, Vara R, Ah Mew N, Batshaw ML, Baumgartner MR, McCandless S, Seminara J, Summar M, Hoffmann GF, Kölker S, Burgard P; Additional individual contributors of the UCDC and the E-IMD consortium. Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders-a successful strategy for clinical research of rare diseases.
J Inherit Metab Dis. 2018 Jul 4.

223. Toldo I, Bonardi CM, Bettella E, Polli R, Talenti G, Burlina A, Sartori S, Murgia A
Brain malformations associated to Aldh7a1 gene mutations: Report of a novel homozygous mutation and literature review.
Eur J Paediatr Neurol. 2018 Jul 3.

224. Repp BM, Mastantuono E, Alston CL, Schiff M, Haack TB, Rötig A, Ardissone A, Lombès A, Catarino CB, Diodato D, Schottmann G, Poulton J, Burlina A, Jonckheere A, Munnich A, Rolinski B, Ghezzi D, Rokicki D, Wellesley D, Martinelli D, Wenhong D, Lamantea E, Ostergaard E, Pronicka E, Pierre G, Smeets HJM, Wittig I, Scurr I, de Coo IFM, Moroni I, Smet J, Mayr JA, Dai L, de Meirleir L, Schuelke M, Zeviani M, Morscher RJ, McFarland R, Seneca S, Klopstock T, Meitinger T, Wieland T, Strom TM, Herberg U, Ahting U, Sperl W, Nassogne MC, Ling H, Fang F, Freisinger P, Van Coster R, Strecker V, Taylor RW, Häberle J, Vockley J, Prokisch H, Wortmann S. Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
Orphanet J Rare Dis. 2018 Jul 19.

225. Cazzorla C, Bensi G, Biasucci G, Leuzzi V, Manti F, Musumeci A, Papadia F, Stoppioni V, Tummolo A, Vendemiale M, Polo G, Burlina A Living with phenylketonuria in adulthood: The PKU ATTITUDE study. Mol Genet Metab Rep. 2018 Jul 11.


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