PUBBLICAZIONI IN ESTENSO SU RIVISTE NAZIONALI O INTERNAZIONALI

1)     E. CIAFALONI, E. RICCI, S. SHANSKE, C.T. MORAES, G. SILVESTRI, M. HIRANO, S. SIMONETTI, C. ANGELINI, M.A. DONATI, C. GARCIA, A. MARTINUZZI, R. MOSEWICH, S. SERVIDEI, E. ZAMMARCHI, E. BONILLA, .C. DE VIVO, L.P. ROWLAND, E.A. SCHON, S. DI MAURO: MELAS: Clinical features, Biochemistry, and Molecular Genetics. Ann. Neurol. 31:391-398,1992.

2)    P. PICCO, L. LEVERATTO, A. CAMA, M.A. VIGLIAROLO, G.L. LEVATO, M. GATTORNO, E. ZAMMARCHI, M.A. DONATI: Immotile Cilia Syndrome Associated with Hydrocephalus and Precocious Puberty: A Case Report. Eur J Pediatric Surg 3:20-21,1993

3)    C. FONDA, E. ZAMMARCHI, M.A. DONATI, B. BERNARDI, S. BAYON: RM in iperphenylalaninemia da deficit di DHPR: presentazione di un caso. In U. Salvolini ed. Neuroradiologia, Ed del Centauro, 325-332,1993.

4)    T. BACCETTI, L. PIERLEONI, L. FILIPPI, M.A. DONATI, I. TOLLARO, E. ZAMMARCHI: Dental and craniofacial findings in a child affected by glycogen storage disease type III. J. Clin. Ped. Dentistry 19:55-60, 1994

5)    L. FILIPPI, E. ZAMMARCHI, M.A. DONATI, E. PASQUINI: Il cataterismo pancreatico transepatico percutaneo nella diagnosi di iperinsulinismo in un paziente. Riv. Ital. Pediatr. 20:59-62, 1994

6)    E. ZAMMARCHI, M.A. DONATI, F.TUCCI, C. FONDA, F. FANELLI, R. PAZZAGLIA: Acute onset of X-linked adrenoleukodystrophy mimicking encephalitis. Brain Dev JPN 16:238-240,1994

7)    E. ZAMMARCHI, M.A. DONATI, S. MASI, A. SARTI, S. CASTELLI: Familial infantile myasthenia: a neuromuscular cause of respiratory failure. Child's Nerv Syst 10:347-349,1994

8)    E. ZAMMARCHI, A. SAVELLI, M.A. DONATI, E. PASQUINI: Self-mutilation in a patient with mucolipidosis III. Pediatr Neurol 11:68-70,1994.

9)    E. ZAMMARCHI, M.A. DONATI, L. FILIPPI, A. MORRONE, T. REPETTO, G. MASCOLO, L. COMELLINI: Ipertransaminasemia e difetto di ornitinatranscarbamilasi. Riv Ital Pediatr 21:82-87,1995.

10)   E. ZAMMARCHI, M.A DONATI, F. CIANI, E. PASQUINI, I. PELA, P. FIORINI: Failure of early dextromethorphan and sodium benzoate therapy in an infant with nonketotic hyperglycinemia. Neuropediatrics 25:274-276,1994

11)    E. Zammarchi, M. A. Donati, F. Ciani: Transient Neonatal Nonketotic Hyperglycinemia: a 13- year Follow Up. Neuropediatrics 26:328-330, 1995.

12)   E. Zammarchi, M. A. Donati, F. Ciani, P. Rubetti, E. pasquini: Fructose-1,6-diphosphatase deficiency misdiagnosed as Reye syndrome. Clin. Pediatr. 34:561-564, 1995.

13)   m. de martino, e. Zammarchi, L. FILIPPI, m.a. donati, f. mannelli, l. galli, a. vierucci: Redox potential status in children with perinatal HIV-1 infection treated with   zidovudine. AIDS 9: 1381-1383, 1995.

14) E. Zammarchi, L. FILIPPI, C fonda, p.a. benedetti, d. pistone, m.a. donati: Different neurologic outcomes in two patients with neonatal hyperinsulinemic hypoglycemia. Chil Nerv Syst 12:413-416, 1996.

15)   L. FILIPPI, M. A. Donati, E. Novembre, E. Zammarchi: Lo studio dello stato di ossidoriduzione cellulare nella diagnosi delle malattie mitocondriali. Riv Ital Pediatr 22:88-92,1996.

16)   E. Zammarchi, M. A. Donati, L. FILIPPI, M. RESTI: Cryptogenic Hepatitis Masking the Diagnosis of Ornithine Transcarbamylase Deficiency. J Pediatr Gastr Nutr 22:380-383, 1996.

17)   E. Zammarchi, M. A. Donati, A. Morrone, G.P. donzelli, x.y. zhou, a. d’azzo:

Early-infantile galactosialidosis: clinical, biochemical, and molecular observations in a new case. Am J Med Genet. 64: 453-458, 1996.

18)   E. Zammarchi, L. FILIPPI,E. NOVEMBRE,M. A. Donati: Biochemical evaluation of a patient with a familial form of Leucine-sensitive Hypoglicemia and concomitant Hyperammonemia. Metabolism 45:957-960, 1996.

19)   E. Zammarchi, M. A. Donati, E. PASQUINI, F. CIANI, S. LORI, C. FONDA: Electromyographic alterations in Hyperphenylalaninemia due to Dihydropteridine Reductase deficiency. J Child Neurol. 12:137-139, 1997.

20)   A. MORRONE, E. ZAMMARCHI, M.A. DONATI; P.C. SCHACHERI, R.C. HOOP, S. SERVIDEI, G. GALLUZZI, E. P. HOFFMAN: Asymptomatic dystrophinopathy. Am J Med Genet: 69:261-267, 1997.

21) MORA M, CARTEGNI L, DI BLASI C, BARRESI R, BIONE S, RAFFAELE DI BARLETTA M,MORANDI L, MERLINI L, NIGRO V, POLITANO L, DONATI MA, CORNELIO F, COBIANCHI F,TONIOLO D: X-linked Emery-Dreifuss muscular dystrophy can be diagnosed from skin biopsy or blood sample. Ann Neurol. 1997 Aug;42(2):249-53.

22) BACCETTI T, DEFRAIA E, DONATI MA.: Craniofacial abnormalities associated with congenital fiber type disproportion myopathy. J Clin Pediatr Dent. 1997 Winter;21(2):167-71.

23)   E. Zammarchi, F. CIANI, E. PASQUINI, G. BONOCORE, v.e. SHIH, M. A. Donati:

Neonatal onset of hyperonithinemia-hyperammonemia-homocitrulli-nuria syndrome with favorable outcome. J Pediatr 131:440-443,1997.

24)   F.CIANI, E. PASQUINI, A. CIARDETTI, M.A. DONATI, E. ZAMMARCHI: Le iperglicinemie nella pratica clinico-laboratoristica. Ped Med Chir 19:109-112,1997.

25)   P. D'Adamo, L. Fassone, A. Gedeon, E.A. Janssen, S. Bione, P.A. Bolhuis, P.G. Barth, M. Wilson, E. Haan, K.H. Orstavik, M.A. Patton, A.J. Green,; E. Zammarchi, M.A. Donati, D. Toniolo: The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies. Am J Hum Genet 61(4):862-7,1997.

26) MINETTI C, SOTGIA F, BRUNO C, SCARTEZZINI P, BRODA P, BADO M, MASETTI E, MAZZOCCO M, EGEO A, DONATI MA, VOLONTE D, GALBIATI F, CORDONE G, BRICARELLI FD, LISANTI MP, ZARA F.: Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. Nat Genet. 1998 Apr;18(4):365-8.

27) PATRIZI AL, TIZIANO F, ZAPPATA S, DONATI MA, NERI G, BRAHE C.: SMN protein analysis in fibroblast, amniocyte and CVS cultures from spinal muscular atrophy patients and its relevance for diagnosis. Eur J Hum Genet. 1999 Apr;7(3):301-9.

28)   A. BETTINELLI, R. RUSCONI, S. CIARMATORI, V. RIGHINI, E. ZAMMARCHI, M.A. DONATI, C. ISIMBALDI, M. BEVILACQUA, L. CESAREO, S. TEDESCHI, G. GARAVAGLIA, G. CASARI: Gitelman Disease Associated with Growth Hormone Deficiency, Disturbances in Vasopressin Secretion and Empty Sella: A New Hereditary Renal Tubular_Pituitary Syndrome? Pediatr Res 46:232-238,1999.

29)   P.G. POGGI, F. CIANI, M.A. DONATI, I. PELA, M. MATERASSI, F. GALLUZZI, E. ZAMMARCHI: Iperammoniemia causata da infezione da Proteus vulgaris in sindrome di Prune Belly. Riv Ital Pediatr 25: 1128-1131, 1999.

30)   A. MORRONE, T. BARDELLI, M.A. DONATI, M. GIORGI, M. DI ROCCO, R. GATTI, R. PARINI, R. RICCI, G. TADDEUCCI, A. d’AZZO, E. ZAMMARCHI: ß-Galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement. Hum Mut 15: 354-366, 2000

31)   M. GIORGI, A. MORRONE, M.A. DONATI, F. CIANI, T. BARDELLI, G. BIASUCCI, E. ZAMMARCHI: Lymphocytes mRNA analysis of the Ornithine Transcarbamilase gene in Italian OTCD male patients and manifesting carriers: identification of novel mutations. Hum Mutat (Online) 15:380-1, 2000.

32)   F. CIANI, G.M. POGGI, E. PASQUINI, M.A. DONATI, E. ZAMMARCHI: Prolonged exclusive breast-feeding from vegan mother causing an acute onset of isolated methylmalonic aciduria due to a mild mutase deficiency. Clin Nutr 19:137-139, 2000.

33)   F. CIANI, M.A. DONATI, G. TULLI, G.M. POGGI, E. PASQUINI, D.S. ROSENBLATT, E. ZAMMARCHI: Lethal late onset cblB methylmalonic aciduria. Crit Care Med 28:2119-2121, 2000.

34)   E.J. BONTEN, W.F. ARTS, M. BECK, A. COVANIS, M.A. DONATI, R. PARINI, E. ZAMMARCHI, A. D'AZZO: Novel mutations in lysosomal neuraminidase identify functional domains and determine clinical severity in sialidosis. Hum Mol Genet 9: 2715-2725, 2000.

35) NISHINO I, SPINAZZOLA A, PAPADIMITRIOU A, HAMMANS S, STEINER I, HAHN CD, CONNOLLY AM, VERLOES A, GUIMARAES J, MAILLARD I, HAMANO H, DONATI MA, SEMRAD CE, RUSSELL JA, ANDREU AL, HADJIGEORGIOU GM, VU TH, TADESSE S, NYGAARD TG, NONAKA I, HIRANO I, BONILLA E, ROWLAND LP, DI MAURO S, HIRANO M.: Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations. Ann Neurol. 2000 Jun;47(6):792-800.

36) G.M. POGGI, E. LAMANTEA, F. CIANI, M.A. DONATI, L. BARTALENA, B. GARAVAGLIA, E. ZAMMARCHI: Fatal neonatal outcome in a case of muscular mitochondrial DNA depletion. J Inherit Metab Dis 23:755-757, 2000.

37) S. FUNGHINI, E. PASQUINI, M. CAPPELLINI, M.A. DONATI, A. MORRONE, C. FONDA, E. ZAMMARCHI: 3-Hydroxy-3-methylglutaric Aciduria in an Italian Patient Is Caused by a New Nonsense Mutation in the HMGCL Gene. Mol Genet Metab 73:268-275, 2001.

38) I. Pela, MA. Donati, E. Zammarchi: Effect of ramipril in a patient with glycogen storage disease type I and nephrotic-range proteinuria. J Inherit Metab Dis 24:681-2,2001.

39) SALVI S, SANTORELLI FM, BERTINI E, BOLDRINI R, MELI C, DONATI A, BURLINA AB, RIZZO C, DI CAPUA M, FARIELLO G, DIONISI-VICI C: Clinical and molecular findings in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome. Neurology. 2001 Sep 11;57(5):911-4.

40) A. Spinazzola, R. Marti, I. Nishino, AL. Andreu, A. Naini, S. Tadesse, I. Pela, E. Zammarchi E, MA. Donati, JA. Oliver, M. Hirano: Altered thymidine metabolism due to defects of thymidine phosphorylase. J Biol Chem 277:4128-33,2002.

41) A. MORRONE, S. MALVAGIA, M.A. DONATI, S. FUNGHINI, F. CIANI, I. PELA, A. BONEH, H. PETERS, E. PASQUINI, E. ZAMMARCHI: Clinical Findings, Biochemical and Molecular Analysis of Four Patients with Holocarboxylase Synthetase Deficiency. Am. J. Med. Genet 2002 111:10-18 (I.F. 2.37)

42) S. FUNGHINI, M.A.DONATI, E. PASQUINI,  S. GASPERINI, F.CIANI, A. MORRONE, E. ZAMMARCHI: Two new mutations in children affected by partial biotinidase deficiency ascertained by newborn screening. J Inher Metab Dis 2002; 25: 328-330 (I.F. 1.79)

43) BISANZI S, MORRONE A, DONATI MA, PASQUINI E, SPADA M, STRISCIUGLIO P, PARENTI G, PARINI R, PAPADIA F, ZAMMARCHI E.: Genetic analysis in nine unrelated Italian patients affected by OTC deficiency: detection of novel mutations in the OTC gene. Mol Genet Metab. 2002 Jun;76(2):137-44. (I.F.2.34)

44) VENTURI N, ROVELLI A, PARINI R, MENNI F, BRAMBILLASCA F, BERTAGNOLIO F, UZIEL G, GATTI R, FILOCAMO M, DONATI MA, BIONDI A, GOLDWURM S.: Molecular analysis of 30 mucopolysaccharidosis type I patients: evaluation of the mutational spectrum in Italian population and identification of 13 novel mutations. Hum Mutat. 2002 Sep;20(3):231.

45) BARDELLI T, DONATI M.A, GASPERINI S, CIANI F, BELLI F, BLAU N, MORRONE A, ZAMMARCHI E: Two novel genetic lesions and a common BH(4)-responsive mutation of the PAH gene in Italian patients with hyperphenylalaninemia. Mol Genet Metab 2002 Nov;77(3):260-6

46) LUCCHIARI S, DONATI MA, PARINI R, MELIS D, GATTI R, BRESOLIN N, SCARLATO G, COMI GP. Molecular characterisation of GSD III subjects and identification of six novel mutations in AGL. Hum Mutat. 2002 Dec;20(6):480.

47) M.A. DONATI, S. MALVAGIA, E. ZAMMARCHI: Nuove Malattie Metaboliche. Prospettive in Pediatria 2002; 32:273-282

48) CACIOTTI A, MORRONE A, DOMENICI R, DONATI MA, ZAMMARCHI E. Severe prognosis in a large family with hypokalemic periodic paralysis. Muscle Nerve. 2003 Feb;27(2):165-9.

49) MALVAGIA S, POGGI G. M., PASQUINI E., DONATI M.A., PELA I., MORRONE A., ZAMMARCHI E.: The de novo Q167K mutation in the POU1F1 gene leads to combined pituitary hormone deficiency in an Italian patient. Pediatr Res. 2003 Nov;54(5):635-40. Epub 2003 Aug 06.

50) FUNGHINI S, DONATI MA, PASQUINI E, ZAMMARCHI E, MORRONE A.: Structural organization of the human carbamyl phosphate synthetase I gene (CPS1) and identification of two novel genetic lesions. Hum Mutat. 2003 Oct;22(4):340-1. 

51) LUCCHIARI S, DONATI MA, MELIS D, FILOCAMO M, PARINI R, BRESOLIN N, COMI GP. Mutational analysis of the AGL gene: five novel mutations in GSD III patients. Hum Mutat. 2003 Oct;22(4):337.

52) LA MARCA G, MALVAGIA S, DONATI MA, MORRONE A, PASQUINI E, ZAMMARCHI E. Rapid diagnosis of medium chain Acyl Co-A dehydrogenase (MCAD) deficiency in a newborn by liquid chromatography/tandem mass spectrometry. Rapid Commun Mass Spectrom. 2003;17(23):2688-92.

53) COSMA MP, PEPE S, PARENTI G, SETTEMBRE C, ANNUNZIATA I, WADE-MARTINS R, DI DOMENICO C, DI NATALE P, MANKAD A, COX B, UZIEL G, MANCINI M.S.G., DONATI M.A, KLEIJER W.J, FILOCAMO M., BALLABIO A: Molecular e functional analysis of SUMF1 mutations in Multiple Sulfatase Deficiency. Human Mutation Hum Mutat. 2004 Jun;23(6):576-81.

54) MALVAGIA S, MORRONE A, CACIOTTI A, BARDELLI T, D'AZZO A, ANCORA G, ZAMMARCHI E, DONATI MA.: New mutations in the PPBG gene lead to loss of PPCA protein which affects the level of the beta-galactosidase/neuraminidase complex and the EBP-receptor. Mol Genet Metab. 2004 May;82(1):48-55.

55) BUGIANI M, INVERNIZZI F, ALBERIO S, BRIEM E, LAMANTEA E, CARRARA F, MORONI I, FARINA L, SPADA M, DONATI MA, UZIEL G, ZEVIANI M.: Clinical and molecular findings in children with complex I deficiency. Biochim Biophys Acta. 2004 Dec 6;1659(2-3):136-47.

56)      BRUNO C, VAN DIGGELEN OP, CASSANDRINI D, GIMPELEV M, GIUFFRE B, DONATI MA, INTROVINI P, ALEGRIA A, ASSERETO S, MORANDI L, MORA M, TONOLI E, MASCELLI S, TRAVERSO M, PASQUINI E, BADO M, VILARINHO L, VAN NOORT G, MOSCA F, DIMAURO S, ZARA F, MINETTI C.: Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV). Neurology. 2004 Sep 28;63(6):1053-8.

57)      COSMA MP, PEPE S, PARENTI G, SETTEMBRE C, ANNUNZIATA I, WADE-MARTINS R, DI DOMENICO C, DI NATALE P, MANKAD A, COX B, UZIEL G, MANCINI GM, ZAMMARCHI E, DONATI MA, KLEIJER WJ, FILOCAMO M, CARROZZO R, CARELLA M, BALLABIO A.: Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency. Hum Mutat. 2004 Jun;23(6):576-81. 

58)      CACIOTTI A, DONATI MA, BARDELLI T, D'AZZO A, MASSAI G, LUCIANI L, ZAMMARCHI E, MORRONE A.: Primary and secondary elastin-binding protein defect leads to impaired elastogenesis in fibroblasts from GM1-gangliosidosis patients. Am J Pathol. 2005 Dec;167(6):1689-98. 

59)      MALVAGIA S, MORRONE A, PASQUINI E, FUNGHINI S, LA MARCA G, ZAMMARCHI E, DONATI MA.:  First prenatal molecular diagnosis in a family with holocarboxylase synthetase deficiency. Prenat Diagn. 2005 Dec;25(12):1117-9. 

60)      BERTINI E, DONATI MA, BRODA P, CASSANDRINI D, PETRINI S, DIONISI-VICI C, BALLERINI L, BOLDRINI R, D'AMICO A, PASQUINI E, MINETTI C, SANTORELLI FM, BRUNO C.: Phenotypic heterogeneity in two unrelated Danon patients associated with the same LAMP-2 gene mutation. Neuropediatrics. 2005 Oct;36(5):309-13. 

61)       FUNGHINI S, MORRONE A, PASQUINI E, ZAMMARCHI E, DONATI MA. Successful prenatal molecular diagnosis of carbamyl-phosphate synthetase I deficiency in two at-risk pregnancies. J Inherit Metab Dis. 2005;28:801-2. 

62)      LA MARCA G, MALVAGIA S, PASQUINI E, DONATI MA, GASPERINI S, PROCOPIO E, ZAMMARCHI E.: Hyperhydroxyprolinaemia: a new case diagnosed during neonatal screening with tandem mass spectrometry. Rapid Commun Mass Spectrom. 2005;19(6):863-4. 

63)      CACIOTTI A, DONATI MA, BONEH A, D'AZZO A, FEDERICO A, PARINI R, ANTUZZI D, BARDELLI T, NOSI D, KIMONIS V, ZAMMARCHI E, MORRONE A.: Role of beta-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis. Hum Mutat. 2005 Mar;25(3):285-92. 

64)      CASTORI M, VALENTE EM, DONATI MA, SALVI S, FAZZI E, PROCOPIO E, GALLUCCIO T, EMMA F, DALLAPICCOLA B, BERTINI E; Italian MTS Study Group.: NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders. J Med Genet. 2005 Feb;42(2):e9.

65)      CAVICCHI C, DONATI MA, PASQUINI E, POGGI GM, DIONISI-VICI C, PARINI R, ZAMMARCHI E, MORRONE A.: Mutational spectrum in ten Italian patients affected by methylmalonyl-CoA mutase deficiency. J Inherit Metab Dis. 2005;28(6):1175-8. 

66)      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. 

67)       FERRARI G, LAMANTEA E, DONATI A, FILOSTO M, BRIEM E, CARRARA F, PARINI R, SIMONATI A, SANTER R, ZEVIANI M.: Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA. Brain. 2005 Apr;128(Pt 4):723-31. 

68)       CAVICCHI C, DONATI MA, PASQUINI E, POGGI GM, DIONISI-VICI C, PARINI R, ZAMMARCHI E, MORRONE A.: Mutational spectrum in ten Italian patients affected by methylmalonyl-CoA mutase deficiency. J Inherit Metab Dis. 2005;28(6):1175-8.

69)      DONATI MA, MALVAGIA S, PASQUINI E, MORRONE A, MARCA GL, GARAVAGLIA B, TONIOLO D, ZAMMARCHI E.: Barth syndrome presenting with acute metabolic decompensation in the neonatal period. J Inherit Metab Dis. 2006 Oct;29(5):684. Epub 2006 Aug 12. 

70)      PELA I, GASPERINI S, PASQUINI E, DONATI MA.:Hyperkalemia after acute metabolic decompensation in two children with vitamin B12-unresponsive methylmalonic acidemia and normal renal function. Clin Nephrol. 2006 Jul;66(1):63-6. 

71)       LA MARCA G, MALVAGIA S, CASETTA B, PASQUINI E, PELA I, HIRANO M, DONATI MA, ZAMMARCHI E.: Pre- and post-dialysis quantitative dosage of thymidine in urine and plasma of a MNGIE patient by using HPLC-ESI-MS/MS. J Mass Spectrom. 2006 May;41(5):586-92. 

72)      CAVICCHI C, DONATI MA, FUNGHINI S, LA MARCA G, MALVAGIA S, CIANI F, POGGI GM, PASQUINI E, ZAMMARCHI E, MORRONE A.: Genetic and biochemical approach to early prenatal diagnosis in a family with mut methylmalonic aciduria. Clin Genet. 2006 Jan;69(1):72-6. 

73)      MALVAGIA S, LA MARCA G, CASETTA B, GASPERINI S, PASQUINI E, DONATI MA, ZAMMARCHI E.: Falsely elevated C4-carnitine as expression of glutamate formiminotransferase deficiency in tandem mass spectrometry newborn screening. J Mass Spectrom. 2006 Feb;41(2):263-5. 

74)      LA MARCA G, MALVAGIA S, CASETTA B, PASQUINI E, PELA I, HIRANO M, DONATI MA,ZAMMARCHI E.: Pre- and post-dialysis quantitative dosage of thymidine in urine and plasma of a MNGIE patient by using HPLC-ESI-MS/MS.J Mass Spectrom. 2006 May;41(5):586-92.

75)      LA MARCA G, MALVAGIA S, PASQUINI E, INNOCENTI M, DONATI MA, ZAMMARCHI E.: Rapid 2nd-tier test for measurement of 3-OH-propionic and methylmalonic acids on dried blood spots: reducing the false-positive rate for propionylcarnitine during expanded newborn screening by liquid chromatography-tandem mass spectrometry. Clin Chem. 2007 Jul;53(7):1364-9.

76)      CACIOTTI A, DONATI MA, PROCOPIO E, FILOCAMO M, KLEIJER W, WUYTS W, BLAUMEISER B, D'AZZO A, SIMI L, ORLANDO C, MCKENZIE F, FIUMARA A, ZAMMARCHI E, MORRONE A.: GM1 gangliosidosis: molecular analysis of nine patients and development of an RT-PCR assay for GLB1 gene expression profiling. Hum Mutat. 2007 Feb;28(2):204.

77)      PARENTI G, ZUPPALDI A, GABRIELA PITTIS M, ROSARIA TUZZI M, ANNUNZIATA I, MERONI G, PORTO C, DONAUDY F, ROSSI B, ROSSI M, FILOCAMO M, DONATI A, BEMBI B, BALLABIO A, ANDRIA G. Pharmacological Enhancement of Mutated alpha-Glucosidase Activity in Fibroblasts from Patients with Pompe Disease. Mol Ther. 2007 Mar;15(3):508-14

78)      MALVAGIA S, PAPI L, MORRONE A, DONATI MA, CIANI F, PASQUINI E, LA MARCA G, SCHOLTE HR, GENUARDI M, ZAMMARCHI E.: Fatal malonyl CoA decarboxylase deficiency due to maternal uniparental isodisomy of the telomeric end of chromosome 16. Ann Hum Genet. 2007 Nov;71(Pt 6):705-12. 

79)      VERBEEK MM, STEENBERGEN-SPANJERS GC, WILLEMSEN MA, HOL FA, SMEITINK J, SEEGER J, GRATTAN-SMITH P, RYAN MM, HOFFMANN GF, DONATI MA, BLAU N, WEVERS RA. Mutations in the cyclic adenosine monophosphate response element of the tyrosine hydroxylase gene.Ann Neurol. 2007 Oct;62(4):422-6.

80)      PELA I, DONATI MA, PROCOPIO E, FIORINI P.: Lesch-Nyhan syndrome presenting with acute renal failure in a 3-day-old newborn. Pediatr Nephrol. 2008 Jan;23(1):155-8.

81)       PELA I, SERACINI D, DONATI MA, LAVORATTI G, PASQUINI E, MATERASSI M.: Peritoneal dialysis in neonates with inborn errors of metabolism: is it really out of date? Pediatr Nephrol. 2008 Jan;23(1):163-8.

82)      CACIOTTI A, DONATI MA, ADAMI A, GUERRINI R, ZAMMARCHI E, MORRONE A.: Different genotypes in a large Italian family with recurrent hereditary fructose intolerance. Eur J Gastroenterol Hepatol. 2008 Feb;20(2):118-21.

83)      TRAVERSO M, GAZZERRO E, ASSERETO S, SOTGIA F, BIANCHERI R, STRINGARA S, GIBERTI L, PEDEMONTE M, WANG X, SCAPOLAN S, PASQUINI E, DONATI MA, ZARA F, LISANTI MP, BRUNO C, MINETTI C.: Caveolin-3 T78M and T78K missense mutations lead to different phenotypes in vivo and in vitro. Lab Invest. 2008 Feb 4

84)      LA MARCA G, MALVAGIA S, PASQUINI E, INNOCENTI M, FERNANDEZ MR, DONATI MA, ZAMMARCHI E.: The inclusion of succinylacetone as marker for tyrosinemia type I in expanded newborn screening programs. Rapid Commun Mass Spectrom. 2008 Feb 18;22(6):812-818