Donati MA - Search Results

1

Medium-chain acyl-CoA deficiency: outlines from newborn screening, in silico predictions, and molecular studies.

Catarzi S, Caciotti A, Thusberg J, Tonin R, Malvagia S, la Marca G, Pasquini E, Cavicchi C, Ferri L, Donati MA, Baronio F, Guerrini R, Mooney SD, Morrone A. Catarzi S, et al. Among authors: donati ma. ScientificWorldJournal. 2013 Oct 31;2013:625824. doi: 10.1155/2013/625824. eCollection 2013. ScientificWorldJournal. 2013. PMID: 24294134 Free PMC article.

2

Failure of early dextromethorphan and sodium benzoate therapy in an infant with nonketotic hyperglycinemia.

Zammarchi E, Donati MA, Ciani F, Pasquini E, Pela I, Fiorini P. Zammarchi E, et al. Among authors: donati ma. Neuropediatrics. 1994 Oct;25(5):274-6. doi: 10.1055/s-2008-1073037. Neuropediatrics. 1994. PMID: 7885541

3

Self-mutilation in a patient with mucolipidosis III.

Zammarchi E, Savelli A, Donati MA, Pasquini E. Zammarchi E, et al. Among authors: donati ma. Pediatr Neurol. 1994 Jul;11(1):68-70. doi: 10.1016/0887-8994(94)90096-5. Pediatr Neurol. 1994. PMID: 7986298

4

Fructose-1,6-diphosphatase deficiency misdiagnosed as Reye syndrome.

Zammarchi E, Donati MA, Ciani F, Rubetti P, Pasquini E. Zammarchi E, et al. Among authors: donati ma. Clin Pediatr (Phila). 1995 Oct;34(10):561-4. doi: 10.1177/000992289503401011. Clin Pediatr (Phila). 1995. PMID: 8591687 No abstract available.

5

Early-infantile galactosialidosis: clinical, biochemical, and molecular observations in a new patient.

Zammarchi E, Donati MA, Morrone A, Donzelli GP, Zhou XY, d'Azzo A. Zammarchi E, et al. Among authors: donati ma. Am J Med Genet. 1996 Aug 23;64(3):453-8. doi: 10.1002/(SICI)1096-8628(19960823)64:3<453::AID-AJMG2>3.0.CO;2-Q. Am J Med Genet. 1996. PMID: 8862621

6

Electromyographic alterations in hyperphenylalaninemia due to dihydropteridine reductase deficiency.

Zammarchi E, Donati MA, Pasquini E, Ciani F, Lori S, Fonda C. Zammarchi E, et al. Among authors: donati ma. J Child Neurol. 1997 Feb;12(2):137-9. doi: 10.1177/088307389701200210. J Child Neurol. 1997. PMID: 9075022 No abstract available.

7

Neonatal onset of hyperornithinemia-hyperammonemia-homocitrullinuria syndrome with favorable outcome.

Zammarchi E, Ciani F, Pasquini E, Buonocore G, Shih VE, Donati MA. Zammarchi E, et al. Among authors: donati ma. J Pediatr. 1997 Sep;131(3):440-3. doi: 10.1016/s0022-3476(97)80072-8. J Pediatr. 1997. PMID: 9329423

8

beta-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement.

Morrone A, Bardelli T, Donati MA, Giorgi M, Di Rocco M, Gatti R, Parini R, Ricci R, Taddeucci G, D'Azzo A, Zammarchi E. Morrone A, et al. Among authors: donati ma. Hum Mutat. 2000;15(4):354-66. doi: 10.1002/(SICI)1098-1004(200004)15:4<354::AID-HUMU8>3.0.CO;2-L. Hum Mutat. 2000. PMID: 10737981

9

Lymphocyte mRNA analysis of the ornithine transcarbamylase gene in Italian OTCD male patients and manifesting carriers: identification of novel mutations.

Giorgi M, Morrone A, Donati MA, Ciani F, Bardelli T, Biasucci G, Zammarchi E. Giorgi M, et al. Among authors: donati ma. Hum Mutat. 2000 Apr;15(4):380-1. doi: 10.1002/(SICI)1098-1004(200004)15:4<380::AID-HUMU12>3.0.CO;2-Q. Hum Mutat. 2000. PMID: 10737985

10

Prolonged exclusive breast-feeding from vegan mother causing an acute onset of isolated methylmalonic aciduria due to a mild mutase deficiency.

Ciani F, Poggi GM, Pasquini E, Donati MA, Zammarchi E. Ciani F, et al. Among authors: donati ma. Clin Nutr. 2000 Apr;19(2):137-9. doi: 10.1054/clnu.1999.0099. Clin Nutr. 2000. PMID: 10867733

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