Donati MA - Search Results

1

Optical coherence tomography morphology and evolution in cblC disease-related maculopathy in a case series of very young patients.

Bacci GM, Donati MA, Pasquini E, Munier F, Cavicchi C, Morrone A, Sodi A, Murro V, Garcia Segarra N, Defilippi C, Bussolin L, Caputo R. Bacci GM, et al. Among authors: donati ma. Acta Ophthalmol. 2017 Dec;95(8):e776-e782. doi: 10.1111/aos.13441. Epub 2017 May 8. Acta Ophthalmol. 2017. PMID: 28481040 Free 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

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

9

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

10

Lethal late onset cblB methylmalonic aciduria.

Ciani F, Donati MA, Tulli G, Poggi GM, Pasquini E, Rosenblatt DS, Zammarchi E. Ciani F, et al. Among authors: donati ma. Crit Care Med. 2000 Jun;28(6):2119-21. doi: 10.1097/00003246-200006000-00078. Crit Care Med. 2000. PMID: 10890676

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