Donati MA - Search Results

1

Newborn screening in mucopolysaccharidoses.

Donati MA, Pasquini E, Spada M, Polo G, Burlina A. Donati MA, et al. Ital J Pediatr. 2018 Nov 16;44(Suppl 2):126. doi: 10.1186/s13052-018-0552-3. Ital J Pediatr. 2018. PMID: 30442156 Free PMC article. Review.

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

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.

6

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

7

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

8

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

9

3-Hydroxy-3-methylglutaric aciduria in an Italian patient is caused by a new nonsense mutation in the HMGCL gene.

Funghini S, Pasquini E, Cappellini M, Donati MA, Morrone A, Fonda C, Zammarchi E. Funghini S, et al. Among authors: donati ma. Mol Genet Metab. 2001 Jul;73(3):268-75. doi: 10.1006/mgme.2001.3191. Mol Genet Metab. 2001. PMID: 11461194

10

Genetic analysis in nine unrelated Italian patients affected by OTC deficiency: detection of novel mutations in the OTC gene.

Bisanzi S, Morrone A, Donati MA, Pasquini E, Spada M, Strisciuglio P, Parenti G, Parini R, Papadia F, Zammarchi E. Bisanzi S, et al. Among authors: donati ma. Mol Genet Metab. 2002 Jun;76(2):137-44. doi: 10.1016/s1096-7192(02)00028-8. Mol Genet Metab. 2002. PMID: 12083811

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