Zammarchi E - Search Results

1

Biochemical evaluation of a patient with a familial form of leucine-sensitive hypoglycemia and concomitant hyperammonemia.

Zammarchi E, Filippi L, Novembre E, Donati MA. Zammarchi E, et al. Metabolism. 1996 Aug;45(8):957-60. doi: 10.1016/s0026-0495(96)90262-0. Metabolism. 1996. PMID: 8769351

2

Different neurologic outcomes in two patients with neonatal hyperinsulinemic hypoglycemia.

Zammarchi E, Filippi L, Fonda C, Benedetti PA, Pistone D, Donati MA. Zammarchi E, et al. Childs Nerv Syst. 1996 Jul;12(7):413-6. doi: 10.1007/BF00395098. Childs Nerv Syst. 1996. PMID: 8869780

3

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

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

4

Transient neonatal nonketotic hyperglycinemia: a 13-year follow-up.

Zammarchi E, Donati MA, Ciani F. Zammarchi E, et al. Neuropediatrics. 1995 Dec;26(6):328-30. doi: 10.1055/s-2007-979785. Neuropediatrics. 1995. PMID: 8719751

5

Cryptogenic hepatitis masking the diagnosis of ornithine transcarbamylase deficiency.

Zammarchi E, Donati MA, Filippi L, Resti M. Zammarchi E, et al. J Pediatr Gastroenterol Nutr. 1996 May;22(4):380-3. doi: 10.1097/00005176-199605000-00007. J Pediatr Gastroenterol Nutr. 1996. PMID: 8732901

6

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. 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

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. J Pediatr. 1997 Sep;131(3):440-3. doi: 10.1016/s0022-3476(97)80072-8. J Pediatr. 1997. PMID: 9329423

8

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: zammarchi e. Mol Genet Metab. 2001 Jul;73(3):268-75. doi: 10.1006/mgme.2001.3191. Mol Genet Metab. 2001. PMID: 11461194

9

Dental and craniofacial findings in a child affected by glycogen storage disease type III.

Baccetti T, Pierleoni L, Filippi L, Donati MA, Tollaro I, Zammarchi E. Baccetti T, et al. Among authors: zammarchi e. J Clin Pediatr Dent. 1994 Fall;19(1):55-60. J Clin Pediatr Dent. 1994. PMID: 7865425

10

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. Neuropediatrics. 1994 Oct;25(5):274-6. doi: 10.1055/s-2008-1073037. Neuropediatrics. 1994. PMID: 7885541

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