Donati MA - Search Results

1

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.

Malvagia S, Morrone A, Caciotti A, Bardelli T, d'Azzo A, Ancora G, Zammarchi E, Donati MA. Malvagia S, et al. Among authors: donati ma. Mol Genet Metab. 2004 May;82(1):48-55. doi: 10.1016/j.ymgme.2004.02.007. Mol Genet Metab. 2004. PMID: 15110321

2

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: donati ma. J Clin Pediatr Dent. 1994 Fall;19(1):55-60. J Clin Pediatr Dent. 1994. PMID: 7865425

3

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

4

Acute onset of X-linked adrenoleukodystrophy mimicking encephalitis.

Zammarchi E, Donati MA, Tucci F, Fonda C, Fanelli F, Pazzaglia R. Zammarchi E, et al. Among authors: donati ma. Brain Dev. 1994 May-Jun;16(3):238-40. doi: 10.1016/0387-7604(94)90077-9. Brain Dev. 1994. PMID: 7943611

5

Familial infantile myasthenia: a neuromuscular cause of respiratory failure.

Zammarchi E, Donati MA, Masi S, Sarti A, Castelli S. Zammarchi E, et al. Among authors: donati ma. Childs Nerv Syst. 1994 Jul;10(5):347-9. doi: 10.1007/BF00335178. Childs Nerv Syst. 1994. PMID: 7954508

6

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

7

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.

8

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

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

9

Cryptogenic hepatitis masking the diagnosis of ornithine transcarbamylase deficiency.

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

10

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. Among authors: donati ma. Metabolism. 1996 Aug;45(8):957-60. doi: 10.1016/s0026-0495(96)90262-0. Metabolism. 1996. PMID: 8769351

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