Ciani F - Search Results

1

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

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

3

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: ciani f. 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. Among authors: ciani f. Neuropediatrics. 1995 Dec;26(6):328-30. doi: 10.1055/s-2007-979785. Neuropediatrics. 1995. PMID: 8719751

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: ciani f. J Child Neurol. 1997 Feb;12(2):137-9. doi: 10.1177/088307389701200210. J Child Neurol. 1997. PMID: 9075022 No abstract available.

6

[Hyperglycinemia in clinical-laboratory practice].

Ciani F, Pasquini E, Ciardetti A, Donati MA, Zammarchi E. Ciani F, et al. Pediatr Med Chir. 1997 Mar-Apr;19(2):109-12. Pediatr Med Chir. 1997. PMID: 9312744 Italian.

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. 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. Crit Care Med. 2000 Jun;28(6):2119-21. doi: 10.1097/00003246-200006000-00078. Crit Care Med. 2000. PMID: 10890676

9

Clinical findings and biochemical and molecular analysis of four patients with holocarboxylase synthetase deficiency.

Morrone A, Malvagia S, Donati MA, Funghini S, Ciani F, Pela I, Boneh A, Peters H, Pasquini E, Zammarchi E. Morrone A, et al. Among authors: ciani f. Am J Med Genet. 2002 Jul 22;111(1):10-8. doi: 10.1002/ajmg.10532. Am J Med Genet. 2002. PMID: 12124727

10

Two new mutations in children affected by partial biotinidase deficiency ascertained by newborn screening.

Funghini S, Donati MA, Pasquini E, Gasperini S, Ciani F, Morrone A, Zammarchi E. Funghini S, et al. Among authors: ciani f. J Inherit Metab Dis. 2002 Aug;25(4):328-30. doi: 10.1023/a:1016522912849. J Inherit Metab Dis. 2002. PMID: 12227467

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