Ciani F - Search Results

1

Genetic and biochemical approach to early prenatal diagnosis in a family with mut methylmalonic aciduria.

Cavicchi C, Donati MA, Funghini S, la Marca G, Malvagia S, Ciani F, Poggi GM, Pasquini E, Zammarchi E, Morrone A. Cavicchi C, et al. Among authors: ciani f. Clin Genet. 2006 Jan;69(1):72-6. doi: 10.1111/j.1399-0004.2005.00547.x. Clin Genet. 2006. PMID: 16451139

2

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

3

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

4

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

5

Fatal malonyl CoA decarboxylase deficiency due to maternal uniparental isodisomy of the telomeric end of chromosome 16.

Malvagia S, Papi L, Morrone A, Donati MA, Ciani F, Pasquini E, la Marca G, Scholte HR, Genuardi M, Zammarchi E. Malvagia S, et al. Among authors: ciani f. Ann Hum Genet. 2007 Nov;71(Pt 6):705-12. doi: 10.1111/j.1469-1809.2007.00373.x. Epub 2007 May 29. Ann Hum Genet. 2007. PMID: 17535268

6

Newborn Screening for Tyrosinemia Type I: Further Evidence that Succinylacetone Determination on Blood Spot Is Essential.

la Marca G, Malvagia S, Pasquini E, Cavicchi C, Morrone A, Ciani F, Funghini S, Villanelli F, Zammarchi E, Guerrini R. la Marca G, et al. Among authors: ciani f. JIMD Rep. 2011;1:107-9. doi: 10.1007/8904_2011_24. Epub 2011 Jun 22. JIMD Rep. 2011. PMID: 23430836 Free PMC article.

7

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

8

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.

9

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

10

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

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

128 results

Search Page

Filters