Zammarchi E - Search Results

1

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: zammarchi e. Clin Nutr. 2000 Apr;19(2):137-9. doi: 10.1054/clnu.1999.0099. Clin Nutr. 2000. PMID: 10867733

2

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

3

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: zammarchi e. Clin Genet. 2006 Jan;69(1):72-6. doi: 10.1111/j.1399-0004.2005.00547.x. Clin Genet. 2006. PMID: 16451139

4

Rapid 2nd-tier test for measurement of 3-OH-propionic and methylmalonic acids on dried blood spots: reducing the false-positive rate for propionylcarnitine during expanded newborn screening by liquid chromatography-tandem mass spectrometry.

la Marca G, Malvagia S, Pasquini E, Innocenti M, Donati MA, Zammarchi E. la Marca G, et al. Among authors: zammarchi e. Clin Chem. 2007 Jul;53(7):1364-9. doi: 10.1373/clinchem.2007.087775. Epub 2007 May 17. Clin Chem. 2007. PMID: 17510301

5

Acute onset of X-linked adrenoleukodystrophy mimicking encephalitis.

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

6

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.

7

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

8

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

9

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

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

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