la Marca G - Search Results

1

Orange-colored diapers as first sign of Lesch-Nyhan disease in an asymptomatic infant.

Gasperini S, Stagi S, Gasperini U, Guerrini R, la Marca G, Donati MA. Gasperini S, et al. Among authors: la marca g. Pediatr Nephrol. 2010 Nov;25(11):2373-4. doi: 10.1007/s00467-010-1557-3. Epub 2010 Jun 2. Pediatr Nephrol. 2010. PMID: 20517618 No abstract available.

2

Hyperhydroxyprolinaemia: a new case diagnosed during neonatal screening with tandem mass spectrometry.

la Marca G, Malvagia S, Pasquini E, Donati MA, Gasperini S, Procopio E, Zammarchi E. la Marca G, et al. Rapid Commun Mass Spectrom. 2005;19(6):863-4. doi: 10.1002/rcm.1861. Rapid Commun Mass Spectrom. 2005. PMID: 15723447 No abstract available.

3

First prenatal molecular diagnosis in a family with holocarboxylase synthetase deficiency.

Malvagia S, Morrone A, Pasquini E, Funghini S, la Marca G, Zammarchi E, Donati MA. Malvagia S, et al. Among authors: la marca g. Prenat Diagn. 2005 Dec;25(12):1117-9. doi: 10.1002/pd.1291. Prenat Diagn. 2005. PMID: 16231399

4

Falsely elevated C4-carnitine as expression of glutamate formiminotransferase deficiency in tandem mass spectrometry newborn screening.

Malvagia S, La Marca G, Casetta B, Gasperini S, Pasquini E, Donati MA, Zammarchi E. Malvagia S, et al. Among authors: la marca g. J Mass Spectrom. 2006 Feb;41(2):263-5. doi: 10.1002/jms.964. J Mass Spectrom. 2006. PMID: 16421867 No abstract available.

5

Barth syndrome presenting with acute metabolic decompensation in the neonatal period.

Donati MA, Malvagia S, Pasquini E, Morrone A, La Marca G, Garavaglia B, Toniolo D, Zammarchi E. Donati MA, et al. Among authors: la marca g. J Inherit Metab Dis. 2006 Oct;29(5):684. doi: 10.1007/s10545-006-0388-7. Epub 2006 Aug 12. J Inherit Metab Dis. 2006. PMID: 16906470

6

Implementing tandem mass spectrometry as a routine tool for characterizing the complete purine and pyrimidine metabolic profile in urine samples.

la Marca G, Casetta B, Malvagia S, Pasquini E, Innocenti M, Donati MA, Zammarchi E. la Marca G, et al. J Mass Spectrom. 2006 Nov;41(11):1442-52. doi: 10.1002/jms.1115. J Mass Spectrom. 2006. PMID: 17061293

7

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. Clin Chem. 2007 Jul;53(7):1364-9. doi: 10.1373/clinchem.2007.087775. Epub 2007 May 17. Clin Chem. 2007. PMID: 17510301

8

Hypocitrullinemia in expanded newborn screening by LC-MS/MS is not a reliable marker for ornithine transcarbamylase deficiency.

Cavicchi C, Malvagia S, la Marca G, Gasperini S, Donati MA, Zammarchi E, Guerrini R, Morrone A, Pasquini E. Cavicchi C, et al. Among authors: la marca g. J Pharm Biomed Anal. 2009 Jul 12;49(5):1292-5. doi: 10.1016/j.jpba.2009.03.001. Epub 2009 Mar 20. J Pharm Biomed Anal. 2009. PMID: 19359120

9

N-carbamylglutamate in emergency management of hyperammonemia in neonatal acute onset propionic and methylmalonic aciduria.

Filippi L, Gozzini E, Fiorini P, Malvagia S, la Marca G, Donati MA. Filippi L, et al. Among authors: la marca g. Neonatology. 2010;97(3):286-90. doi: 10.1159/000255168. Epub 2009 Nov 4. Neonatology. 2010. PMID: 19887858

10

Safety and tolerability of antiepileptic drug treatment in children with epilepsy.

Guerrini R, Zaccara G, la Marca G, Rosati A. Guerrini R, et al. Among authors: la marca g. Drug Saf. 2012 Jul 1;35(7):519-33. doi: 10.2165/11630700-000000000-00000. Drug Saf. 2012. PMID: 22702637 Review.

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