la Marca G - Search Results

1

Tandem mass spectrometry, but not T-cell receptor excision circle analysis, identifies newborns with late-onset adenosine deaminase deficiency.

la Marca G, Canessa C, Giocaliere E, Romano F, Duse M, Malvagia S, Lippi F, Funghini S, Bianchi L, Della Bona ML, Valleriani C, Ombrone D, Moriondo M, Villanelli F, Speckmann C, Adams S, Gaspar BH, Hershfield M, Santisteban I, Fairbanks L, Ragusa G, Resti M, de Martino M, Guerrini R, Azzari C. la Marca G, et al. J Allergy Clin Immunol. 2013 Jun;131(6):1604-10. doi: 10.1016/j.jaci.2012.08.054. Epub 2012 Dec 30. J Allergy Clin Immunol. 2013. PMID: 23280131

2

Rapid diagnosis of medium chain Acyl Co-A dehydrogenase (MCAD) deficiency in a newborn by liquid chromatography/tandem mass spectrometry.

la Marca G, Malvagia S, Donati MA, Morrone A, Pasquini E, Zammarchi E. la Marca G, et al. Rapid Commun Mass Spectrom. 2003;17(23):2688-92. doi: 10.1002/rcm.1248. Rapid Commun Mass Spectrom. 2003. PMID: 14648909 No abstract available.

3

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.

4

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

5

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.

6

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

7

Pre- and post-dialysis quantitative dosage of thymidine in urine and plasma of a MNGIE patient by using HPLC-ESI-MS/MS.

la Marca G, Malvagia S, Casetta B, Pasquini E, Pela I, Hirano M, Donati MA, Zammarchi E. la Marca G, et al. J Mass Spectrom. 2006 May;41(5):586-92. doi: 10.1002/jms.1013. J Mass Spectrom. 2006. PMID: 16498612

8

Electrospray ionisation tandem mass spectrometric investigation of phenylpropanoids and secoiridoids from solid olive residue.

Innocenti M, la Marca G, Malvagia S, Giaccherini C, Vincieri FF, Mulinacci N. Innocenti M, et al. Among authors: la marca g. Rapid Commun Mass Spectrom. 2006;20(13):2013-22. doi: 10.1002/rcm.2556. Rapid Commun Mass Spectrom. 2006. PMID: 16755600

9

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

10

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

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