Malvagia S - Search Results

1

Children who develop type 1 diabetes early in life show low levels of carnitine and amino acids at birth: does this finding shed light on the etiopathogenesis of the disease?

la Marca G, Malvagia S, Toni S, Piccini B, Di Ciommo V, Bottazzo GF. la Marca G, et al. Among authors: malvagia s. Nutr Diabetes. 2013 Oct 28;3(10):e94. doi: 10.1038/nutd.2013.33. Nutr Diabetes. 2013. PMID: 24166423 Free PMC article.

2

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. Prenat Diagn. 2005 Dec;25(12):1117-9. doi: 10.1002/pd.1291. Prenat Diagn. 2005. PMID: 16231399

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

4

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. Among authors: malvagia s. J Mass Spectrom. 2006 May;41(5):586-92. doi: 10.1002/jms.1013. J Mass Spectrom. 2006. PMID: 16498612

5

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: malvagia s. Rapid Commun Mass Spectrom. 2006;20(13):2013-22. doi: 10.1002/rcm.2556. Rapid Commun Mass Spectrom. 2006. PMID: 16755600

6

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: malvagia s. 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

7

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. Among authors: malvagia s. J Mass Spectrom. 2006 Nov;41(11):1442-52. doi: 10.1002/jms.1115. J Mass Spectrom. 2006. PMID: 17061293

8

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

9

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. 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

10

The inclusion of succinylacetone as marker for tyrosinemia type I in expanded newborn screening programs.

la Marca G, Malvagia S, Pasquini E, Innocenti M, Fernandez MR, Donati MA, Zammarchi E. la Marca G, et al. Among authors: malvagia s. Rapid Commun Mass Spectrom. 2008;22(6):812-8. doi: 10.1002/rcm.3428. Rapid Commun Mass Spectrom. 2008. PMID: 18278819

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