Malvagia S - Search Results

1

The successful inclusion of ADA SCID in Tuscany expanded newborn screening program.

Malvagia S, Funghini S, Della Bona M, Ombrone D, Mura M, Damiano R, Ricci S, Cortimiglia M, Azzari C, la Marca G. Malvagia S, et al. Clin Chem Lab Med. 2021 May 6;59(10):e401-e404. doi: 10.1515/cclm-2021-0307. Print 2021 Sep 27. Clin Chem Lab Med. 2021. PMID: 33951760 No abstract available.

2

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: malvagia s. Am J Med Genet. 2002 Jul 22;111(1):10-8. doi: 10.1002/ajmg.10532. Am J Med Genet. 2002. PMID: 12124727

3

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. Among authors: malvagia s. Rapid Commun Mass Spectrom. 2003;17(23):2688-92. doi: 10.1002/rcm.1248. Rapid Commun Mass Spectrom. 2003. PMID: 14648909 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. 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. 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: malvagia s. 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. Among authors: malvagia s. 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: malvagia s. 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: 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

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

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