Pasquini E - Search Results

1

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: pasquini e. Rapid Commun Mass Spectrom. 2008;22(6):812-8. doi: 10.1002/rcm.3428. Rapid Commun Mass Spectrom. 2008. PMID: 18278819

2

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: pasquini e. J Mass Spectrom. 2006 Nov;41(11):1442-52. doi: 10.1002/jms.1115. J Mass Spectrom. 2006. PMID: 17061293

3

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

4

The successful inclusion of succinylacetone as a marker of tyrosinemia type I in Tuscany newborn screening program.

la Marca G, Malvagia S, Funghini S, Pasquini E, Moneti G, Guerrini R, Zammarchi E. la Marca G, et al. Among authors: pasquini e. Rapid Commun Mass Spectrom. 2009 Dec;23(23):3891-3. doi: 10.1002/rcm.4289. Rapid Commun Mass Spectrom. 2009. PMID: 19902423 No abstract available.

5

Newborn Screening for Tyrosinemia Type I: Further Evidence that Succinylacetone Determination on Blood Spot Is Essential.

la Marca G, Malvagia S, Pasquini E, Cavicchi C, Morrone A, Ciani F, Funghini S, Villanelli F, Zammarchi E, Guerrini R. la Marca G, et al. Among authors: pasquini e. JIMD Rep. 2011;1:107-9. doi: 10.1007/8904_2011_24. Epub 2011 Jun 22. JIMD Rep. 2011. PMID: 23430836 Free PMC article.

6

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: pasquini e. J Mass Spectrom. 2006 May;41(5):586-92. doi: 10.1002/jms.1013. J Mass Spectrom. 2006. PMID: 16498612

7

Progress in expanded newborn screening for metabolic conditions by LC-MS/MS in Tuscany: update on methods to reduce false tests.

la Marca G, Malvagia S, Casetta B, Pasquini E, Donati MA, Zammarchi E. la Marca G, et al. Among authors: pasquini e. J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S395-404. doi: 10.1007/s10545-008-0965-z. Epub 2008 Oct 27. J Inherit Metab Dis. 2008. PMID: 18956250

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: pasquini e. 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

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: pasquini e. Rapid Commun Mass Spectrom. 2003;17(23):2688-92. doi: 10.1002/rcm.1248. Rapid Commun Mass Spectrom. 2003. PMID: 14648909 No abstract available.

10

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. Among authors: pasquini e. Rapid Commun Mass Spectrom. 2005;19(6):863-4. doi: 10.1002/rcm.1861. Rapid Commun Mass Spectrom. 2005. PMID: 15723447 No abstract available.

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