Malvagia S - Search Results

1

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

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

The de novo Q167K mutation in the POU1F1 gene leads to combined pituitary hormone deficiency in an Italian patient.

Malvagia S, Poggi GM, Pasquini E, Donati MA, Pela I, Morrone A, Zammarchi E. Malvagia S, et al. Pediatr Res. 2003 Nov;54(5):635-40. doi: 10.1203/01.PDR.0000084113.41375.1E. Epub 2003 Aug 6. Pediatr Res. 2003. PMID: 12904605

4

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.

5

New mutations in the PPBG gene lead to loss of PPCA protein which affects the level of the beta-galactosidase/neuraminidase complex and the EBP-receptor.

Malvagia S, Morrone A, Caciotti A, Bardelli T, d'Azzo A, Ancora G, Zammarchi E, Donati MA. Malvagia S, et al. Mol Genet Metab. 2004 May;82(1):48-55. doi: 10.1016/j.ymgme.2004.02.007. Mol Genet Metab. 2004. PMID: 15110321

6

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

7

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

8

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.

9

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

10

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

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