Guerrini R - Search Results

1

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: guerrini r. 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

2

Different genotypes in a large Italian family with recurrent hereditary fructose intolerance.

Caciotti A, Donati MA, Adami A, Guerrini R, Zammarchi E, Morrone A. Caciotti A, et al. Among authors: guerrini r. Eur J Gastroenterol Hepatol. 2008 Feb;20(2):118-21. doi: 10.1097/MEG.0b013e3282f172e6. Eur J Gastroenterol Hepatol. 2008. PMID: 18188031

3

Unbalanced GLA mRNAs ratio quantified by real-time PCR in Fabry patients' fibroblasts results in Fabry disease.

Filoni C, Caciotti A, Carraresi L, Donati MA, Mignani R, Parini R, Filocamo M, Soliani F, Simi L, Guerrini R, Zammarchi E, Morrone A. Filoni C, et al. Among authors: guerrini r. Eur J Hum Genet. 2008 Nov;16(11):1311-7. doi: 10.1038/ejhg.2008.109. Epub 2008 Jun 18. Eur J Hum Genet. 2008. PMID: 18560446

4

The potential action of galactose as a "chemical chaperone": increase of beta galactosidase activity in fibroblasts from an adult GM1-gangliosidosis patient.

Caciotti A, Donati MA, d'Azzo A, Salvioli R, Guerrini R, Zammarchi E, Morrone A. Caciotti A, et al. Among authors: guerrini r. Eur J Paediatr Neurol. 2009 Mar;13(2):160-4. doi: 10.1016/j.ejpn.2008.03.004. Epub 2008 Jun 20. Eur J Paediatr Neurol. 2009. PMID: 18571950

5

GALNS gene expression profiling in Morquio A patients' fibroblasts.

Carraresi L, Parini R, Filoni C, Caciotti A, Sersale G, Tomatsu S, Orlando C, Zammarchi E, Guerrini R, Donati MA, Morrone A. Carraresi L, et al. Among authors: guerrini r. Clin Chim Acta. 2008 Nov;397(1-2):72-6. doi: 10.1016/j.cca.2008.07.021. Epub 2008 Jul 25. Clin Chim Acta. 2008. PMID: 18710657

6

Rapid assay of topiramate in dried blood spots by a new liquid chromatography-tandem mass spectrometric method.

la Marca G, Malvagia S, Filippi L, Fiorini P, Innocenti M, Luceri F, Pieraccini G, Moneti G, Francese S, Dani FR, Guerrini R. la Marca G, et al. Among authors: guerrini r. J Pharm Biomed Anal. 2008 Dec 15;48(5):1392-6. doi: 10.1016/j.jpba.2008.09.025. Epub 2008 Sep 26. J Pharm Biomed Anal. 2008. PMID: 18980824

7

New strategy for the screening of lysosomal storage disorders: the use of the online trapping-and-cleanup liquid chromatography/mass spectrometry.

la Marca G, Casetta B, Malvagia S, Guerrini R, Zammarchi E. la Marca G, et al. Among authors: guerrini r. Anal Chem. 2009 Aug 1;81(15):6113-21. doi: 10.1021/ac900504s. Anal Chem. 2009. PMID: 19555116

8

Type II sialidosis: review of the clinical spectrum and identification of a new splicing defect with chitotriosidase assessment in two patients.

Caciotti A, Di Rocco M, Filocamo M, Grossi S, Traverso F, d'Azzo A, Cavicchi C, Messeri A, Guerrini R, Zammarchi E, Donati MA, Morrone A. Caciotti A, et al. Among authors: guerrini r. J Neurol. 2009 Nov;256(11):1911-5. doi: 10.1007/s00415-009-5213-4. Epub 2009 Jul 1. J Neurol. 2009. PMID: 19568825 Review.

9

A new rapid micromethod for the assay of phenobarbital from dried blood spots by LC-tandem mass spectrometry.

la Marca G, Malvagia S, Filippi L, Luceri F, Moneti G, Guerrini R. la Marca G, et al. Among authors: guerrini r. Epilepsia. 2009 Dec;50(12):2658-62. doi: 10.1111/j.1528-1167.2009.02204.x. Epub 2009 Jul 20. Epilepsia. 2009. PMID: 19682026 Free article.

10

Topiramate concentrations in neonates treated with prolonged whole body hypothermia for hypoxic ischemic encephalopathy.

Filippi L, la Marca G, Fiorini P, Poggi C, Cavallaro G, Malvagia S, Pellegrini-Giampietro DE, Guerrini R. Filippi L, et al. Among authors: guerrini r. Epilepsia. 2009 Nov;50(11):2355-61. doi: 10.1111/j.1528-1167.2009.02302.x. Epub 2009 Sep 10. Epilepsia. 2009. PMID: 19744111 Free article.

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