Guerrini R - Search Results

1

New clinical and molecular insights on Barth syndrome.

Ferri L, Donati MA, Funghini S, Malvagia S, Catarzi S, Lugli L, Ragni L, Bertini E, Vaz FM, Cooper DN, Guerrini R, Morrone A. Ferri L, et al. Among authors: guerrini r. Orphanet J Rare Dis. 2013 Feb 14;8:27. doi: 10.1186/1750-1172-8-27. Orphanet J Rare Dis. 2013. PMID: 23409742 Free PMC article.

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

Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion.

Cardoso C, Boys A, Parrini E, Mignon-Ravix C, McMahon JM, Khantane S, Bertini E, Pallesi E, Missirian C, Zuffardi O, Novara F, Villard L, Giglio S, Chabrol B, Slater HR, Moncla A, Scheffer IE, Guerrini R. Cardoso C, et al. Among authors: guerrini r. Neurology. 2009 Mar 3;72(9):784-92. doi: 10.1212/01.wnl.0000336339.08878.2d. Epub 2008 Dec 10. Neurology. 2009. PMID: 19073947

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: 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

9

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

10

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.

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