Pasquini E - Search Results

1

Sudden unexpected fatal encephalopathy in adults with OTC gene mutations-Clues for early diagnosis and timely treatment.

Cavicchi C, Donati M, Parini R, Rigoldi M, Bernardi M, Orfei F, Gentiloni Silveri N, Colasante A, Funghini S, Catarzi S, Pasquini E, la Marca G, Mooney S, Guerrini R, Morrone A. Cavicchi C, et al. Among authors: pasquini e. Orphanet J Rare Dis. 2014 Jul 16;9:105. doi: 10.1186/s13023-014-0105-9. Orphanet J Rare Dis. 2014. PMID: 25026867 Free PMC article.

2

Genetic analysis in nine unrelated Italian patients affected by OTC deficiency: detection of novel mutations in the OTC gene.

Bisanzi S, Morrone A, Donati MA, Pasquini E, Spada M, Strisciuglio P, Parenti G, Parini R, Papadia F, Zammarchi E. Bisanzi S, et al. Among authors: pasquini e. Mol Genet Metab. 2002 Jun;76(2):137-44. doi: 10.1016/s1096-7192(02)00028-8. Mol Genet Metab. 2002. PMID: 12083811

3

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

4

Biotinidase deficiency due to a de novo mutation or gonadal mosaicism in a first child.

Tonin R, Caciotti A, Funghini S, la Marca G, Pasquini E, Cayton E, Mooney SD, Guerrini R, Morrone A. Tonin R, et al. Among authors: pasquini e. Clin Chim Acta. 2015 May 20;445:70-2. doi: 10.1016/j.cca.2015.03.010. Epub 2015 Mar 18. Clin Chim Acta. 2015. PMID: 25795614

5

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. Among authors: pasquini e. Prenat Diagn. 2005 Dec;25(12):1117-9. doi: 10.1002/pd.1291. Prenat Diagn. 2005. PMID: 16231399

6

Medium-chain acyl-CoA deficiency: outlines from newborn screening, in silico predictions, and molecular studies.

Catarzi S, Caciotti A, Thusberg J, Tonin R, Malvagia S, la Marca G, Pasquini E, Cavicchi C, Ferri L, Donati MA, Baronio F, Guerrini R, Mooney SD, Morrone A. Catarzi S, et al. Among authors: pasquini e. ScientificWorldJournal. 2013 Oct 31;2013:625824. doi: 10.1155/2013/625824. eCollection 2013. ScientificWorldJournal. 2013. PMID: 24294134 Free PMC article.

7

Structural organization of the human carbamyl phosphate synthetase I gene (CPS1) and identification of two novel genetic lesions.

Funghini S, Donati MA, Pasquini E, Zammarchi E, Morrone A. Funghini S, et al. Among authors: pasquini e. Hum Mutat. 2003 Oct;22(4):340-1. doi: 10.1002/humu.9184. Hum Mutat. 2003. PMID: 12955727

8

Mutational spectrum in ten Italian patients affected by methylmalonyl-CoA mutase deficiency.

Cavicchi C, Donati MA, Pasquini E, Poggi GM, Dionisi-Vici C, Parini R, Zammarchi E, Morrone A. Cavicchi C, et al. Among authors: pasquini e. J Inherit Metab Dis. 2005;28(6):1175-8. doi: 10.1007/s10545-005-0191-x. J Inherit Metab Dis. 2005. PMID: 16435223

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: pasquini e. 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

Successful prenatal molecular diagnosis of carbamyl-phosphate synthetase I deficiency in two at-risk pregnancies.

Funghini S, Morrone A, Pasquini E, Zammarchi E, Donati MA. Funghini S, et al. Among authors: pasquini e. J Inherit Metab Dis. 2005;28(5):801-2. doi: 10.1007/s10545-005-0053-6. J Inherit Metab Dis. 2005. PMID: 16151916

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