Cavicchi C - Search Results

1

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: cavicchi c. ScientificWorldJournal. 2013 Oct 31;2013:625824. doi: 10.1155/2013/625824. eCollection 2013. ScientificWorldJournal. 2013. PMID: 24294134 Free PMC article.

2

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. 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

3

Pitfalls in the detection of gross gene rearrangements using MLPA in Fabry disease.

Ferri L, Cavicchi C, Fiumara A, Parini R, Guerrini R, Morrone A. Ferri L, et al. Among authors: cavicchi c. Clin Chim Acta. 2016 Jan 15;452:82-6. doi: 10.1016/j.cca.2015.10.027. Epub 2015 Nov 1. Clin Chim Acta. 2016. PMID: 26528637

4

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: cavicchi c. JIMD Rep. 2011;1:107-9. doi: 10.1007/8904_2011_24. Epub 2011 Jun 22. JIMD Rep. 2011. PMID: 23430836 Free PMC article.

5

Optimizing the molecular diagnosis of GALNS: novel methods to define and characterize Morquio-A syndrome-associated mutations.

Caciotti A, Tonin R, Rigoldi M, Ferri L, Catarzi S, Cavicchi C, Procopio E, Donati MA, Ficcadenti A, Fiumara A, Barone R, Garavelli L, Rocco MD, Filocamo M, Antuzzi D, Scarpa M, Mooney SD, Li B, Skouma A, Bianca S, Concolino D, Casalone R, Monti E, Pantaleo M, Giglio S, Guerrini R, Parini R, Morrone A. Caciotti A, et al. Among authors: cavicchi c. Hum Mutat. 2015 Mar;36(3):357-68. doi: 10.1002/humu.22751. Hum Mutat. 2015. PMID: 25545067

6

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. J Inherit Metab Dis. 2005;28(6):1175-8. doi: 10.1007/s10545-005-0191-x. J Inherit Metab Dis. 2005. PMID: 16435223

7

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. Clin Genet. 2006 Jan;69(1):72-6. doi: 10.1111/j.1399-0004.2005.00547.x. Clin Genet. 2006. PMID: 16451139

8

Late-Onset N-Acetylglutamate Synthase Deficiency: Report of a Paradigmatic Adult Case Presenting with Headaches and Review of the Literature.

Cavicchi C, Chilleri C, Fioravanti A, Ferri L, Ripandelli F, Costa C, Calabresi P, Prontera P, Pochiero F, Pasquini E, Funghini S, la Marca G, Donati MA, Morrone A. Cavicchi C, et al. Int J Mol Sci. 2018 Jan 24;19(2):345. doi: 10.3390/ijms19020345. Int J Mol Sci. 2018. PMID: 29364180 Free PMC article. Review.

9

Integration of PCR-Sequencing Analysis with Multiplex Ligation-Dependent Probe Amplification for Diagnosis of Hereditary Fructose Intolerance.

Ferri L, Caciotti A, Cavicchi C, Rigoldi M, Parini R, Caserta M, Chibbaro G, Gasperini S, Procopio E, Donati MA, Guerrini R, Morrone A. Ferri L, et al. Among authors: cavicchi c. JIMD Rep. 2012;6:31-7. doi: 10.1007/8904_2012_125. Epub 2012 Feb 24. JIMD Rep. 2012. PMID: 23430936 Free PMC article.

10

Insulin-resistant hyperglycaemia complicating neonatal onset of methylmalonic and propionic acidaemias.

Filippi L, Gozzini E, Cavicchi C, Morrone A, Fiorini P, Donzelli G, Malvagia S, la Marca G. Filippi L, et al. Among authors: cavicchi c. J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S179-86. doi: 10.1007/s10545-009-1141-9. Epub 2009 Jul 9. J Inherit Metab Dis. 2009. PMID: 19588269

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