Cavicchi C - Search Results

1

Optical coherence tomography morphology and evolution in cblC disease-related maculopathy in a case series of very young patients.

Bacci GM, Donati MA, Pasquini E, Munier F, Cavicchi C, Morrone A, Sodi A, Murro V, Garcia Segarra N, Defilippi C, Bussolin L, Caputo R. Bacci GM, et al. Among authors: cavicchi c. Acta Ophthalmol. 2017 Dec;95(8):e776-e782. doi: 10.1111/aos.13441. Epub 2017 May 8. Acta Ophthalmol. 2017. PMID: 28481040 Free article.

2

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

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

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

5

Cavicchi C, Oussalah A, Falliano S, Ferri L, Gozzini A, Gasperini S, Motta S, Rigoldi M, Parenti G, Tummolo A, Meli C, Menni F, Furlan F, Daniotti M, Malvagia S, la Marca G, Chery C, Morange PE, Tregouet D, Donati MA, Guerrini R, Guéant JL, Morrone A. Cavicchi C, et al. Clin Epigenetics. 2021 Jul 2;13(1):137. doi: 10.1186/s13148-021-01117-2. Clin Epigenetics. 2021. PMID: 34215320 Free PMC article.

6

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.

7

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.

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

9

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.

10

Intra-individual plasticity of the TAZ gene leading to different heritable mutations in siblings with Barth syndrome.

Ferri L, Donati MA, Funghini S, Cavicchi C, Pensato V, Gellera C, Natacci F, Spaccini L, Gasperini S, Vaz FM, Cooper DN, Guerrini R, Morrone A. Ferri L, et al. Among authors: cavicchi c. Eur J Hum Genet. 2015 Dec;23(12):1708-12. doi: 10.1038/ejhg.2015.50. Epub 2015 Mar 18. Eur J Hum Genet. 2015. PMID: 25782672 Free PMC article.

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