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PRDX1 gene-related epi-cblC disease is a common type of inborn error of cobalamin metabolism with mono- or bi-allelic MMACHC epimutations.
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.
Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B12.
Oussalah A, Siblini Y, Hergalant S, Chéry C, Rouyer P, Cavicchi C, Guerrini R, Morange PE, Trégouët D, Pupavac M, Watkins D, Pastinen T, Chung WK, Ficicioglu C, Feillet F, Froese DS, Baumgartner MR, Benoist JF, Majewski J, Morrone A, Rosenblatt DS, Guéant JL. Oussalah A, et al. Among authors: cavicchi c. Clin Epigenetics. 2022 Apr 19;14(1):52. doi: 10.1186/s13148-022-01271-1. Clin Epigenetics. 2022. PMID: 35440018 Free PMC article.
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.
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
26 results