Multiomic analysis in fibroblasts of patients with inborn errors of cobalmin metabolism reveals concordance with clinical and metabolic variabilityResearch in context

Multiomic analysis in fibroblasts of patients with inborn errors of cobalmin metabolism reveals concordance with clinical and metabolic variabilityResearch in context

Summary: Background: The high variability in clinical and metabolic presentations of inborn errors of cobalamin (cbl) metabolism (IECM), such as the cblC/epicblC types with combined deficits in methylmalonyl-coA mutase (MUT) and methionine synthase (MS), are not well understood. They could be expla...

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Main Authors: Arnaud Wiedemann, Abderrahim Oussalah, Rosa-Maria Guéant Rodriguez, Elise Jeannesson, Marc Mertens, Irina Rotaru, Jean-Marc Alberto, Okan Baspinar, Charif Rashka, Ziad Hassan, Youssef Siblini, Karim Matmat, Manon Jeandel, Celine Chery, Aurélie Robert, Guillaume Chevreux, Laurent Lignières, Jean-Michel Camadro, François Feillet, David Coelho, Jean-Louis Guéant
Format: Article
Language:English
Published: Elsevier 2024-01-01
Series:EBioMedicine
Subjects:
Inborn errors of metabolism
Methylmalonyl-CoA mutase
Methionine synthase
MMACHC
Vitamin B12 deficiency
One-carbon metabolism
Online Access:http://www.sciencedirect.com/science/article/pii/S2352396423004772

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http://www.sciencedirect.com/science/article/pii/S2352396423004772

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