Methylmalonyl Coenzyme A Mutase Deficiency Latest Advances

Find the Latest Research About Methylmalonyl Coenzyme A Mutase Deficiency

Last Updated: 04/28/2026

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Found 7 publications

Delineating the clinical spectrum of isolated methylmalonic acidurias: cblA and mut.

Delineating the clinical spectrum of isolated methylmalonic acidurias: cblA and mut.

Journal: Journal of inherited metabolic disease

Published: January 27, 2020

Systematic literature review and meta-analysis on the epidemiology of methylmalonic acidemia (MMA) with a focus on MMA caused by methylmalonyl-CoA mutase (mut) deficiency.

Systematic literature review and meta-analysis on the epidemiology of methylmalonic acidemia (MMA) with a focus on MMA caused by methylmalonyl-CoA mutase (mut) deficiency.

Journal: Orphanet journal of rare diseases

Published: January 03, 2019

Impaired mitophagy links mitochondrial disease to epithelial stress in methylmalonyl-CoA mutase deficiency.

Impaired mitophagy links mitochondrial disease to epithelial stress in methylmalonyl-CoA mutase deficiency.

Journal: Nature communications

Published: September 28, 2018

Anaesthetic considerations in a patient with methylmalonyl-coenzyme A mutase deficiency.

Anaesthetic considerations in a patient with methylmalonyl-coenzyme A mutase deficiency.

Journal: Indian journal of anaesthesia

Published: January 09, 2018

Molecular, biochemical, and structural analysis of a novel mutation in patients with methylmalonyl-CoA mutase deficiency.

Molecular, biochemical, and structural analysis of a novel mutation in patients with methylmalonyl-CoA mutase deficiency.

Journal: Gene

Published: February 13, 2015

Inborn errors of cobalamin absorption and metabolism.

Inborn errors of cobalamin absorption and metabolism.

Journal: American journal of medical genetics. Part C, Seminars in medical genetics

Published: February 12, 2011

Anesthetic management of a child with methylmalonyl-coenzyme A mutase deficiency.

Anesthetic management of a child with methylmalonyl-coenzyme A mutase deficiency.

Journal: Anesthesia and analgesia

Published: October 01, 1991

Showing 1-7 of 7

Last Updated: 04/28/2026