Malonyl coenzyme A decarboxylase deficiency with a novel mutation

A Korean child diagnosed with malonic aciduria harboring a novel start codon mutation following presentation with dilated cardiomyopathy

(2020) Seung Hoon Lee et al.   Molecular Genetics & Genomic Medicine

Dilated cardiomyopathy in a national paediatric population

(2019) Muhammad Bassem Jammal Addin et al.   EUROPEAN JOURNAL OF PEDIATRICS

Clinical, biochemical and molecular characteristics of malonyl-CoA decarboxylase deficiency and long-term follow-up of nine patients

(2019) Cristel Chapel-Crespo et al.   MOLECULAR GENETICS AND METABOLISM

A new case of malonyl-CoA decarboxylase deficiency with mild clinical features

(2016) Huan Liu et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Malonyl-CoA decarboxylase deficiency: Long-term follow-up of a patient new clinical features and novel mutations

(2015) Padmini P. Polinati et al.   BRAIN & DEVELOPMENT

Malonic aciduria: long-term follow-up of new patients detected by newborn screening

(2014) Fabian Baertling et al.   EUROPEAN JOURNAL OF PEDIATRICS

Malonyl Coenzyme A Decarboxylase Deficiency: Early Dietary Restriction and Time Course of Cardiomyopathy

(2012) C. E. Prada et al.   PEDIATRICS

Novel compound heterozygous mutation of MLYCD in a Chinese patient with malonic aciduria

(2011) Jinjie Xue et al.   MOLECULAR GENETICS AND METABOLISM