Heterogenous Clinical Landscape in a Consanguineous Malonic Aciduria Family

Malonyl coenzyme A decarboxylase deficiency with a novel mutation

(2021) Cigdem S. Kasapkara et al.   CARDIOLOGY IN THE YOUNG

Brain metabolism and neurological symptoms in combined malonic and methylmalonic aciduria

(2020) Sara Tucci   Orphanet Journal of Rare Diseases

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

Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort

(2019) Alina Levtova et al.   JOURNAL OF INHERITED METABOLIC DISEASE

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

Dilated Cardiomyopathy and Premature Ovarian Failure Unveiling Propionic Aciduria

(2018) Sarah Grotto et al.   CLINICAL CHEMISTRY

Inborn Errors of Metabolism with Myopathy

(2018) Areeg El-Gharbawy et al.   PEDIATRIC CLINICS OF NORTH AMERICA

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

Current status of newborn screening worldwide: 2015

(2015) Bradford L. Therrell et al.   SEMINARS IN PERINATOLOGY

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

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

Structural Asymmetry and Disulfide Bridges among Subunits Modulate the Activity of Human Malonyl-CoA Decarboxylase

(2013) David Aparicio et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

SIRT4 Coordinates the Balance between Lipid Synthesis and Catabolism by Repressing Malonyl CoA Decarboxylase

(2013) Gaëlle Laurent et al.   MOLECULAR CELL

Crystal Structures of Malonyl-Coenzyme A Decarboxylase Provide Insights into Its Catalytic Mechanism and Disease-Causing Mutations

(2013) D. Sean Froese et al.   STRUCTURE

A new case of malonic aciduria with a presymptomatic diagnosis and an early treatment

(2012) Andrea Celato et al.   BRAIN & DEVELOPMENT

Sani-Cloth Wipe Mimics Rare Enzyme Deficiency Malonic Aciduria on Newborn Screen

(2012) B. A. Reindl et al.   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

Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria

(2011) Jennifer L Sloan et al.   NATURE GENETICS

Malonyl CoenzymeA Decarboxylase Regulates Lipid and Glucose Metabolism in Human Skeletal Muscle

(2008) K. Bouzakri et al.   DIABETES

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

(2008) C Sue Richards et al.   GENETICS IN MEDICINE