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

Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes

(2016) Emma S. Reid et al.   BRAIN

Added value of next generation gene panel analysis for patients with elevated methylmalonic acid and no clinical diagnosis following functional studies of vitamin B12 metabolism

(2016) Mihaela Pupavac et al.   MOLECULAR GENETICS AND METABOLISM

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Racial/ethnic differences in the birth prevalence of congenital anomalies in the United States

(2015) Alexander Egbe et al.   JOURNAL OF PERINATAL MEDICINE

Prevalence of Attention-Deficit/Hyperactivity Disorder: A Systematic Review and Meta-analysis

(2015) R. Thomas et al.   PEDIATRICS

Lipoic acid biosynthesis defects

(2014) Johannes A. Mayr et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Fish oil attenuates methylmalonate-induced seizures

(2013) Cristina Ruedell Reschke Banderó et al.   EPILEPSY RESEARCH

Acute renal failure potentiates brain energy dysfunction elicited by methylmalonic acid

(2013) Patrícia F. Schuck et al.   INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE

C7orf10 encodes succinate-hydroxymethylglutarate CoA-transferase, the enzyme that converts glutarate to glutaryl-CoA

(2013) Simon Marlaire et al.   JOURNAL OF INHERITED METABOLIC DISEASE

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

(2012) Andrea Celato et al.   BRAIN & DEVELOPMENT

The prevalence and natural course of food protein–induced enterocolitis syndrome to cow’s milk: A large-scale, prospective population-based study

(2011) Yitzhak Katz et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Mammalian ACSF3 Protein Is a Malonyl-CoA Synthetase That Supplies the Chain Extender Units for Mitochondrial Fatty Acid Synthesis

(2011) Andrzej Witkowski et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype

(2011) A. Alfares et al.   JOURNAL OF MEDICAL GENETICS

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

(2011) Jennifer L Sloan et al.   NATURE GENETICS

Mitochondrial fatty acid synthesis – An adopted set of enzymes making a pathway of major importance for the cellular metabolism

(2009) J. Kalervo Hiltunen et al.   PROGRESS IN LIPID RESEARCH

Genetic Mapping of Glutaric Aciduria, Type 3, to Chromosome 7 and Identification of Mutations in C7orf10

(2008) Eric A. Sherman et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Hereditary and acquired diseases of acyl-coenzyme A metabolism

(2008) Grant A Mitchell et al.   MOLECULAR GENETICS AND METABOLISM