Clinical and biochemical characterization of four patients with mutations in ECHS1

ECHS1 Mutations Cause Combined Respiratory Chain Deficiency Resulting in Leigh Syndrome

(2015) Chika Sakai et al.   HUMAN MUTATION

Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processing

(2015) Kathryn C. Chatfield et al.   MITOCHONDRION

HIBCH deficiency in a patient with phenotypic characteristics of mitochondrial disorders

(2014) Miriam S. Reuter et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism

(2014) Heidi Peters et al.   BRAIN

HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase

(2013) Sacha Ferdinandusse et al.   Orphanet Journal of Rare Diseases

Measurement of tissue acyl-CoAs using flow-injection tandem mass spectrometry: acyl-CoA profiles in short-chain fatty acid oxidation defects

(2012) Andrew A. Palladino et al.   MOLECULAR GENETICS AND METABOLISM

A general introduction to the biochemistry of mitochondrial fatty acid β-oxidation

(2010) Sander Michel Houten et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Enzymology of the branched-chain amino acid oxidation disorders: the valine pathway

(2010) Ronald J. A. Wanders et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Short-chain acyl-coenzyme A dehydrogenase deficiency

(2008) Reena Jethva et al.   MOLECULAR GENETICS AND METABOLISM