Clinical, biochemical and metabolic characterisation of a mild form of human short-chain enoyl-CoA hydratase deficiency: significance of increased N-acetyl-S-(2-carboxypropyl)cysteine excretion

ECHS1 Mutations Cause Combined Respiratory Chain Deficiency Resulting in Leigh Syndrome

(2015) Chika Sakai et al.   HUMAN MUTATION

Identification of HIBCH Gene Mutations Causing Autosomal Recessive Leigh Syndrome: A Gene Involved in Valine Metabolism

(2015) Claudia Soler-Alfonso et al.   PEDIATRIC NEUROLOGY

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

Cerebrospinal fluid lactate and pyruvate concentrations and their ratio

(2012) Wan-Ming Zhang et al.   CLINICAL BIOCHEMISTRY

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

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

The enzymology of mitochondrial fatty acid beta-oxidation and its application to follow-up analysis of positive neonatal screening results

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