LIPT1 deficiency presenting as early infantile epileptic encephalopathy, Leigh disease, and secondary pyruvate dehydrogenase complex deficiency

Differential diagnosis of lipoic acid synthesis defects

(2016) Frederic Tort et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Novel compound heterozygous LIAS mutations cause glycine encephalopathy

(2015) Yoshinori Tsurusaki et al.   JOURNAL OF HUMAN GENETICS

Ketogenic diets in patients with inherited metabolic disorders

(2015) S. Scholl-Bürgi et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Mitochondrial iron–sulfur protein biogenesis and human disease

(2014) Oliver Stehling et al.   BIOCHIMIE

Lipoic acid biosynthesis defects

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

Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5

(2013) Peter R. Baker et al.   BRAIN

Mutations in the lipoyltransferase LIPT1 gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexes

(2013) Frederic Tort et al.   HUMAN MOLECULAR GENETICS

Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase

(2013) Yohan Soreze et al.   Orphanet Journal of Rare Diseases

Spectrum of neurological and survival outcomes in pyruvate dehydrogenase complex (PDC) deficiency: Lack of correlation with genotype

(2012) Suzanne D. DeBrosse et al.   MOLECULAR GENETICS AND METABOLISM

The spectrum of pyruvate dehydrogenase complex deficiency: Clinical, biochemical and genetic features in 371 patients

(2012) Kavi P. Patel et al.   MOLECULAR GENETICS AND METABOLISM

Mutations in Iron-Sulfur Cluster Scaffold Genes NFU1 and BOLA3 Cause a Fatal Deficiency of Multiple Respiratory Chain and 2-Oxoacid Dehydrogenase Enzymes

(2011) Jessie M. Cameron et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Lipoic Acid Synthetase Deficiency Causes Neonatal-Onset Epilepsy, Defective Mitochondrial Energy Metabolism, and Glycine Elevation

(2011) Johannes A. Mayr et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Fatal Mitochondrial Disease Is Associated with Defective NFU1 Function in the Maturation of a Subset of Mitochondrial Fe-S Proteins

(2011) Aleix Navarro-Sastre et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mitochondrial fatty acid synthesis and respiration

(2010) J. Kalervo Hiltunen et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

Lipoic Acid Synthesis and Attachment in Yeast Mitochondria

(2009) Melissa S. Schonauer et al.   JOURNAL OF BIOLOGICAL CHEMISTRY