Publication Mitochondrial myopathy with tRNA(Leu(UUR)) mutation and complex I deficiency responsive to riboflavin.
Publication Neonatal onset of medium-chain acyl-coenzyme A dehydrogenase deficiency with confusing biochemical features.
Publication Atypical nonketotic hyperglycinemia confirmed by assay of the glycine cleavage system in lymphoblasts.
Publication "Reducing body"-like inclusions in skeletal muscle in childhood-onset acid maltase deficiency.
Publication Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome.
Publication Maternal riboflavin deficiency, resulting in transient neonatal-onset glutaric aciduria Type 2, is caused by a microdeletion in the riboflavin transporter gene GPR172B.
Publication Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin.
