Publication Metabolic treatment of pregnancy and postdelivery period in a patient with cobalamin A disease.
Publication Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome.
Publication Atypical nonketotic hyperglycinemia confirmed by assay of the glycine cleavage system in lymphoblasts.
