title: Vitamin-responsive pyruvate dehydrogenase deficiency in a young girl with external ophthalmoplegia, myopathy and lactic acidosis.
authors.affiliation: Department of Biochemistry, Erasmus University Rotterdam, The Netherlands.
authors.forename: H R
authors.initials: HR
authors.lastname: Scholte
authors.forename: H F
authors.initials: HF
authors.lastname: Busch
authors.forename: I E
authors.initials: IE
authors.lastname: Luyt-Houwen
mesh_terms: D000140:Acidosis, Lactic / Q000188:drug therapy / Q000209:etiology*; D002648:Child; D005260:Female; D006801:Humans; D008928:Mitochondria / Q000201:enzymology / Q000648:ultrastructure; D009132:Muscles / Q000648:ultrastructure; D009135:Muscular Diseases / Q000188:drug therapy / Q000209:etiology*; D009886:Ophthalmoplegia / Q000188:drug therapy / Q000209:etiology*; D015325:Pyruvate Dehydrogenase Complex Deficiency Disease / Q000209:etiology*; D012256:Riboflavin / Q000627:therapeutic use*; D013831:Thiamine / Q000627:therapeutic use*
chemical_list: D012256:Riboflavin; D013831:Thiamine