title: Pearson syndrome: altered tricarboxylic acid and urea-cycle metabolites, adrenal insufficiency and corneal opacities.
authors.affiliation: Institut de Bioquímica Clínica, Diputació de Barcelona, Spain.
authors.forename: A
authors.initials: A
authors.lastname: Ribes
authors.forename: E
authors.initials: E
authors.lastname: Riudor
authors.forename: R
authors.initials: R
authors.lastname: Valcárel
authors.forename: A
authors.initials: A
authors.lastname: Salvá
authors.forename: F
authors.initials: F
authors.lastname: Castelló
authors.forename: S
authors.initials: S
authors.lastname: Murillo
authors.forename: C
authors.initials: C
authors.lastname: Dominguez
authors.forename: A
authors.initials: A
authors.lastname: Rötig
authors.forename: C
authors.initials: C
authors.lastname: Jakobs
mesh_terms: D000143:Acids / Q000097:blood / Q000652:urine; D000309:Adrenal Insufficiency / Q000235:genetics / Q000378:metabolism*; D000596:Amino Acids / Q000097:blood / Q000652:urine; D015139:Blotting, Southern; D002952:Citric Acid Cycle / Q000502:physiology; D003318:Corneal Opacity / Q000235:genetics / Q000378:metabolism*; D004272:DNA, Mitochondrial / Q000032:analysis; D004734:Energy Metabolism / Q000502:physiology; D006801:Humans; D007223:Infant; D008297:Male; D008661:Metabolism, Inborn Errors / Q000235:genetics / Q000378:metabolism*; D013577:Syndrome; D014508:Urea / Q000378:metabolism
chemical_list: D000143:Acids; D000596:Amino Acids; D004272:DNA, Mitochondrial; D014508:Urea