title: Triosephosphate isomerase deficiency. genetic, enzymatic and metabolic characterization of a new case from Spain.
authors.affiliation: Unitat de Bioquímica, Departament de Ciències Fisiològiques I, Facultat de Medicina, Institut d'Investigacións Biomèdiques August Pi i Sunyer (IDIBAPS), Universitat de Barcelona, Casanovas 143, 08036 Barcelona, Spain.
authors.forename: Ada
authors.initials: A
authors.lastname: Repiso
authors.forename: Joan
authors.initials: J
authors.lastname: Boren
authors.forename: Fernando
authors.initials: F
authors.lastname: Ortega
authors.forename: Assumpció
authors.initials: A
authors.lastname: Pujades
authors.forename: Josep
authors.initials: J
authors.lastname: Centelles
authors.forename: Joan Lluis
authors.initials: JL
authors.lastname: Vives-Corrons
authors.forename: Fernando
authors.initials: F
authors.lastname: Climent
authors.forename: Marta
authors.initials: M
authors.lastname: Cascante
authors.forename: José
authors.initials: J
authors.lastname: Carreras
mesh_terms: D000745:Anemia, Hemolytic, Congenital / Q000201:enzymology / Q000209:etiology / Q000235:genetics; D002675:Child, Preschool; D005260:Female; D006019:Glycolysis; D006720:Homozygote; D006801:Humans; D009154:Mutation; D009468:Neuromuscular Diseases / Q000201:enzymology / Q000209:etiology / Q000235:genetics; D013030:Spain; D014305:Triose-Phosphate Isomerase / Q000172:deficiency* / Q000235:genetics
chemical_list: D014305:Triose-Phosphate Isomerase