title: Symptomatic ornithine carbamoyltransferase deficiency (point mutation H202P) with normal in vitro activity.
authors.affiliation: Children's Hospital, Technical University, Munich, Germany
authors.forename: M
authors.initials: M
authors.lastname: Staudt
authors.forename: B
authors.initials: B
authors.lastname: Wermuth
authors.forename: P
authors.initials: P
authors.lastname: Freisinger
authors.forename: A
authors.initials: A
authors.lastname: Hässler
authors.forename: B F
authors.initials: BF
authors.lastname: Pontz
mesh_terms: D002675:Child, Preschool; D005260:Female; D006639:Histidine / Q000235:genetics / Q000378:metabolism; D006801:Humans; D008099:Liver / Q000201:enzymology; D008661:Metabolism, Inborn Errors / Q000201:enzymology* / Q000235:genetics; D009954:Ornithine Carbamoyltransferase / Q000235:genetics / Q000378:metabolism; D020163:Ornithine Carbamoyltransferase Deficiency Disease; D017354:Point Mutation; D011392:Proline / Q000235:genetics / Q000378:metabolism
chemical_list: D006639:Histidine; D011392:Proline; D009954:Ornithine Carbamoyltransferase