title: 5-Oxoprolinase deficiency associated with severe psychomotor developmental delay, failure to thrive, microcephaly and microcytic anaemia.
authors.affiliation: Department of General Pediatrics, University Children's Hospital, Heidelberg, Germany.
authors.forename: E
authors.initials: E
authors.lastname: Mayatepek
authors.forename: G F
authors.initials: GF
authors.lastname: Hoffmann
authors.forename: A
authors.initials: A
authors.lastname: Larsson
authors.forename: K
authors.initials: K
authors.lastname: Becker
authors.forename: H J
authors.initials: HJ
authors.lastname: Bremer
mesh_terms: D000740:Anemia / Q000201:enzymology / Q000235:genetics; D002658:Developmental Disabilities / Q000201:enzymology / Q000235:genetics*; D005183:Failure to Thrive / Q000201:enzymology / Q000235:genetics; D005260:Female; D005978:Glutathione / Q000097:blood; D005981:Glutathione Synthase / Q000097:blood; D006801:Humans; D007231:Infant, Newborn; D008831:Microcephaly / Q000201:enzymology / Q000235:genetics; D011752:Pyroglutamate Hydrolase / Q000172:deficiency*
chemical_list: D011752:Pyroglutamate Hydrolase; D005981:Glutathione Synthase; D005978:Glutathione