title: The severe form of type I hyperprolinaemia results from homozygous inactivation of the PRODH gene.
authors.affiliation: INSERM EMI 9906-IFRMP, Faculty of Medicine, Rouen, France.
authors.forename: H
authors.initials: H
authors.lastname: Jacquet
authors.forename: J
authors.initials: J
authors.lastname: Berthelot
authors.forename: C
authors.initials: C
authors.lastname: Bonnemains
authors.forename: G
authors.initials: G
authors.lastname: Simard
authors.forename: P
authors.initials: P
authors.lastname: Saugier-Veber
authors.forename: G
authors.initials: G
authors.lastname: Raux
authors.forename: D
authors.initials: D
authors.lastname: Campion
authors.forename: D
authors.initials: D
authors.lastname: Bonneau
authors.forename: T
authors.initials: T
authors.lastname: Frebourg
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000201:enzymology / Q000209:etiology / Q000235:genetics; D002675:Child, Preschool; D002872:Chromosome Deletion; D002874:Chromosome Mapping / Q000379:methods; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D003241:Consanguinity; D006720:Homozygote; D006801:Humans; D008297:Male; D010641:Phenotype; D011392:Proline / Q000097:blood* / Q000378:metabolism*; D011394:Proline Oxidase / Q000172:deficiency / Q000235:genetics* / Q000378:metabolism
chemical_list: D011392:Proline; D011394:Proline Oxidase