title: 5-Oxoprolinuria (glutathione synthetase deficiency): a case with neonatal presentation and rapid fatal outcome.
authors.affiliation: Unité d'Etude des Maladies Métaboliques, Hôpital Debrousse, Lyon, France.
authors.forename: P
authors.initials: P
authors.lastname: Divry
authors.forename: F
authors.initials: F
authors.lastname: Roulaud-Parrot
authors.forename: C
authors.initials: C
authors.lastname: Dorche
authors.forename: M T
authors.initials: MT
authors.lastname: Zabot
authors.forename: B
authors.initials: B
authors.lastname: Contraire
authors.forename: L
authors.initials: L
authors.lastname: Hagenfeldt
authors.forename: A
authors.initials: A
authors.lastname: Larsson
mesh_terms: D005260:Female; D005347:Fibroblasts / Q000378:metabolism; D008401:Gas Chromatography-Mass Spectrometry; D005978:Glutathione / Q000378:metabolism; D005981:Glutathione Synthase / Q000172:deficiency*; D006801:Humans; D011247:Pregnancy; D011761:Pyrrolidonecarboxylic Acid / Q000652:urine*
chemical_list: D005981:Glutathione Synthase; D005978:Glutathione; D011761:Pyrrolidonecarboxylic Acid