5-Oxoprolinuria (glutathione synthetase deficiency): a case with neonatal presentation and rapid fatal outcome.
Divry
P
P
Unité d'Etude des Maladies Métaboliques, Hôpital Debrousse, Lyon, France.
Roulaud-Parrot
F
F
Dorche
C
C
Zabot
M T
MT
Contraire
B
B
Hagenfeldt
L
L
Larsson
A
A
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*
D005981:Glutathione Synthase; D005978:Glutathione; D011761:Pyrrolidonecarboxylic Acid