Massive 5-oxoprolinuria with normal 5-oxoprolinase and glutathione synthetase activities.
Riudor
E
E
Laboratori de Metabolopaties, Hospital Materno-Infantil Vall d'Hebron, Barcelona, España. eriudor@cs.vhebron.es
Arranz
J A
JA
Alvarez
R
R
Carlsson
K
K
del Toro
M
M
Salmerón
F
F
Piñol
F
F
Ristoff
E
E
Sentis
M
M
Larsson
A
A
D001997:Bronchopulmonary Dysplasia / Q000150:complications; D003404:Creatinine / Q000652:urine; D004200:Diseases in Twins; D017809:Fatal Outcome; D005347:Fibroblasts / Q000201:enzymology; D005865:Gestational Age; D005981:Glutathione Synthase / Q000235:genetics / Q000378:metabolism*; D006801:Humans; D007231:Infant, Newborn; D007234:Infant, Premature; D007236:Infant, Small for Gestational Age; D008297:Male; D011752:Pyroglutamate Hydrolase / Q000378:metabolism*; D011761:Pyrrolidonecarboxylic Acid / Q000652:urine*
D003404:Creatinine; D011752:Pyroglutamate Hydrolase; D005981:Glutathione Synthase; D011761:Pyrrolidonecarboxylic Acid