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2024-03-23T02:54:09Z
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Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families.
10.1016/j.ymgme.2016.07.008
27477828
000384631000007
Sass
J.O.
author
Gemperle-Britschgi
C.
author
Tarailo-Graovac
M.
author
Patel
N.
author
Walter
M.
author
Jordanova
A.
author
Alfadhel
M.
author
Barić
I.
author
Çoker
M.
author
Damli-Huber
A.
author
Faqeih
E.A.
author
García Segarra
N.
author
Geraghty
M.T.
author
Jåtun
B.M.
author
Kalkan Uçar
S.
author
Kriewitz
M.
author
Rauchenzauner
M.
author
Bilić
K.
author
Tournev
I.
author
Till
C.
author
Sayson
B.
author
Beumer
D.
author
Ye
C.X.
author
Zhang
L.H.
author
Vallance
H.
author
Alkuraya
F.S.
author
van Karnebeek
C.D.
author
article
2016-09
2016-09
Molecular genetics and metabolism
1096-7206
1096-7192
journal
119
1-2
44-49
Adolescent
Alleles
Amino Acid Metabolism, Inborn Errors/enzymology
Amino Acid Metabolism, Inborn Errors/genetics
Amino Acid Metabolism, Inborn Errors/physiopathology
Child
Child, Preschool
Female
Glutathione/metabolism
Glutathione Synthase/deficiency
Glutathione Synthase/genetics
Heterozygote
Homozygote
Humans
Infant
Male
Mutation
Pyroglutamate Hydrolase/deficiency
Pyroglutamate Hydrolase/genetics
Pyrrolidonecarboxylic Acid/metabolism
5-Oxoprolinase
5-oxoprolinuria
Glutathione synthetase
Pyroglutamic aciduria
γ-glutamyl cycle
eng
60_published
peer-reviewed
Publication types: Journal Article ; Research Support, Non-U.S. Gov't
Publication Status: ppublish