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Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAHmutations: 20 new mutations in 14 families

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Metadaten
Document Type:Article
Language:English
Author:Jörn Oliver Sass, Corinne Gemperle-Britschgi, Maja Tarailo-Graovac, Nisha Patel, Melanie Walter, Albena Jordanova, Majid Alfadhel, Ivo Barić, Mahmut Coker, Aynur Damli-Huber, Eissa Ali Faqeih, Nuria García Segarra, Michael T. Geraghty, Bjørn Magne Jåtun, Sema Kalkan Ucar, Merten Kriewitz, Markus Rauchenzauner, Karmen Bilić, Ivailo Tournev, Claudia Till, Bryan Sayson, Daniel Beumer, Cynthia Xin Ye, Lin-Hua Zhang, Hilary Vallance, Fowzan S. Alkuraya, Clara D.M. van Karnebeek
Parent Title (English):Molecular Genetics and Metabolism
Volume:119
Issue:1-2
First Page:44
Last Page:49
ISSN:1096-7192
DOI:https://doi.org/10.1016/j.ymgme.2016.07.008
Pubmed Id:http://www.ncbi.nlm.nih.gov/pubmed?term=27477828
Publisher:Elsevier
Date of first publication:2016/07/22
Tag:5-Oxoprolinase; 5-oxoprolinuria; Glutathione synthetase; Pyroglutamic aciduria; γ-glutamyl cycle
Departments, institutes and facilities:Fachbereich Angewandte Naturwissenschaften
Institut für funktionale Gen-Analytik (IFGA)
Dewey Decimal Classification (DDC):5 Naturwissenschaften und Mathematik / 57 Biowissenschaften; Biologie / 576 Genetik und Evolution
Entry in this database:2016/07/27