Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families
Jörn Oliver Sass(Boston Children's Hospital), Clara van Karnebeek, Corinne Gemperle-Britschgi(University Children's Hospital Zurich), Bjørn Magne Jåtun(Ålesund Hospital), Ivailo Tournev(Université Paris-Sud), Maja Tarailo‐Graovac(Alberta Children's Hospital), Hilary Vallance(University of British Columbia), Markus Rauchenzauner, Daniel Beumer(University of British Columbia), Linhua Zhang(Chinese Academy of Medical Sciences & Peking Union Medical College), Nuria García Segarra(University of Lausanne), Majid Alfadhel(King Saud bin Abdulaziz University for Health Sciences), Ivo Barić(University Hospital Centre Zagreb), Merten Kriewitz(Verbundkrankenhaus Bernkastel), Sema Kalkan Uçar(Ege University), Michael T. Geraghty(University of Ottawa), Albena Jordanova(University of Antwerp), Claudia Till(Hochschule Bonn-Rhein-Sieg), Eissa Faqeih(King Fahd Medical City), Karmen Bilić(University Hospital Centre Zagreb), Melanie Walter(The University of Sydney), Fowzan S. Alkuraya(Alfaisal University), Bryan Sayson(University of British Columbia), Cynthia Xin Ye(University Medical Center Freiburg), Mahmut Çöker(Ege University), Nisha Patel(King Faisal Specialist Hospital & Research Centre), Aynur Damli-Huber(Kliniken des Bezirks Oberbayern)
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