Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS-Reference-Cited by-同舟云学术

Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS

Published:2019-04-11 Issue:15 Volume:380 Page:1433-1441
ISSN:0028-4793
Container-title:New England Journal of Medicine
language:en
Short-container-title:N Engl J Med

Author:

van Kuilenburg André B.P.¹,Tarailo-Graovac Maja¹,Richmond Phillip A.¹,Drögemöller Britt I.¹,Pouladi Mahmoud A.¹,Leen René¹,Brand-Arzamendi Koroboshka¹,Dobritzsch Doreen¹,Dolzhenko Egor¹,Eberle Michael A.¹,Hayward Bruce¹,Jones Meaghan J.¹,Karbassi Farhad¹,Kobor Michael S.¹,Koster Janet¹,Kumari Daman¹,Li Meng¹,MacIsaac Julia¹,McDonald Cassandra¹,Meijer Judith¹,Nguyen Charlotte¹,Rajan-Babu Indhu-Shree¹,Scherer Stephen W.¹,Sim Bernice¹,Trost Brett¹,Tseng Laura A.¹,Turkenburg Marjolein¹,van Vugt Joke J.F.A.¹,Veldink Jan H.¹,Walia Jagdeep S.¹,Wang Youdong¹,van Weeghel Michel¹,Wright Galen E.B.¹,Xu Xiaohong¹,Yuen Ryan K.C.¹^ORCID,Zhang Jinqiu¹,Ross Colin J.¹,Wasserman Wyeth W.¹,Geraghty Michael T.¹,Santra Saikat¹,Wanders Ronald J.A.¹,Wen Xiao-Yan¹,Waterham Hans R.¹,Usdin Karen¹,van Karnebeek Clara D.M.¹

Affiliation:

1. From Amsterdam University Medical Centers, University of Amsterdam, Departments of Clinical Chemistry, Pediatrics, and Clinical Genetics, Emma Children’s Hospital, Amsterdam Gastroenterology and Metabolism (A.B.P.K., R.L., J.K., J. Meijer, L.A.T., M.T., M.W., R.J.A.W., H.R.W., C.D.M.K.), and United for Metabolic Diseases (A.B.P.K., R.J.A.W., H.R.W., C.D.M.K.), Amsterdam, and the Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht (J.J.F.A.V., J.H.V.), and the Project...

Funder

Alberta Children’s Hospital Research Institute Foundation

BC Children’s Hospital

Fondation Brain Canada

Michael Smith Foundation for Health Research

Stichting Metakids

Natural Sciences and Engineering Research Council of Canada

Genome Canada

National Ataxia Foundation

Canadian Institutes of Health Research

Publisher

Massachusetts Medical Society