Impairment of cognitive function in ornithine transcarbamylase deficiency is global rather than domain‐specific and is associated with disease onset, sex, maximum ammonium, and number of hyperammonemic events-Reference-Cited by-同舟云学术

Impairment of cognitive function in ornithine transcarbamylase deficiency is global rather than domain‐specific and is associated with disease onset, sex, maximum ammonium, and number of hyperammonemic events

Published:2019-01-22 Issue:2 Volume:42 Page:243-253
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Buerger Corinna¹,Garbade Sven F.¹,Dietrich Alber Fabienne²,Waisbren Susan E.³,McCarter Robert⁴,Kölker Stefan¹,Burgard Peter¹^ORCID,Ah Mew Nicholas,Batshaw Mark L.,Baumgartner Matthias R.,Berry Susan A.,Coughlin Curtis,Cederbaum Stephen,Diaz George A.,Feigenbaum Annette,Gallagher Renata C.,Harding Cary O.,Hoffmann Georg,Kerr Douglas S.,Lee Brendan,Le Mons Cynthia,Lichter‐Konecki Uta,McCandless Shawn E.,Lawrence Merritt J.,Nagamani Sandesh CS,Schulze Andreas,Seashore Margretta R.,Stricker Tamar,Summar Marshall L.,Tuchman Mendel,Waisbren Susan,Weisfeld‐Adams James,Wong Derek,Yudkoff Marc,

Affiliation:

1. Division of Neuropaediatrics and Inherited Metabolic DiseasesCentre for Child and Adolescent Medicine, University Hospital Heidelberg Heidelberg Germany

2. Division of Metabolism and Children's Research CentreUniversity Children's Hospital Zurich Zurich Switzerland

3. Division of Genetics and GenomicsChildren's Hospital and Harvard Medical School Boston Massachusetts

4. Center for Translational Sciences, Children's National Health SystemThe George Washington University Washington District of Columbia

Funder

National Center for Advancing Translational Sciences

Eunice Kennedy Shriver National Institute of Child Health and Human Development

Kettering Fund

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12013

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