Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy
Publication year
2019Source
American Journal of Human Genetics, 105, 3, (2019), pp. 534-548ISSN
Publication type
Article / Letter to editor
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Organization
Paediatrics
Laboratory Medicine
Neurology
Journal title
American Journal of Human Genetics
Volume
vol. 105
Issue
iss. 3
Page start
p. 534
Page end
p. 548
Subject
All institutes and research themes of the Radboud University Medical Center; Radboudumc 0: Other Research RIMLS: Radboud Institute for Molecular Life Sciences; Radboudumc 3: Disorders of movement DCMN: Donders Center for Medical Neuroscience; Radboudumc 6: Metabolic Disorders RIMLS: Radboud Institute for Molecular Life SciencesThis item appears in the following Collection(s)
- Academic publications [238430]
- Electronic publications [122512]
- Faculty of Medical Sciences [90359]
- Open Access publications [97507]
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