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Journal Article
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, ISSN 0027-8424, 05/2019, Volume 116, Issue 20, pp. 9865 - 9870
Journal Article
Human Mutation, ISSN 1059-7794, 08/2019, Volume 40, Issue 8, pp. 1010 - 1012
The congenital disorders of glycosylation are a diverse group of disorders, which present both common and unique challenges in the diagnosis of rare disorders.... 
autosomal | transferrin | X‐linked | glycosylation | congenital | VARIANTS | GENETICS & HEREDITY | X-linked | Genetic disorders | Phenotypes | Glycosylation | Congenital diseases | Index Medicus
Journal Article
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 5/2018, Volume 41, Issue 3, pp. 499 - 513
Journal Article
2012, Glycobiology : the discovery of glycan function and its fundamental applications
Web Resource
Epileptic Disorders, ISSN 1294-9361, 03/2017, Volume 19, Issue 1, pp. 15 - 23
Journal Article
European Journal of Neurology, ISSN 1351-5101, 09/2019, Volume 26, Issue 9, pp. 1141 - 1142
Journal Article