Variants in
            NGLY1
            lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunction

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Title:: Variants in NGLY1 lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunction
Document type:: Zeitschriftenaufsatz
Author(s):: Panneman, Daan M.; Wortmann, Saskia B.; Haaxma, Charlotte A.; Hasselt, Peter M.; Wolf, Nicole I.; Hendriks, Yvonne; Küsters, Benno; Emst‐de Vries, Sjenet; Westerlo, Els; Koopman, Werner J.H.; Wintjes, Liesbeth; Brandt, Frans; Vries, Maaike; Lefeber, Dirk J.; Smeitink, Jan A.M.; Rodenburg, Richard J.
Journal title:: Clinical Genetics
Year:: 2020
Journal volume:: 97
Journal issue:: 4
Pages contribution:: 556-566
Fulltext / DOI:: doi:10.1111/cge.13706
Publisher:: Wiley
E-ISSN:: 0009-91631399-0004
Date of publication:: 30.01.2020
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