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