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Variants in NGLY1 lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunction.
Panneman, Daan M; Wortmann, Saskia B; Haaxma, Charlotte A; van Hasselt, Peter M; Wolf, Nicole I; Hendriks, Yvonne; Küsters, Benno; van Emst-de Vries, Sjenet; van de Westerlo, Els; Koopman, Werner J H; Wintjes, Liesbeth; van den Brandt, Frans; de Vries, Maaike; Lefeber, Dirk J; Smeitink, Jan A M; Rodenburg, Richard J.
  • Panneman DM; Radboud Center for Mitochondrial Medicine, Department of Pediatrics, Amalia Children's Hospital, Nijmegen, the Netherlands.
  • Wortmann SB; Radboud Institute for Molecular Life Sciences, Radboudumc, Nijmegen, the Netherlands.
  • Haaxma CA; Radboud Center for Mitochondrial Medicine, Department of Pediatrics, Amalia Children's Hospital, Nijmegen, the Netherlands.
  • van Hasselt PM; University Children's Hospital, Paracelcus Medical University (PMU), Salzburg, Austria.
  • Wolf NI; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.
  • Hendriks Y; Institute of Human Genetics, Technische Universität München, Munich, Germany.
  • Küsters B; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, the Netherlands.
  • van Emst-de Vries S; Department of Metabolic Diseases, Wilhelmina Children's Hospital Utrecht, University Medical Center Utrecht, Utrecht, the Netherlands.
  • van de Westerlo E; Department of Child Neurology, Emma Children's Hospital, Amsterdam UMC - Locatie VUMC and Amsterdam Neuroscience, Vrije Universiteit, Amsterdam, the Netherlands.
  • Koopman WJH; Department of Clinical Genetics, Amsterdam UMC - Locatie VUMC, Amsterdam, the Netherlands.
  • Wintjes L; Department of Pathology, Radboudumc, Nijmegen, the Netherlands.
  • van den Brandt F; Radboud Institute for Molecular Life Sciences, Radboudumc, Nijmegen, the Netherlands.
  • de Vries M; Department of Biochemistry, Raboudumc, Nijmegen, the Netherlands.
  • Lefeber DJ; Radboud Institute for Molecular Life Sciences, Radboudumc, Nijmegen, the Netherlands.
  • Smeitink JAM; Department of Biochemistry, Raboudumc, Nijmegen, the Netherlands.
  • Rodenburg RJ; Radboud Institute for Molecular Life Sciences, Radboudumc, Nijmegen, the Netherlands.
Clin Genet ; 97(4): 556-566, 2020 04.
Article en En | MEDLINE | ID: mdl-31957011
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Polineuropatías / Epilepsias Mioclónicas / Péptido-N4-(N-acetil-beta-glucosaminil) Asparagina Amidasa / Discapacidad Intelectual Límite: Child / Child, preschool / Female / Humans / Male Idioma: En Año: 2020 Tipo del documento: Article
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Polineuropatías / Epilepsias Mioclónicas / Péptido-N4-(N-acetil-beta-glucosaminil) Asparagina Amidasa / Discapacidad Intelectual Límite: Child / Child, preschool / Female / Humans / Male Idioma: En Año: 2020 Tipo del documento: Article