Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic HK1 Variants

Wortmann, Saskia B.; Feichtinger, Rene G.; Abela, Lucia; van Gemert, Loes A.; Aubart, Melodie; Dufeu-Berat, Claire-Marine; Boddaert, Nathalie; de Coo, Rene; Stuehn, Lara; Hebbink, Jasmijn; Heinritz, Wolfram; Hildebrandt, Julia; Himmelreich, Nastassja; Korenke, Christoph; Lehman, Anna; Leyland, Thomas; Makowski, Christine; Martinez Marin, Rafael Jenaro; Marzin, Pauline; Muehlhausen, Chris; Rio, Marlene; Rotig, Agnes; Roux, Charles-Joris; Schiff, Manuel; Haack, Tobias B.; Syrbe, Steffen; Zylicz, Stas A.; Thiel, Christian; Veiga da Cunha, Maria; van Schaftingen, Emile; Wagner, Matias; Mayr, Johannes A.; Wevers, Ron A.; Boltshauser, Eugen; Willemsen, Michel A.

Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic HK1 Variants

Autor(en):

Wortmann, Saskia B.; Feichtinger, Rene G.; Abela, Lucia; van Gemert, Loes A.; Aubart, Melodie; Dufeu-Berat, Claire-Marine; Boddaert, Nathalie; de Coo, Rene; Stuehn, Lara; Hebbink, Jasmijn; Heinritz, Wolfram; Hildebrandt, Julia; Himmelreich, Nastassja; Korenke, Christoph; Lehman, Anna; Leyland, Thomas; Makowski, Christine; Martinez Marin, Rafael Jenaro; Marzin, Pauline; Muehlhausen, Chris; Rio, Marlene; Rotig, Agnes; Roux, Charles-Joris; Schiff, Manuel; Haack, Tobias B.; Syrbe, Steffen; Zylicz, Stas A.; Thiel, Christian; Veiga da Cunha, Maria; van Schaftingen, Emile; Wagner, Matias; Mayr, Johannes A.; Wevers, Ron A.; Boltshauser, Eugen; Willemsen, Michel A.

Tübinger Autor(en):

Stühn, Lara
Haack, Tobias

Erschienen in:

Neurology - Genetics (2024), Bd. 10, H. 2

Verlagsangabe:

Philadelphia : Lippincott Williams & Wilkins

Sprache:

Englisch

Referenz zum Volltext:

http://dx.doi.org/10.1212/NXG.0000000000200146

ISSN:

2376-7839