Oral ribose supplementation in dystroglycanopathy: A single case study

Abstract Three forms of muscular dystrophy‐dystroglycanopathies are linked to the ribitol pathway. These include mutations in the isoprenoid synthase domain‐containing protein (ISPD), fukutin‐related protein (FKRP), and fukutin (FKTN) genes. The aforementioned enzymes are required for generation of...

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Bibliographic Details

Published in:	JIMD Reports
Main Authors:	R. M. J. Thewissen, M. A. Post, D. M. Maas, R. Veizaj, I. Wagenaar, M. Alsady, J. Kools, K. Bouman, H. Zweers, P. G. Meregalli, A. J. van derKooi, P. A. vanDoorn, J. T. Groothuis, D. J. Lefeber, N. C. Voermans
Format:	Article
Language:	English
Published:	Wiley 2024-05-01
Subjects:	alpha‐dystroglycan CDP‐ribitol FKRP muscular dystrophy ribose trial
Online Access:	https://doi.org/10.1002/jmd2.12394