Associated Papers
A child of congenital muscular dystrophy-dystroglycanopathy with a novel variant in the CRPPA gene: a case report and literature review.
Zhang S et al.
Translational Pediatrics, 2025
Case Report: ISPD Gene Mutation Leads to Dystroglycanopathies: Genotypic Phenotype Analysis and Treatment Exploration.
Yang H et al.
Frontiers in Pediatrics, 2021
Cytidine Diphosphate-Ribitol Analysis for Diagnostics and Treatment Monitoring of Cytidine Diphosphate-l-Ribitol Pyrophosphorylase A Muscular Dystrophy.
van Tol W et al.
Clinical Chemistry, 2019
Human ISPD Is a Cytidyltransferase Required for Dystroglycan O-Mannosylation.
Riemersma M et al.
Chemistry & Biology, 2015
Limb-girdle muscular dystrophy with α-dystroglycan deficiency and mutations in the ISPD gene.
Tasca G et al.
Neurology, 2013
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