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
CDP-ribitol prodrug treatment ameliorates ISPD-deficient muscular dystrophy mouse model.
Tokuoka H et al.
Nature Communications, 2022
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
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan.
Roscioli T et al.
Nature Genetics, 2012
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