Associated Papers
GMPPB-CDG Results in Lysosomal Dysfunction and Acid Alpha-Glucosidase Deficiency.
Damiano C et al.
Journal of Inherited Metabolic Disease, 2026
GDP-Mannose Pyrophosphorylase B (GMPPB)-Related Disorders.
Chompoopong P et al.
Genes, 2023
A founder mutation in the GMPPB gene [c.1000G > A (p.Asp334Asn)] causes a mild form of limb-girdle muscular dystrophy/congenital myasthenic syndrome (LGMD/CMS) in South Indian patients.
Polavarapu K et al.
Neurogenetics, 2021
Lysosomal degradation of GMPPB is associated with limb-girdle muscular dystrophy type 2T.
Tian WT et al.
Annals of Clinical and Translational Neurology, 2019
Steroid therapy in an alpha-dystroglycanopathy due to GMPPB gene mutations: A case report.
Fecarotta S et al.
Neuromuscular Disorders : Nmd, 2018
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study.
Astrea G et al.
Orphanet Journal of Rare Diseases, 2018
Select a paper to view details