Associated Papers
Acute kidney injury after swimming: a pediatric case of McArdle disease.
Derakhshan D et al.
Pediatric Nephrology (berlin, Germany), 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
35618720 (PubMed )
Supplement: 41467_2022_30526_MOESM5_ESM.xlsx › Data_2
McArdle Disease: Clinical, Biochemical, Histological and Molecular Genetic Analysis of 60 Patients.
Joshi PR et al.
Biomedicines, 2020
Analysis of spectrum and frequencies of mutations in McArdle disease. Identification of 13 novel mutations.
Deschauer M et al.
Journal of Neurology, 2007
Select a paper to view details