Clinical and laboratory features of patients with myophosphorylase deficiency (McArdle disease)
Author:
Publisher
Elsevier BV
Subject
Physiology (medical),Clinical Neurology,Neurology,General Medicine,Surgery
Reference28 articles.
1. Myopathy due to a defect in muscle glycogen breakdown;McArdle;Clin Sci,1951
2. Chronic progressive myopathy with myoglobinuria: demonstration of a glycogenolytic defect in the muscle;Schmid;J Clin Invest,1959
3. Molecular heterogeneity of myophosphorylase deficiency (McArdle’s disease): a genotype–phenotype correlation study;Martin;Ann Neurol,2001
4. Myophosphorylase deficiency (Glycogenosis type V; McArdle disease);DiMauro;Curr Mol Med,2002
5. Nonlysosomal glycogenoses;Engel,1994
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1. Severe Liver Injury Secondary to COVID-19-Induced Rhabdomyolysis in McArdle Disease;Cureus;2023-01-24
2. Rhabdomyolysis Episode in an Individual with McArdle’s Disease after Low Aerobic Exercise;Saudi Journal of Kidney Diseases and Transplantation;2022-02
3. Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry);Orphanet Journal of Rare Diseases;2020-10-15
4. Exercise testing-based algorithms to diagnose McArdle disease and MAD defects;Acta Neurologica Scandinavica;2018-05-10
5. McArdle Disease: Update of Reported Mutations and Polymorphisms in thePYGMGene;Human Mutation;2015-06-03
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