Associated Papers
Diagnostic accuracy and the first genotype-phenotype correlation in glycogen storage disease type V.
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Pediatric Research, 2024
Clinical and molecular characterization of McArdle's disease in Brazilian patients.
Gurgel-Giannetti J et al.
Neuromolecular Medicine, 2013
A proposed molecular diagnostic flowchart for myophosphorylase deficiency (McArdle disease) in blood samples from Spanish patients.
Rubio JC et al.
Human Mutation, 2007
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