Associated Papers
Current status of newborn screening for Pompe disease in Japan.
Sawada T et al.
Orphanet Journal of Rare Diseases, 2021
Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease-associated variants, common sequence variants, and results from newborn screening.
de Faria DOS et al.
Human Mutation, 2021
Newborn screening for Pompe disease in Japan: report and literature review of mutations in the GAA gene in Japanese and Asian patients.
Momosaki K et al.
Journal of Human Genetics, 2019
Interpretation of acid α-glucosidase activity in creatine kinase elevation: A case of Becker muscular dystrophy.
Oitani Y et al.
Brain & Development, 2018
Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating.
Kroos M et al.
Human Mutation, 2008
Homozygosity for multiple contiguous single-nucleotide polymorphisms as an indicator of large heterozygous deletions: identification of a novel heterozygous 8-kb intragenic deletion (IVS7-19 to IVS15-17) in a patient with glycogen storage disease type II.
Huie ML et al.
American Journal of Human Genetics, 2002
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