Associated Papers
Dermatomyositis masking late onset Pompe disease in a patient with proximal muscle weakness.
Keritam O et al.
Journal of Neuromuscular Diseases, 2025
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
A computational method to characterize the missense mutations in the catalytic domain of GAA protein causing Pompe disease.
Thirumal Kumar D et al.
Journal of Cellular Biochemistry, 2019
Structure of human lysosomal acid α-glucosidase-a guide for the treatment of Pompe disease.
Roig-Zamboni V et al.
Nature Communications, 2017
29061980 (PubMed )
Supplement: 41467_2017_1263_MOESM1_ESM.pdf
A novel mutation of the GAA gene in a patient with adult-onset Pompe disease lacking a disease-specific pathology.
Fujimoto S et al.
Internal Medicine (tokyo, Japan), 2013
A Novel Mutation of the Gaa Gene in a Patient with Early-Onset Pompe Disease Lacking a Disease-Specific Pathology.
Kilic B et al.
Genetic Counseling (geneva, Switzerland), 0
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