Modeling CNS Involvement in Pompe Disease Using Neural Stem Cells Generated from Patient-Derived Induced Pluripotent Stem Cells
PMID: PMC7822217
Gene: GAA
Disease: Pompe Disease
Inheritance: Autosomal Recessive
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Clinical laboratory experience of blood CRIM testing in infantile Pompe disease
PMID: 26693141
Gene: GAA
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www.sciencedirect.com www.sciencedirect.com
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Novel GAA mutations in patients with Pompe disease
PMID: 25681614
Gene: GAA
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Function, structure and quality of striated muscles in the lower extremities in patients with late onset Pompe Disease—an MRI study
PMID: 33996274
Gene: GAA
Disease: Pompe Disease
Inheritance: Autosomal Recessive
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