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Variable clinical features and genotype-phenotype correlations in 18 patients with late-onset Pompe disease

Annals of Translational Medicine

Jul 1, 2019

Jousef Alandy-DyVirginia E Kimonis

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Abstract

Pompe disease is a lysosomal storage disorder caused by the deficiency of enzyme acid alpha-glucosidase (GAA) which results in accumulation of glycogen, particularly in the skeletal, cardiac, and smooth muscles. The late-onset form with symptoms presenting in childhood through adulthood...read more

Mentioned in this Paper

Alpha-glucosidase
Aneurysm
Complication
Genetic Techniques
Glycogen
Glycogen Storage Disease Type II
Graves Disease
Heart
Mice, Inbred BALB C
Muscle
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Variable clinical features and genotype-phenotype correlations in 18 patients with late-onset Pompe disease

Annals of Translational Medicine

Jul 1, 2019

Jousef Alandy-DyVirginia E Kimonis

PMID: 31392188

DOI: 10.21037/atm.2019.06.48

Abstract

Pompe disease is a lysosomal storage disorder caused by the deficiency of enzyme acid alpha-glucosidase (GAA) which results in accumulation of glycogen, particularly in the skeletal, cardiac, and smooth muscles. The late-onset form with symptoms presenting in childhood through adulthood...read more

Mentioned in this Paper

Alpha-glucosidase
Aneurysm
Complication
Genetic Techniques
Glycogen

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