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acid maltase deficiency
(phenotype)
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General Info
Genetic Markers
Most Correlated Genes
Most Correlated SNPs
PRUNE2
XIST
IGFN1
MEG3
CHI3L1
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Pathway Enrichment
Most Correlated Biogroups
vesicle
extracellular vesicle
cytoplasmic vesicle
intracellular vesicle
REN_ALVEOLAR_RHABDOMYOSARCOMA_DN
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Curated Studies
Most Correlated Studies
Pompe disease-induced pluripotent stem cells and derivative cardiomyocyte-like cells
Biceps and quadriceps of infantile-onset Pompe disease patients treated with acid alpha-glucosidase
Mouse Phenotypes - Myopathy
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Literature
Most Relevant Literature
Systemic metabolic abnormalities in adult-onset acid maltase deficiency: beyond muscle glycogen accu…
Myalgic phenotype and preserved muscle strength in adult-onset acid maltase deficiency.
Exercise testing in late-onset glycogen storage disease type II patients undergoing enzyme replaceme…
Acid maltase deficiency--Pompe's disease.
Pregnancy during enzyme replacement therapy for late-onset acid maltase deficiency.
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Clinical Trials
Most Relevant Clinical Trials
Safety and Efficacy of Recombinant Human Acid Alpha-Glucosidase in the Treatment of Classical Infant…
Screening Protocol to Evaluate Acid Alpha-Glucosidase (GAA) Activity and GAA Gene Mutations in Patie…
Study About the Evolution of Severe Late Onset Pompe Disease Patient With Pulmonary Dysfunction and …
A Study of the Safety and Pharmacokinetics of rhGAA in Siblings With Glycogen Storage Disease Type I…
Pompe Pregnancy Sub-Registry
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