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glycogen storage disease type IV
(phenotype)
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Genetic Markers
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OMIM - Congenital disorder
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Most Relevant Literature
Glycogen synthase downregulation rescues the amylopectinosis of murine RBCK1 deficiency.
Neonatal presentation of lethal neuromuscular glycogen storage disease type IV.
Diffuse reticuloendothelial system involvement in type IV glycogen storage disease with a novel GBE1…
Association of the congenital neuromuscular form of glycogen storage disease type IV with a large de…
Glycogenosis type IV (Andersen disease). Clinical data, pathology, and genetics in a fatal perinatal…
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Biomarker for Glycogen Storage Diseases (BioGlycogen)
A Study of Adeno-Associated Virus Serotype 8-Mediated Gene Transfer of Glucose-6-Phosphatase in Pati…
Glycogen Storage Disease Breath Test Study
Safety, Tolerability, and Pharmacokinetics of UX053 in Patients With Glycogen Storage Disease Type I…
GBE Deficiency (GSD IV and APBD) Natural History Study
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