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Last Updated: 03/06/2025
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Found 240 publications
Induced pluripotent stem cell (iPSC) modeling validates reduced GBE1 enzyme activity due to a novel variant, p.Ile694Asn, found in a patient with suspected glycogen storage disease IV.
Journal: Molecular genetics and metabolism reports
Published: January 14, 2024
Infant glycogen storage disease type Ⅳ: a clinicopathological and genetic characteristics analysis of five cases
Journal: Zhonghua bing li xue za zhi = Chinese journal of pathology
Published: December 07, 2023
Myofiber-type-dependent 'boulder' or 'multitudinous pebble' formations across distinct amylopectinoses.
Journal: Acta neuropathologica
Published: November 23, 2023
Unraveling a history of overlap: A phenotypic comparison of RBCK1-related disease and glycogen storage disease type IV.
Journal: American journal of medical genetics. Part A
Published: November 12, 2023
Case report: Expanding the understanding of the adult polyglucosan body disease continuum: novel presentations, diagnostic pitfalls, and clinical pearls.
Journal: Frontiers in genetics
Published: August 24, 2023
Proteomic investigations of adult polyglucosan body disease: insights into the pathobiology of a neurodegenerative disorder.
Journal: Frontiers in neurology
Published: July 18, 2023
An Unusual Case of Neonatal Hypotonia and Femur Fracture: Neuromuscular Variant of Glycogen Storage Disease Type IV.
Journal: Children (Basel, Switzerland)
Published: July 12, 2023
Severe neuromuscular forms of glycogen storage disease type IV: Histological, clinical, biochemical, and molecular findings in a large French case series.
Journal: Journal of inherited metabolic disease
Published: May 12, 2023
Glycogen storage disease type IV without detectable polyglucosan bodies: importance of broad gene panels.
Journal: Neuromuscular disorders : NMD
Published: March 19, 2023
Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource.
Journal: Molecular genetics and metabolism
Published: December 12, 2022
Last Updated: 03/06/2025