Adult Polyglucosan Body Disease Latest Advances

Find the Latest Research About Adult Polyglucosan Body Disease

Last Updated: 02/24/2026

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Found 128 publications

Predicting subtypes of glycogen storage disease type IV: Challenges of hepatic subtypes and genotype-phenotype correlation.

Predicting subtypes of glycogen storage disease type IV: Challenges of hepatic subtypes and genotype-phenotype correlation.

Journal: Molecular genetics and metabolism
Published: August 14, 2025

Systemic Disease Progression and Neurodegeneration in the Gbe1ys/ys Mouse Model of Glycogen Storage Disease IV.

Systemic Disease Progression and Neurodegeneration in the Gbe1ys/ys Mouse Model of Glycogen Storage Disease IV.

Journal: The American journal of pathology
Published: April 30, 2025

Splice-modulating antisense oligonucleotides targeting a pathogenic intronic variant in adult polyglucosan body disease correct mis-splicing and restore enzyme activity in patient cells.

Splice-modulating antisense oligonucleotides targeting a pathogenic intronic variant in adult polyglucosan body disease correct mis-splicing and restore enzyme activity in patient cells.

Journal: Nucleic acids research
Published: March 10, 2025

Adult polyglucosan body disease: ultrarare but commonly misdiagnosed.

Adult polyglucosan body disease: ultrarare but commonly misdiagnosed.

Journal: Practical neurology
Published: January 27, 2025

Clinical genetic analysis of an adult polyglucosan body disease (APBD) family caused by the compound heterozygous variant of GBE1 p.R156C and deletion exon 3-7.

Clinical genetic analysis of an adult polyglucosan body disease (APBD) family caused by the compound heterozygous variant of GBE1 p.R156C and deletion exon 3-7.

Journal: Frontiers in genetics
Published: October 22, 2024

Disorders with prominent posterior fossa involvement.

Disorders with prominent posterior fossa involvement.

Journal: Handbook of clinical neurology
Published: September 25, 2024

Neuro-Ophthalmic Manifestations of Adult Polyglucosan Body Disease.

Neuro-Ophthalmic Manifestations of Adult Polyglucosan Body Disease.

Journal: Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society
Published: August 15, 2024

Editorial: Inborn errors of carbohydrate metabolism.

Editorial: Inborn errors of carbohydrate metabolism.

Journal: Frontiers in genetics
Published: May 09, 2024

Neurological glycogen storage diseases and emerging therapeutics.

Neurological glycogen storage diseases and emerging therapeutics.

Journal: Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics
Published: May 09, 2024

Glycogen synthase GYS1 overactivation contributes to glycogen insolubility and malto-oligoglucan-associated neurodegenerative disease.

Glycogen synthase GYS1 overactivation contributes to glycogen insolubility and malto-oligoglucan-associated neurodegenerative disease.

Journal: The EMBO journal
Published: May 01, 2024

Phenotypic and genotyping spectrum of two Iranian cases with RBCK1-associated polyglucosan body myopathy.

Phenotypic and genotyping spectrum of two Iranian cases with RBCK1-associated polyglucosan body myopathy.

Journal: Neuropathology : official journal of the Japanese Society of Neuropathology
Published: March 28, 2024

Development of the APBD-SQ, a novel patient-reported outcome for health-related quality of life in adult polyglucosan body disease.

Development of the APBD-SQ, a novel patient-reported outcome for health-related quality of life in adult polyglucosan body disease.

Journal: Journal of the neurological sciences
Published: February 27, 2024
Showing 1-12 of 128

Last Updated: 02/24/2026