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Last Updated: 01/07/2026

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Found 244 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

Congenital neuromuscular variant of glycogen storage disease type IV presenting as hypertrophic cardiomyopathy.

Congenital neuromuscular variant of glycogen storage disease type IV presenting as hypertrophic cardiomyopathy.

Journal: BMJ case reports
Published: August 14, 2025

Noninfectious endocarditis as a novel cardiac manifestation of glycogen storage disease type IV: a case report.

Noninfectious endocarditis as a novel cardiac manifestation of glycogen storage disease type IV: a case report.

Journal: Translational pediatrics
Published: June 15, 2025

Clinical phenotype and trio whole exome sequencing data from a patient with glycogen storage disease IV in Indonesia.

Clinical phenotype and trio whole exome sequencing data from a patient with glycogen storage disease IV in Indonesia.

Journal: Data in brief
Published: September 09, 2024

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.

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

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

Natural history study of hepatic glycogen storage disease type IV and comparison to Gbe1ys/ys model.

Natural history study of hepatic glycogen storage disease type IV and comparison to Gbe1ys/ys model.

Journal: JCI insight
Published: November 29, 2023

Myofiber-type-dependent 'boulder' or 'multitudinous pebble' formations across distinct amylopectinoses.

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.

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

Infant Born With Autosomal Recessive Glycogen Storage Disease Type IV due to Complete Maternal Isodisomy of Chromosome 3.

Infant Born With Autosomal Recessive Glycogen Storage Disease Type IV due to Complete Maternal Isodisomy of Chromosome 3.

Journal: Case reports in genetics
Published: November 09, 2023

Case report: Expanding the understanding of the adult polyglucosan body disease continuum: novel presentations, diagnostic pitfalls, and clinical pearls.

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.

Proteomic investigations of adult polyglucosan body disease: insights into the pathobiology of a neurodegenerative disorder.

Journal: Frontiers in neurology
Published: July 18, 2023
Showing 1-12 of 244

Last Updated: 01/07/2026