Adult Polyglucosan Body Disease

Adult polyglucosan body disease (APBD) is a rare autosomal recessive disease characterized by defects in the glycogen brancher enzyme 1 (GBE1) gene. Discover the latest research on APBD here.

January 10, 2022
Review

Characterization of cognitive impairment in adult polyglucosan body disease.

Journal of Neurology
Paul Theo ZebhauserMarcus Deschauer
September 6, 2021

Alleviation of a polyglucosan storage disorder by enhancement of autophagic glycogen catabolism.

EMBO Molecular Medicine
Or KakhlonMiguel Weil
May 27, 2021
Open Access

Megarectum: systematic histopathological evaluation of 35 patients and new common pathways in chronic rectal dilatation.

Journal of Clinical Pathology
Joanne E MartinCharles Knowles
April 16, 2021

Alteration of mitochondrial function in the livers of mice with glycogen branching enzyme deficiency.

Biochimie
Dominika MalinskaJerzy Duszynski
April 9, 2021
Open Access

Targeting Gys1 with AAV-SaCas9 Decreases Pathogenic Polyglucosan Bodies and Neuroinflammation in Adult Polyglucosan Body and Lafora Disease Mouse Models.

Neurotherapeutics : the Journal of the American Society for Experimental NeuroTherapeutics
Emrah GumusgozBerge A Minassian
March 31, 2021
Case Report
Open Access

Clinical and genetic spectrum of glycogen storage disease in Iranian population using targeted gene sequencing.

Scientific Reports
Zahra BeyzaeiAlireza Alborzi
March 19, 2021
Preprint
Open Access

A new drug candidate for glycogen storage disorders enhances glycogen catabolism: Lessons from Adult Polyglucosan Body Disease models

BioRxiv : the Preprint Server for Biology
H. VakninMiguel Weil
February 12, 2021
Preprint
Open Access

Targeting Gys1 with AAV-SaCas9 decreases pathogenic polyglucosan bodies and neuroinflammation in Adult Polyglucosan Body and Lafora disease mouse models

BioRxiv : the Preprint Server for Biology
E. GumusgozBerge A Minassian
February 1, 2021
Review

Adult polyglucosan body disease-an atypical compound heterozygous with a novel GBE1 mutation.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Andreia CarvalhoPedro Barros
January 9, 2021

Adult polyglucosan body disease: an acute presentation leading to unmasking of this rare disorder.

Hospital Practice
Jaspreet JohalHussam Yacoub
November 4, 2020
Case Report

Adult polyglucosan body disease - Management and evolution in an intensive rehabilitation program.

Rehabilitación
I CarneiroA Lima
November 4, 2020
Review

GBE1-related disorders: Adult polyglucosan body disease and its neuromuscular phenotypes.

Journal of Inherited Metabolic Disease
Paulo Victor Sgobbi SouzaSalvatore DiMauro
October 14, 2020

Hallmarks of oxidative stress in the livers of aged mice with mild glycogen branching enzyme deficiency

Archives of Biochemistry and Biophysics
Dominika MalinskaJerzy Duszynski
October 10, 2020
Open Access

GYS1 or PPP1R3C deficiency rescues murine adult polyglucosan body disease.

Annals of Clinical and Translational Neurology
Erin E ChownBerge A Minassian
August 21, 2020
Open Access

Sensitive quantification of α-glucans in mouse tissues, cell cultures, and human cerebrospinal fluid.

The Journal of Biological Chemistry
Silvia NitschkeFelix Nitschke
May 27, 2020
Case Report
Open Access

Two cases of a non-progressive hepatic form of glycogen storage disease type IV with atypical liver pathology

Molecular Genetics and Metabolism Reports
Keiko IchimotoKei Murayama
May 7, 2020

Novel variants in Turkish patients with glycogen storage disease.

Pediatrics International : Official Journal of the Japan Pediatric Society
Nafiye Emel ÇakarHasan Önal
December 21, 2019
Case Report

Triheptanoin Supplementation Does not Affect Nutritional Status: A Case Report of Two Siblings With Adult Polyglucosan Body Disease.

Journal of the American College of Nutrition
Ramona De AmicisSimona Bertoli

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