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 18, 2018
Open Access

Hypoxia-inducible transcription factors, HIF1A and HIF2A, increase in aging mucosal tissues

Jeffrey L EbersoleOctavio A Gonzalez
March 8, 2017
Open Access

Novel GBE1 mutation in a Japanese family with adult polyglucosan body disease

Neurology. Genetics
Yasuo HarigayaShoji Tsuji
December 13, 2019

An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies

Expert Review of Neurotherapeutics
Mahmoud Reza AshrafiAli Reza Tavasoli
October 13, 2018
Open Access

Case of Neonatal Fatality from Neuromuscular Variant of Glycogen Storage Disease Type IV

JIMD Reports
Tavleen SandhuAbhishek Makkar
May 12, 2018
Open Access

Exploring glycogen biosynthesis through Monte Carlo simulation

International Journal of Biological Macromolecules
Peng ZhangRobert G Gilbert
April 14, 2018
Open Access

Neochloris oleoabundans is worth its salt: Transcriptomic analysis under salt and nitrogen stress

PloS One
Lenny de JaegerDirk E Martens
November 8, 2017
Clinical Trial

A double-blind, placebo-controlled trial of triheptanoin in adult polyglucosan body disease and open-label, long-term outcome

Journal of Inherited Metabolic Disease
Raphael SchiffmannFanny Mochel
May 6, 2020
Open Access

Efficient correction of a deleterious point mutation in primary horse fibroblasts with CRISPR-Cas9

Scientific Reports
Carlos Pinzon-ArteagaCharles R Long
March 10, 2017
Case Report
Open Access

Neural correlates of adaptive working memory training in a glycogen storage disease type-IV patient

Annals of Clinical and Translational Neurology
Kristin LeeLinda Chang
January 6, 2018

Adulthood leukodystrophies

Nature Reviews. Neurology
Wolfgang KöhlerAdeline Vanderver
November 22, 2019
Open Access

Glycogen Storage Disease Type IV Diagnosed at Fetal Autopsy

Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
Daniel C ButlerAngelina Phillips
February 17, 2018
Open Access

Addressing the temperature transferability of structure based coarse graining models

Physical Chemistry Chemical Physics : PCCP
David Rosenberger, Nico F A van der Vegt
January 9, 2021

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

Hospital Practice
Jaspreet JohalHussam Yacoub
December 21, 2019

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
September 20, 2018
Case Report
Open Access

Analysis of GBE1 mutations via protein expression studies in glycogen storage disease type IV: A report on a non-progressive form with a literature review

Molecular Genetics and Metabolism Reports
Hiroyuki IijimaMasanori Adachi
November 4, 2020
Case Report

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

I CarneiroA Lima
November 4, 2020

GBE1-related disorders: Adult Polyglucosan Body Disease and its neuromuscular phenotypes

Journal of Inherited Metabolic Disease
Paulo Victor Sgobbi SouzaSalvatore DiMauro

Sign up to follow this feed and discover related papers.

Related Feeds

22q11 Deletion Syndrome

22q11.2 deletion syndrome, also known as DiGeorge syndrome, is a congenital disorder caused as a result of a partial deletion of chromosome 22. Here is the latest research.

4H Leukodystrophy

4H Lekodystrophy involves hypomyelination, hypogonadotropic hypogonadism and hypodontia. It is also known as POLR-3Related Leukodystrophy. 4H syndrome symptoms include delayed or abnormal puberty, issues with central nervous system signal transmission, abnormal development of teeth, and symptoms tend to progressively get worse over time. There is not yet a known cure.

Adenomatous Polyposis Coli

Adenomatous polyposis coli is a protein encoded by the APC gene and acts as a tumor suppressor. Discover the latest research on adenomatous polyposis coli here.

Alzheimer's Disease: Amyloid Beta

Alzheimer's disease is a neurodegenerative disease associated with the accumulation of amyloid plaques in the brain; these plaques are comprised of amyloid beta deposits. Here is the latest research in this field.

Amyloid Lateral Sclerosis

Amyotrophic Lateral Sclerosis (ALS) is a progressive nervous system disease associated with the death of neurons that control voluntary muscles. Discover the latest research on ALS here.

Angelman Syndrome

Angelman syndrome is a neurogenetic imprinting disorder caused by loss of the maternally inherited UBE3A gene and is characterized by generalized epilepsy, limited expressive speech, sleep dysfunction, and movement disorders. Here is the latest research.


Autism spectrum disorder is associated with challenges with social skills, repetitive behaviors, and often accompanied by sensory sensitivities and medical issues. Here is the latest research.

Bullous Pemphigoid

Bullous pemphigoid is a chronic and relatively benign subepidermal blistering disease usually of the elderly and without histopathologic acantholysis. Discover the latest research on bullous pemphigoid here.

CLOVES Syndrome

Congenital, Lipomatous, Overgrowth, Vascular Malformations, Epidermal Nevi and Spinal/Skeletal Anomalies and/or Scoliosis (CLOVES) syndrome is a rare genetic disorder caused by mutations in the PIK3CA gene. Symptoms include blood vessel abnormalities, small tissue tumors, skin legions and spinal abnormalities. Here is the latest research.

Castleman Disease

Castleman disease is rare lymphoproliferative disorder unicentric (localized) or multicentric (systemic). Discover the latest research here.

© 2021 Meta ULC. All rights reserved