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.

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
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

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

Addressing the temperature transferability of structure based coarse graining models

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

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 12, 2016
Open Access

Systemic Correction of Murine Glycogen Storage Disease Type IV by an AAV-Mediated Gene Therapy

Human Gene Therapy
Haiqing YiBaodong Sun
August 2, 2016

Rare Germline Copy Number Variations and Disease Susceptibility in Familial Melanoma

The Journal of Investigative Dermatology
Jianxin ShiXiaohong R Yang

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