ALLMedicine™ Adult Polyglucosan Body Disease Center
Research & Reviews 21 results
Journal of Neurology, Neurosurgery, and Psychiatry; Grunseich C, Sarkar N et. al.
Jun 10th, 2021 - We used a multimodal approach including detailed phenotyping, whole exome sequencing (WES) and candidate gene filters to diagnose rare neurological diseases in individuals referred by tertiary neurology centres. WES was performed on 66 individuals...
Neurotherapeutics : the Journal of the American Society F... Gumusgoz E, Guisso DR et. al.
Apr 9th, 2021 - Many adult and most childhood neurological diseases have a genetic basis. CRISPR/Cas9 biotechnology holds great promise in neurological therapy, pending the clearance of major delivery, efficiency, and specificity hurdles. We applied CRISPR/Cas9 g...
Journal of Inherited Metabolic Disease; Souza PVS, Badia BML et. al.
Nov 4th, 2020 - Adult polyglucosan body disease (APBD) represents a complex autosomal recessive inherited neurometabolic disorder due to homozygous or compound heterozygous pathogenic variants in GBE1 gene, resulting in deficiency of glycogen-branching enzyme and...
Sep 17th, 2020 - Most individuals with classic GBE1 adult polyglucosan body disease (GBE1-APBD) present after age 40 years with unexplained progressive neurogenic bladder, gait difficulties (i.e., spasticity and weakness) from mixed upper and lower motor neuron in...
Journal of the American College of Nutrition; De Amicis R, Leone A et. al.
Dec 21st, 2019 - Objective: An anaplerotic diet with the odd-chain triglyceride (triheptanoin-C7TG) supplementation was tested as a therapy for Adult Polyglucosan Body Disease (APBD) and is currently being assessed for various metabolic disorders. The aim of this ...
News 2 results
Sep 23rd, 2016 - Grants made possible by the “Million Dollar Bike Ride” and rare disease patient organizations are now available through the University of Pennsylvania Orphan Disease Center. September 16 is the deadline for letters of intent.
May 13th, 2016 - The National Organization for Rare Disorders (NORD) will develop longitudinal natural history studies with 20 rare disease patient organizations to advance understanding of rare diseases and support research. The project is supported in part by a.