ALLMedicine™ Adult Polyglucosan Body Disease Center
Research & Reviews 20 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...
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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...
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 ...
Nature Reviews. Neurology; Köhler W, Curiel J et. al.
Jan 6th, 2018 - The leukodystrophies are a group of inherited white matter disorders with a heterogeneous genetic background, considerable phenotypic variability and disease onset at all ages. This Review focuses on leukodystrophies with major prevalence or prima...
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.
Oct 20th, 2015 - APBD is a genetic disorder that is frequently misdiagnosed as ALS, MS, and other neurological conditions. Early symptoms usually include bladder dysfunction and gait problems.