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About 63 results

ALLMedicine™ Adult Polyglucosan Body Disease Center

Research & Reviews  22 results

Improving the efficacy of exome sequencing at a quaternary care referral centre: novel ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8522445
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...

Targeting Gys1 with AAV-SaCas9 Decreases Pathogenic Polyglucosan Bodies and Neuroinflam...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8423949
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...

GBE1-related disorders: Adult polyglucosan body disease and its neuromuscular phenotypes.
https://doi.org/10.1002/jimd.12325
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...

GBE1 Adult Polyglucosan Body Disease - GeneReviews® - NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/n/gene/apbd/

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...

Triheptanoin Supplementation Does not Affect Nutritional Status: A Case Report of Two S...
https://doi.org/10.1080/07315724.2019.1695233
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 ...

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News  3 results

University of Pennsylvania Orphan Disease Center Posts RFPs
https://www.mdedge.com/familymedicine/article/113282/rare-diseases/university-pennsylvania-orphan-disease-center-posts-rfps
Neurology Reviews;

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.

University of Pennsylvania Orphan Disease Center Posts RFPs
https://www.mdedge.com/neurology/article/113282/rare-diseases/university-pennsylvania-orphan-disease-center-posts-rfps

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.

Study Documents Misdiagnosis of Adult Polyglucosan Body Disease (APBD)
https://www.mdedge.com/neurology/article/103690/rare-diseases/study-documents-misdiagnosis-adult-polyglucosan-body-disease

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.

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