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About 55 results

ALLMedicine™ Adult Polyglucosan Body Disease Center

Research & Reviews  20 results

Improving the efficacy of exome sequencing at a quaternary care referral centre: novel ...
https://doi.org/10.1136/jnnp-2020-325437
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://doi.org/10.1007/s13311-021-01040-7 10.2174/1566524024605761 10.1016/j.tplants.2013.08.004 10.1002/ana.410440604 10.1016/j.gene.2012.12.065 10.1074/jbc.M807428200 10.1073/pnas.0503285102 10.1038/s41582-018-0057-0 10.1038/2470 10.1038/ng1238 10.1371/journal.pgen.1002037 10.1002/acn3.51211 10.1007/s12035-019-01842-z 10.1017/erm.2020.5 10.1007/s12035-016-9884-4 10.1016/j.nbd.2020.105173 10.1007/s12035-020-02170-3 10.1111/jnc.15176 10.1074/jbc.RA120.015773 10.1093/hmg/11.11.1251 10.1002/ana.22156 10.1093/hmg/ddv385 10.1002/ana.24104 10.1093/hmg/ddu024 10.1007/s11481-019-09849-y 10.1016/j.lfs.2020.118165 10.1038/nbt.2647 10.1038/nature14299 10.1089/hum.2016.013 10.1038/mtm.2016.2 10.1038/nmeth.2089 10.1038/s41592-019-0582-9 10.1074/jbc.RA120.015061 10.1124/jpet.106.115550 10.3389/fncel.2015.00431 10.15252/emmm.201707608 10.1016/j.devcel.2015.01.035 10.1007/s11011-020-00630-2 10.1016/j.brainres.2011.03.014 10.1016/j.ymthe.2020.09.033 10.1186/s13059-015-0817-8 10.1038/sj.gt.3301514 10.1038/sj.gt.3302134 10.1016/j.omtm.2018.02.005 10.1016/S0378-1119(02)00878-8 10.1016/j.febslet.2009.10.036 10.1007/s12035-021-02285-1
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...

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 ...

Adulthood leukodystrophies.
https://doi.org/10.1038/nrneurol.2017.175
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...

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News  2 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.

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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