ALLMedicine™ Adult Polyglucosan Body Disease Center
Research & Reviews 49 results
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 8th, 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...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7658204
Journal of Inherited Metabolic Disease REFERENCES; Souza PVS, Badia BML et. al.
Nov 3rd, 2020 - Despite the relative ease of locating organs in the human body, automated organ segmentation has been hindered by the scarcity of labeled training data. Due to the tedium of labeling organ boundaries, most datasets are limited to either a small nu...
https://www.ncbi.nlm.nih.gov/books/n/gene/apbd/
Sep 16th, 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...
https://doi.org/10.1080/07315724.2019.1695233
Journal of the American College of Nutrition; De Amicis R, Leone A et. al.
Dec 20th, 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 ...
https://clinicaltrials.gov/ct2/show/NCT00947960
Mar 4th, 2018 - Adult polyglucosan disease is a progressive neurogenetic disorder characterized by neurogenic bladder, progressive difficulty with walking, and sensory abnormalities in the lower extremities which typically present in the 4th or 5th decade of life...
Clinicaltrials.gov 49 results
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 8th, 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...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7658204
Journal of Inherited Metabolic Disease REFERENCES; Souza PVS, Badia BML et. al.
Nov 3rd, 2020 - Despite the relative ease of locating organs in the human body, automated organ segmentation has been hindered by the scarcity of labeled training data. Due to the tedium of labeling organ boundaries, most datasets are limited to either a small nu...
https://www.ncbi.nlm.nih.gov/books/n/gene/apbd/
Sep 16th, 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...
https://doi.org/10.1080/07315724.2019.1695233
Journal of the American College of Nutrition; De Amicis R, Leone A et. al.
Dec 20th, 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 ...
https://clinicaltrials.gov/ct2/show/NCT00947960
Mar 4th, 2018 - Adult polyglucosan disease is a progressive neurogenetic disorder characterized by neurogenic bladder, progressive difficulty with walking, and sensory abnormalities in the lower extremities which typically present in the 4th or 5th decade of life...
News 2 results
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.
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.