ALLMedicine™ Fabry Disease Center
Research & Reviews 1,047 results
https://doi.org/10.1007/s40620-022-01375-0 10.1111/j.1464-410X.2011.10847.x 10.1038/sj.ki.5001784 10.1007/s11255-016-1414-9 10.1148/radiol.2019182646 10.1093/ajcp/8.1.28 10.1016/s0022-5347(17)64914-0 10.1007/BF02388397 10.1053/j.ajkd.2011.12.022 10.1093/ndt/gfx009 10.1186/1757-1626-1-161 10.1093/ckj/sfs189 10.4068/cmj.2019.55.1.65 10.1148/radiol.11111595 10.1148/radiol.2491070783 10.1016/j.jacr.2017.04.028 10.1016/j.juro.2016.09.160 10.1016/j.urology.2005.04.003 10.2214/ajr.169.3.9275902 10.1016/s0022-5347(17)42845-x 10.1016/s0022-5347(17)57588-6 10.7727/wimjopen.2014.220 10.1055/s-0031-1296080 10.1016/0090-4295(76)90192-8 10.1073/pnas.202476899 10.1016/j.pediatrneurol.2013.08.001 10.1371/journal.pone.0180939 10.1007/s40620-020-00714-3 10.1038/s41598-021-02812-z 10.5414/CN110510 10.1002/ccr3.1431 10.1259/bjr.20160632 10.1007/s00261-020-02629-w 10.1007/s40620-019-00663-6 10.1159/000502907 10.1371/journal.pone.0230898 10.3390/ijms22010206.PMID:33379210;PMCID:PMC7794923 10.1038/ki.2008.141 10.1111/j.1523-1755.2004.00846.x 10.29245/2572-9411/2020/2.1195 10.1016/S0022-2275(20)41159-9 10.1016/S0022-2275(20)39163-X 10.1016/j.febslet.2007.03.065 10.1038/nm.2171 10.1007/s40620-021-01062-6 10.1097/01.ju.0000103642.29044.71 10.1186/s12894-015-0042-5 10.1159/000475886 10.1089/end.2011.0559 10.1159/000497313 10.1038/s41598-020-76006-4 10.22037/uj.v16i7.6466 10.1089/end.2009.0326 10.1002/ccr3.1302 10.1177/0300060519855573 10.1159/000488685 10.1089/end.2019.0515 10.1590/S1677-5538.IBJU.2018.0074.PMID:30088721;PMCID:PMC6237515
Journal of Nephrology; Capuano I, Buonanno P et. al.
Jun 25th, 2022 - Simple renal cysts are a common finding during abdominal imaging assessment. The incidence increases with age and it is higher in male gender. Parapelvic cysts are a subset of simple cysts that arise within the renal parenchyma, adjacent to the re...
https://clinicaltrials.gov/ct2/show/NCT00196742
Jun 23rd, 2022 - The Fabry Registry is an ongoing, international multi-center, strictly observational program that tracks the routine clinical outcomes for patients with Fabry disease, irrespective of treatment status. No experimental intervention is involved; pat...
https://doi.org/10.1186/s13023-022-02377-8 10.1093/ndt/gfp554 10.1093/ndt/gfaa324 10.1046/j.1523-1755.2003.00160.x 10.1371/journal.pone.0161330 10.1016/S0272-6386(04)01094-7 10.1053/j.ajkd.2005.01.036 10.1038/gim.2018.31 10.1016/j.nephro.2021.03.002 10.1093/ndt/gfl528 10.1159/000494678 10.1159/000452605 10.2169/internalmedicine.55.7367 10.3109/0886022X.2011.647300 10.1093/ckj/sfs119 10.1042/CS20180676 10.1016/j.hlc.2007.03.007 10.1186/s12872-016-0311-6 10.1161/CIRCIMAGING.117.007168 10.1161/CIRCGENETICS.113.000249 10.1016/j.ejmg.2019.103703 10.5455/annalsmedres.2019.12.875 10.3390/ijms19123726 10.1086/376608 10.1086/339431 10.1038/ejhg.2008.109 10.1038/s41598-021-01749-7 10.1007/8904_2015_475 10.1681/ASN.2019050497 10.1046/j.1523-1755.2002.00675.x 10.1371/journal.pone.0063506 10.3390/ijms222111339 10.6061/clinics/2020/e1811 10.1002/humu.22910 10.1186/1750-1172-9-96 10.1016/j.ymgme.2016.08.007 10.1007/s10545-010-9166-7
Orphanet Journal of Rare Diseases; Dai X, Zong X et. al.
Jun 21st, 2022 - Fabry disease (FD, OMIM #301500) is an X-linked lysosomal disorder caused by the deficiency of α-galactosidase A (α-GalA), encoded by the GLA gene. Among more than 1100 reported GLA mutations, few were deep intronic mutations which have been linke...
https://doi.org/10.1186/s13023-022-02392-9 10.1038/gim.2015.42 10.1016/j.jval.2011.05.002 10.1177/2326409816666298 10.1056/NEJM196705252762101 10.1093/hmg/3.10.1795 10.1007/8904_2012_167 10.3390/ijms18010119 10.1007/8904_2015_418 10.1007/s00439-017-1779-6 10.1111/j.1365-2362.2004.01309.x 10.1136/jmg.38.11.769 10.1136/jmg.38.11.750 10.1086/504601 10.1001/jama.281.3.249 10.1161/CIRCGENETICS.109.862920 10.1111/cge.14102 10.1016/j.ymgmr.2019.100529 10.1016/j.ymgme.2018.06.004 10.1016/S0140-6736(09)61493-8 10.1016/j.ymgme.2010.06.002 10.1111/j.1399-0004.2004.00219.x 10.1136/jmedgenet-2011-100407 10.1186/1477-7525-10-116 10.1111/ijcp.12914 10.1080/08035320510031045 10.1111/j.1651-2227.2010.02101.x 10.1111/j.1399-0004.2011.01671.x 10.1016/j.ymgmr.2015.02.002 10.1186/s13023-015-0338-2 10.2147/DDDT.S207856 10.1016/j.clinthera.2020.10.007 10.1016/j.ymgme.2011.03.022 10.3390/ijms17121965 10.1186/s13023-016-0473-4 10.2147/DDDT.S313789 10.2147/DDDT.S249433 10.1093/eurheartj/ehm153 10.1016/j.ymgmr.2017.10.008 10.1136/jmg.2008.065904 10.1212/WNL.0000000000001333 10.1016/j.amjhyper.2006.01.011 10.1111/j.1523-1755.2005.00294.x 10.1159/000168482 10.2215/CJN.03130411 10.1016/j.ekir.2019.05.597 10.1016/j.ymgme.2018.12.392 10.1111/j.1432-2277.2008.00824.x 10.1080/08035320510028076 10.1186/s12883-017-0810-9 10.1186/s12886-016-0374-2 10.1136/bjo.2006.100602 10.1371/journal.pone.0120814 10.1111/j.1365-2362.2006.01701.x 10.1111/j.1651-2227.2007.00216.x 10.1016/j.cgh.2007.08.012 10.1111/j.1365-2133.2007.08002.x 10.1111/j.1742-1241.2006.01061.x 10.1136/jmg.2004.025791 10.1002/jimd.12313 10.1080/08035250500275022 10.1136/jmg.2005.036327 10.1111/j.1399-0004.2009.01345.x 10.1016/j.ymgme.2016.05.009 10.1097/GIM.0b013e3181bb05bb 10.1186/s12947-019-0151-5 10.1007/8904_2012_165 10.1016/j.amjcard.2017.04.016 10.1136/jmedgenet-2014-102797 10.1016/j.ymgme.2016.06.007 10.1186/1750-1172-8-29 10.1186/1750-1172-8-47 10.1093/ndt/gfr420 10.1111/joim.12077 10.3310/hta16390 10.1111/j.1399-0004.2012.01947.x 10.1093/ndt/gfy357 10.1371/journal.pone.0233460 10.1371/journal.pone.0225071 10.1016/j.ymgmr.2022.100841
Orphanet Journal of Rare Diseases; Beck M, Ramaswami U et. al.
Jun 21st, 2022 - Patient registries provide long-term, real-world evidence that aids the understanding of the natural history and progression of disease, and the effects of treatment on large patient populations with rare diseases. The year 2021 marks the 20th ann...
https://doi.org/10.1016/j.semnephrol.2022.04.002
Seminars in Nephrology; Quinlan C, Rheault MN
Jun 20th, 2022 - A number of genes that cause inherited kidney disorders reside on the X chromosome. Given that males have only a single active X chromosome, these disorders clinically manifest primarily in men and boys. However, phenotypes in female carriers of X...
Guidelines 1 results
https://doi.org/10.1007/s10897-013-9613-3
Journal of Genetic Counseling; Laney DA, Bennett RL et. al.
Jul 19th, 2013 - Identification and comprehensive care of individuals who have Fabry disease (FD) requires a multidisciplinary approach inclusive of genetic testing, test interpretation, genetic counseling, long term disease symptom monitoring, treatment recommend...
Drugs 4 results see all →
Clinicaltrials.gov 173 results
https://clinicaltrials.gov/ct2/show/NCT00196742
Jun 23rd, 2022 - The Fabry Registry is an ongoing, international multi-center, strictly observational program that tracks the routine clinical outcomes for patients with Fabry disease, irrespective of treatment status. No experimental intervention is involved; pat...
https://clinicaltrials.gov/ct2/show/NCT05280548
Jun 16th, 2022 - Randomized period: the total duration will be up to approximately of 20 months (1 month screening 18 months of treatment and a possible follow-up period of 1 month if no participation in the open label extension period) Open-label extension period...
https://clinicaltrials.gov/ct2/show/NCT05206773
Jun 15th, 2022 - Double blind period: the total duration will be up to approximately of 14 months (1 month of screening 12 month of treatment period, and a possible follow-up period of 1 month if no participation in the open label extension period) Open-label exte...
https://clinicaltrials.gov/ct2/show/NCT05413876
Jun 10th, 2022 - Background: Fabry disease (FD) is an inherited, highly variable and slowly progressive X linked disorder, which predominantly affects vascular endothelium, the heart, kidneys and the brain. Exercise intolerance is a complaint expressed by the majo...
https://clinicaltrials.gov/ct2/show/NCT05409846
Jun 8th, 2022 - In Portugal, the prevalence of Fabry disease is largely unknown as recently has been stressed by the Portuguese hypertrophic cardiomyopathy registry investigators. On the other hand, few data on Fabry screening protocols in patients with compromis...
News 35 results
https://www.mdedge.com/familymedicine/article/248261/dermatology/enlarging-purple-plaque-leg
MDedge Family Medicine;
Nov 4th, 2021 - Clinical and dermoscopic features were consistent with a sporadic angiokeratoma, a benign ectasia of vessels associated with keratinization. Diagnosis was confirmed with shave biopsy.
https://reference.medscape.com/viewarticle/948074
Apr 2nd, 2021 - Fabry disease is an X-linked lysosomal disorder which results in excessive deposition of neutral glycosphingolipids in the vascular endothelium of multiple organs as well as in epithelial and smooth muscle cells. The progressive endothelial accumu...
https://www.onclive.com/view/lysosomal-storage-disorders-marking-milestones-and-moving-forward
Dec 20th, 2020 - Richard Moscicki, MD The 12th International Congress of Human Genetics attracted approximately 7500 people this year, including scientists, clinicians, and industry representatives, a turnout that organizers said constituted the largest-ever gat...
https://www.onclive.com/view/same-mission-new-role-for-genzyme-executive-head-of-rare-diseases-committed-to-patients
Dec 20th, 2020 - Rogério Vivaldi, MD Rogério Vivaldi, MD, has vivid memories of the first patient with Gaucher disease ever treated in Brazil with enzyme replacement therapy (ERT ). The patient was a shy 14-year-old boy struggling to play soccer, even though he ...
https://reference.medscape.com/viewarticle/907436_4
Jan 15th, 2019 - Other Neurology Drug Approvals Onpattro (patisiran) Patisiran is indicated for adults with hereditary transthyretin-mediated amyloidosis with polyneuropathy (hATTR-PN). The drug contains a double-stranded, small-interfering ribonucleic acid (siRNA...
