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About 2,418 results

ALLMedicine™ Fabry Disease Center

Research & Reviews  879 results

Reduced hip bone mineral density is associated with high levels of calciprotein particl...
https://doi.org/10.1007/s00198-022-06420-z 10.1016/j.ymgme.2013.02.003 10.1016/j.cjca.2015.10.033 10.1007/8904_2014_371 10.3109/03009740903270631 10.1111/j.1399-0004.2005.00457.x 10.1007/8904_2014_328 10.1016/j.jbspin.2015.11.001 10.1111/j.1399-0004.2008.00978.x 10.1074/jbc.M210868200 10.1074/jbc.M709938200 10.1007/s00223-017-0313-0 10.1016/j.molmed.2009.07.001 10.1007/s00198-008-0648-5 10.1074/jbc.M106366200 10.1359/jbmr.2002.17.7.1171 10.1093/ndt/gfz234 10.1093/ndt/gfr609 10.1016/j.pharmthera.2019.107436 10.1002/jbm4.10497 10.1155/2018/5282389 10.1016/j.ymgme.2017.09.004 10.1111/nep.12021 10.1136/heartjnl-2014-306278 10.1016/j.echo.2005.10.005 10.1681/Asn.2012030240 10.1007/s00198-013-2413-7 10.1002/jbmr.5650090802 10.1038/s41598-017-05474-y 10.1016/j.ekir.2020.06.014 10.1016/j.ymgme.2014.11.005 10.1016/j.kint.2019.10.019 10.1016/j.kint.2019.12.018 10.1159/000489672 10.1016/j.ymgmr.2019.100529 10.1161/01.CIR.0000061952.27445.A0 10.1111/joim.12077 10.1097/MD.0000000000004810 10.1097/gim.0b013e31815cb197 10.1016/j.atherosclerosis.2016.05.044 10.1136/bmjopen-2018-026876 10.1016/j.afos.2017.02.001 10.1046/j.1523-1755.2002.00097.x 10.1007/BF01540061 10.1177/1756283X16642936 10.1111/nep.12994 10.1016/j.ymgme.2018.11.005 10.1161/jaha.117.007124 10.1177/0003319720981521
Osteoporosis International : a Journal Established as Res... Bruell S, Nicholls KM et. al.

May 17th, 2022 - Calciprotein particles (CPP) are nanoscale mineralo-protein aggregates that help stabilize excess mineral in the circulation. We examined the relationship between CPP and bone mineral density in Fabry disease patients. We found an inverse correlat...

The prevalence of Fabry disease among 1009 unrelated patients with hypertrophic cardiom...
https://doi.org/10.1186/s13023-022-02319-4 10.21542/gcsp.2018.36 10.1038/gim.2014.205 10.1056/NEJMoa033349 10.1111/cge.13694 10.1186/s13023-019-1291-2 10.1186/s13023-015-0253-6 10.21037/cdt.2020.01.12 10.1056/NEJM196705252762101 10.1093/qjmed/hct024 10.1161/01.CIR.0000139847.74101.03 10.1136/jmedgenet-2017-105080 10.3390/ijms19123726 10.1007/BF01606034 10.1136/heartjnl-2011-300364 10.6002/ect.2019.0279 10.7150/ijms.14997 10.1136/hrt.2010.200188 10.3389/fneur.2018.00336 10.1093/eurjhf/hfq073 10.1186/1750-1172-9-96 10.1186/s13023-017-0722-1 10.1016/j.ijcard.2008.03.007 10.3346/jkms.2019.34.e63 10.15690/vsp.v14i3.1369 10.1186/s13023-016-0441-z 10.1161/CIRCGENETICS.109.862920 10.1093/eurheartj/ehm153 10.1093/ndt/gfg194 10.1371/journal.pgen.1003632 10.1161/CIRCRESAHA.117.311059 10.1038/gim.2018.31 10.1161/JAHA.119.015473 10.1159/000495886 10.1007/s00431-017-2992-y 10.1161/CIRCGENETICS.113.000249 10.1186/s12881-016-0309-z 10.1002/prot.24708 10.1093/europace/euv079 10.1161/01.CIR.0000012626.81324.38 10.1371/journal.pone.0239675 10.1016/j.nmd.2013.11.006 10.15690/vramn872 10.1038/gim.2017.175 10.1136/jmedgenet-2014-102872 10.1086/504601 10.4330/wjc.v2.i9.289 10.1136/jmedgenet-2013-101857 10.1136/heartjnl-2019-315933 10.1016/j.amjms.2021.01.009 10.2169/internalmedicine.0959-18 10.1016/j.cjca.2017.04.015
Orphanet Journal of Rare Diseases; Savostyanov K, Pushkov A et. al.

May 17th, 2022 - There is a vast number of screening studies described in the literature from the beginning of the twenty-first century to the present day. Many of these studies are related to the estimation of Fabry disease (FD) morbidity among patients from high...

Early renal failure in childhood in a male with Fabry disease.
https://doi.org/10.1136/bcr-2021-246682
BMJ Case Reports; Hogh JN, Ebrahim H et. al.

May 11th, 2022 - Fabry disease is an X-linked lysosomal storage disorder caused by reduced activity or absence of the alpha-galactosidase A enzyme resulting in systemic accumulation of glycosphingolipids. End-stage renal disease (ESRD) is a late-stage manifestatio...

Rare Diseases in Glycosphingolipid Metabolism.
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10.1073/pnas.96.11.6388 10.1172/JCI2127 10.1093/hmg/11.11.1343 10.3390/ijms21176213 10.2174/1566523218666180404162622 10.1523/JNEUROSCI.0822-13.2013 10.3390/ijms21072566 10.1002/0471142905.hg1716s83 10.1016/j.gene.2012.06.080 10.1002/jgm.3205 10.1016/S2352-4642(17)30087-1 10.1074/jbc.M609304200 10.1021/jm101443u 10.1016/j.ymgme.2010.09.004 10.1186/s13023-015-0260-7 10.1007/s11064-013-0992-5 10.1016/j.omtm.2018.10.011 10.1038/s41434-019-0120-5 10.1016/j.pharmthera.2009.01.003 10.1007/BF01986897 10.1111/j.1365-2133.1898.tb16317.x 10.3390/medicina55050122 10.1111/cge.12449 10.1001/jama.281.3.249 10.1016/j.jpeds.2014.09.023 10.1007/s00431-017-2950-8 10.3390/ijns5020024 10.1161/CIRCGENETICS.109.862920 10.1016/j.bbagen.2019.129437 10.1038/s41572-018-0025-4 10.7326/0003-4819-146-6-200703200-00007 10.1016/j.ijcard.2014.09.001 10.1186/s13023-015-0253-6 10.1016/j.cca.2017.01.014 10.1136/postgradmedj-2018-136056 10.3390/ijms21218080 10.1136/jmg.38.11.769 10.2147/TCRM.S247814 10.1056/NEJM200107053450102 10.1681/ASN.2014121226 10.1111/j.1365-2249.2004.02567.x 10.1016/j.clim.2017.01.014 10.3390/biom11020271 10.1002/jimd.12228 10.1002/cpdd.865 10.1186/s13023-017-0565-9 10.2119/molmed.2015.00088 10.1007/s40259-013-0032-7 10.1021/acsami.0c16871 10.1016/S0140-6736(08)61522-6 10.1038/nchembio850 10.3390/ijms18020441 10.1056/NEJMoa033277 10.1016/j.bcmd.2005.07.005 10.1016/j.ymgme.2021.01.002 10.1146/annurev.bi.60.070191.001353 10.1001/archinte.160.18.2835 10.1182/blood-2003-05-1612 10.1172/JCI117084 10.1182/blood-2011-05-352971 10.1016/j.bcmd.2012.04.002 10.1185/030079906X104623 10.1016/j.ymgme.2004.08.015 10.1186/1750-1172-7-77 10.5041/RMMJ.10173 10.1002/jbmr.5650111125 10.1259/bjr.75.suppl_1.750002 10.1016/S1096-7192(02)00122-1 10.1001/archpedi.160.6.603 10.1016/j.bcmd.2010.08.012 10.1016/j.braindev.2005.04.005 10.1002/ajmg.a.20117 10.3390/diseases5010010 10.1080/17446651.2018.1445524 10.1016/j.braindev.2010.02.005 10.1034/j.1399-0004.2001.590511.x 10.1182/blood-2011-04-308890 10.1056/NEJM199105233242104 10.1002/ana.21491 10.1016/S0140-6736(14)61841-9 10.1182/blood-2017-02-769034 10.3389/fcell.2020.00271 10.1038/s41582-018-0053-4 10.1038/bmt.2008.275 10.1002/humu.22919 10.1186/s13023-019-1220-4 10.1007/BF00711364 10.1042/EBC20190090 10.1023/A:1005471106088 10.1111/j.1432-1033.1990.tb19167.x 10.1186/s13023-019-1113-6 10.1016/j.ymgme.2005.07.010 10.1055/s-0030-1253412 10.1111/j.1469-8749.2011.04028.x 10.1186/s13023-019-1060-2 10.1007/s00401-017-1739-1 10.1159/000112162 10.1001/archneur.1995.00540280098023 10.1212/WNL.0000000000002811 10.1155/2019/7235914 10.1016/j.clineuro.2020.106448 10.1080/14737175.2020.1699060 10.1016/j.jchromb.2019.05.035 10.1016/0009-8981(87)90068-4 10.1021/acs.analchem.9b05274 10.1194/jlr.M057232 10.1373/clinchem.2015.245159 10.1007/s002470050672 10.1136/jnnp.2005.075762 10.1212/WNL.0b013e3181feb217 10.3389/fmed.2020.576221 10.1017/S031716710004823X 10.1176/ajp.138.10.1372 10.1016/S0092-8674(03)00348-9 10.1002/acn3.50975 10.1016/S0140-6736(16)30374-9 10.1126/science.1233158 10.1097/00019052-200106000-00007 10.1016/j.bbmt.2013.01.010 10.1517/14712598.5.1.55 10.1002/jnr.23792 10.1097/WCO.0b013e328338313a 10.1007/s10545-017-0052-4 10.1016/j.ymgme.2011.10.002 10.1093/brain/awt232 10.1186/s13023-020-01489-3 10.3389/fneur.2020.00830 10.1111/ane.13153 10.1016/j.ymgme.2004.10.004 10.1007/8904_2018_114 10.1080/00207454.2020.1731504 10.5114/fn.2012.32364 10.1038/s41436-019-0480-7 10.1016/j.pediatrneurol.2008.11.010 10.1212/WNL.0000000000007943 10.3390/ijns6020029 10.1016/j.gene.2014.09.046 10.1186/s13023-018-0766-x 10.1111/dmcn.14258 10.1016/j.beem.2014.10.002 10.1093/ajcn/9.1.63 10.1016/j.cellsig.2009.01.026 10.1016/j.scr.2019.101461 10.1111/cge.12076 10.1016/j.ymgme.2016.12.008 10.1126/scitranslmed.aat3738 10.1016/j.ajhg.2012.05.001 10.1006/geno.1999.5940 10.1186/s13023-018-0845-z 10.1016/S0022-3476(76)80927-4 10.1111/j.1399-0004.1989.tb03364.x 10.1016/S0140-6736(79)92562-5 10.1016/0009-8981(95)06173-8 10.1016/0002-9343(69)90202-2 10.1093/clinchem/21.6.725 10.1016/j.bbadis.2016.11.031 10.1038/s41598-017-06604-2 10.1007/BF00694628 10.1007/BF01600282 10.1001/archopht.1985.01050010077025 10.1002/emmm.201202301 10.1007/BF00441558 10.1007/BF02024331 10.1093/hmg/10.9.927 10.1007/s10545-012-9573-z 10.1002/jimd.12043 10.1016/S0002-9343(02)01150-6 10.1016/j.bbacli.2017.02.001
Advances in Experimental Medicine and Biology; Zhou H, Wu Z et. al.

May 4th, 2022 - Sphingolipidoses is a cluster of genetic rare disorders regarding glycosphingolipid metabolism, classified as lysosomal storage disorders (LSD). Here, we focus on eight inheritable diseases, including GM1 gangliosidosis, GM2 gangliosidosis, Fabry ...

The prevalence of Fabry disease in a statewide chronic kidney disease cohort - Outcomes...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9066726
BMC Nephrology; Mallett A, Kearey PJ et. al.

May 4th, 2022 - Prevalence of Fabry disease amongst Chronic Kidney Disease (CKD) patients on haemodialysis has been shown to be approximately 0.2%. We undertook a cross-sectional study employing a cascade screening strategy for Fabry Disease amongst 3000 adult, m...

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Guidelines  1 results

Fabry disease practice guidelines: recommendations of the National Society of Genetic C...
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...

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Drugs  4 results see all →

Clinicaltrials.gov  51 results

Dose-Ranging Study of ST-920, an AAV2/6 Human Alpha Galactosidase A Gene Therapy in Subjects With Fabry Disease
https://clinicaltrials.gov/ct2/show/NCT04046224

Apr 19th, 2022 - This is the first in human treatment with ST-920, a recombinant AAV2/6 vector encoding the cDNA for human a-Gal A. The purpose of this study is to evaluate the safety and tolerability of ascending doses of ST-920. ST-920 aims to provide stable, lo...

Open-Label Expanded Access Treatment With Pegunigalsidase Alfa for Fabry Disease Patients
https://clinicaltrials.gov/ct2/show/NCT04552691

Mar 29th, 2022 - The objective of this treatment protocol is to provide guidance to Treating Physicians who seek access to pegunigalsidase alfa for Fabry patients whose clinical condition, in the opinion of the Treating Physician, requires treatment with enzyme re...

Understanding Fabry Disease Therapy Choices Through the Eyes of the Patients
https://clinicaltrials.gov/ct2/show/NCT04804566

Mar 11th, 2022 - This will be a cross-sectional study conducted in approximately 130 individuals (or representative parents/caregivers of patients) living with Fabry disease. All study participants will complete the RSVP followed by a structured interview conducte...

Safety, Pharmacodynamics, and Efficacy of Migalastat in Pediatric Subjects (Aged >12 Years) With Fabry Disease
https://clinicaltrials.gov/ct2/show/NCT04049760

Mar 11th, 2022 - This is a long-term, Open-label Study to Evaluate the Safety, Pharmacodynamics, and Efficacy of Migalastat in Subjects > 12 Years of Age With Fabry Disease and Amenable GLA Variants

Fabry Patient's Experience Of PegunigaLsidasE Alfa Monthly Infusion
https://clinicaltrials.gov/ct2/show/NCT05186324

Mar 9th, 2022 - This is an additional qualitative concept elicitation interview-based study to further understand the patients' experience with Fabry disease and with the pegunigalsidase alfa administered intravenously every 4 weeks. Patients will be asked a set ...

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News  32 results

Fast Five Quiz: Fabry Disease
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...

Lysosomal Storage Disorders: Marking Milestones and Moving Forward
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...

Same Mission, New Role for Genzyme Executive: Head of Rare Diseases Committed to Patients
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 ...

FDA Drug Approvals: Neurology — Year in Review 2018
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...

FDA Approved Record Number of Drugs in 2018
https://www.medscape.com/viewarticle/907364

Jan 8th, 2019 - 2018 was a banner year for the US Food and Drug Administration (FDA), with 59 new drugs approved by the Center for Drug Evaluation and Research (CDER), including 19 first-in-class agents, 34 novel drugs for rare diseases, and a record seven biosim...

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