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About 2,298 results

ALLMedicine™ Fabry Disease Center

Research & Reviews  830 results

Management of a Thrombus in a Dolichoectatic Basilar Artery Secondary to Fabry Disease.
https://doi.org/10.1017/cjn.2021.250
The Canadian Journal of Neurological Sciences. Le Journal... Mak G, Philip AP et. al.

Nov 27th, 2021 - Management of a Thrombus in a Dolichoectatic Basilar Artery Secondary to Fabry Disease.|2021|Mak G,Philip AP,Perera K,|

Danon Disease
http://emedicine.medscape.com/article/952782-overview

Nov 24th, 2021 - Practice Essentials Hypertrophic cardiomyopathy (HCM) is a well-recognized cardiac muscle disorder that has been known by various names, including idiopathic hypertrophic subaortic stenosis (IHSS). On echocardiography, the characteristic appearanc...

Danon Disease
https://emedicine.medscape.com/article/952782-overview

Nov 24th, 2021 - Practice Essentials Hypertrophic cardiomyopathy (HCM) is a well-recognized cardiac muscle disorder that has been known by various names, including idiopathic hypertrophic subaortic stenosis (IHSS). On echocardiography, the characteristic appearanc...

Danon Disease
https://emedicine.medscape.com/article/952782-print

Nov 24th, 2021 - Practice Essentials Hypertrophic cardiomyopathy (HCM) is a well-recognized cardiac muscle disorder that has been known by various names, including idiopathic hypertrophic subaortic stenosis (IHSS). On echocardiography, the characteristic appearanc...

Autopsy Findings of Heterozygous Fabry Disease with the Severe Phenotype: A Case Report.
https://doi.org/10.1159/000520145
Nephron Hiratsuka M, Koyama K et. al.

Nov 23rd, 2021 - Fabry disease (FD) is an inherited X-linked lysosomal storage disorder, with hemizygous males being more severely affected than heterozygous females. Herein, we report a rare case of FD in a heterozygous female with a severe phenotype. The patient...

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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  50 results

Fabry Outcome Survey (FOS)
https://clinicaltrials.gov/ct2/show/NCT03289065

Nov 16th, 2021 - The purpose of this study is to collect data that will increase understanding of Fabry disease history and progression, in treated and untreated patients with Fabry disease. The data from FOS may provide guidance to healthcare professionals about ...

Studying Lipids as Potential Biomarkers in Patients With Fabry Disease
https://clinicaltrials.gov/ct2/show/NCT05046379

Oct 22nd, 2021 - The hypothesis is that Sphingosine-1 Phosphate (S1P) or any other related sphingoid bases and/or other lipid class could be a marker of the severity of cardiovascular remodelling in Fabry disease. The overall approach is, by minimising possible pr...

Characterisation of Heart Involvement in Fabry Disease With T1 Mapping
https://clinicaltrials.gov/ct2/show/NCT04708301

Oct 20th, 2021 - Anderson-Fabry disease (Fabry disease) is a genetic lysosomal storage disorder. Lysosomes are structures found within cells that contain enzymes which break down waste products and foreign material. In Fabry disease there is an inborn deficiency o...

Impact of MIgalastat TheRApy on CaRdiac Function in patiEnts With Fabry's Cardiomyopathy (MIRACRE-Fabry Trial)
https://clinicaltrials.gov/ct2/show/NCT04639999

Oct 14th, 2021 - Objectives - to evaluate the impact of chaperone therapy on LV diastolic function and flow in patients with Fabry's cardiomyopathy using LV 2D strain, diastolic stress echocardiography, LV vortex flow and CMR. Primary/Secondary Endpoint A. Primary...

A Study of Replagal in Children and Adults With Fabry Disease in India
https://clinicaltrials.gov/ct2/show/NCT05067868

Oct 14th, 2021 - The main aim of this study is to learn more about the safety profile of Replagal. Participants will receive Replagal every 2 weeks at the clinic for about 1 year.

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News  34 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...

Tool Maps a Rare Disease
https://www.onclive.com/view/tool-maps-a-rare-disease

Dec 5th, 2020 - A new tool for mapping disease severity and outcomes in patients with Gaucher disease (GD) may help physicians develop a standardized approach to treatment that emphasizes published therapeutic goals, according to a presentation at the 7th Annual ...

FDA Approves Genzyme's Fabrazyme Plant
https://www.onclive.com/view/fda-approves-genzymes-fabrazyme-plant

Dec 4th, 2020 - Genzyme Corporation said Tuesday that the FDA has approved its new manufacturing plant in Framingham, Massachusetts, enabling the company to expand its production of Fabrazyme (agalsidase beta) for patients with Fabry disease. Last week, the Europ...

Idorsia's Clozel says recruitment delay won't dent Fabry drug prospects
https://www.reuters.com/article/us-idorsia-results/idorsias-clozel-says-recruitment-delay-wont-dent-fabry-drug-prospects-idUSKBN1X11M7

Oct 22nd, 2019 - ZURICH (Reuters) - Fledgling Swiss biotech Idorsia has suffered delays in recruiting patients for a key trial of its experimental lucerastat drug but that will not damage its commercial prospects, founder Jean-Paul Clozel told Reuters on Tuesday. ...

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...

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