А rare case of alcohol septal ablation and cardioverter-defibrillator implantation in patient with Anderson-Fabry disease [PDF]
Българска кардиологияAnderson-Fabry disease is a hereditary, X-linked disorder with multiorgan impairment. The debut of the disease is usually in childhood, the clinical course and the prognosis are determined by the degree of the heart, kidney and brain ...
M. Dimova +4 more
doaj +3 more sources
Phenotypic characteristics of the p.Asn215Ser (p.N215S) GLA mutation in male and female patients with Fabry disease: A multicenter Fabry Registry study. [PDF]
, 2018 BackgroundThe p.Asn215Ser or p.N215S GLA variant has been associated with late-onset cardiac variant of Fabry disease.MethodsTo expand on the scarce phenotype data, we analyzed natural history data from 125 p.N215S patients (66 females, 59 males ...
Brand, Eva +15 more
core +1 more source
An open-label clinical trial of agalsidase alfa enzyme replacement therapy in children with Fabry disease who are naïve to enzyme replacement therapy. [PDF]
, 2016 BackgroundFollowing a drug manufacturing process change, safety/efficacy of agalsidase alfa were evaluated in enzyme replacement therapy (ERT)-naïve children with Fabry disease.MethodsIn an open-label, multicenter, Phase II study (HGT-REP-084; Shire), 14
Chang, Peter +7 more
core +2 more sources
Neurological complications of Anderson-Fabry disease [PDF]
, 2013 Characteristic clinical manifestations of AFD such as acroparesthesias, angiokeratoma, corneal opacity, hypo/ and anhidrosis, gastrointestinal symptoms, renal and cardiac dysfunctions can occur in male and female patients, although heterozygous females ...
Arnao, Valentina +6 more
core +1 more source
ANDERSON-FABRY DISEASE: MANIFESTATION AND PROGNOSIS
Український Журнал Нефрології та Діалізу, 2017 The aim of the study was to describe diagnostic and treatment experience of Fabry disease in Ukraine, rare inherited multisystem metaboliс disorder with chronic kidney insufficiency as one of signs.
N. O. Pichkur
doaj +1 more source
The Continuous Challenge of Diagnosing patients with Fabry disease in Argentina : Genotype, Experiences, Anecdotes, and New Learnings [PDF]
, 2015 The lysosomal storage disorder Fabry disease (FD) is caused by pathogenic mutations in the α-galactosidase A gene, localized in X chromosome. Deficient enzymatic activity of the product of this gene, the lysosomal hydrolase α-galactosidase A, leads to ...
Ceci, Romina +3 more
core +5 more sources
Cardiovascular magnetic resonance demonstration of the spectrum of morphological phenotypes and patterns of myocardial scarring in Anderson-Fabry disease [PDF]
, 2016 published_or_final_versio
Crean, A +8 more
core +3 more sources
Characterization of early disease status in treatment-naive male paediatric patients with Fabry disease enrolled in a randomized clinical trial. [PDF]
, 2015 Trial designThis analysis characterizes the degree of early organ involvement in a cohort of oligo-symptomatic untreated young patients with Fabry disease enrolled in an ongoing randomized, open-label, parallel-group, phase 3B clinical trial.MethodsMales
An Haack, Kristina +17 more
core +3 more sources
Time of Anderson-Fabry Disease Detection and Cardiovascular Presentation
Case Reports in Cardiology, 2018 Background. Anderson-Fabry disease is an X-linked inherited disease, which manifests in a different manner depending on gender and genotype. Making a working diagnosis of Anderson-Fabry disease is difficult because of several reasons: (a) that it is a ...
K. Selthofer-Relatic
doaj +1 more source
Lentivector Transduction Improves Outcomes Over Transplantation of Human HSCs Alone in NOD/SCID/Fabry Mice [PDF]
, 2012 Fabry disease is a lysosomal storage disorder caused by a deficiency of a-galactosidase A (a-gal A) activity that results in progressive globotriaosylceramide (Gb(3)) deposition.
Au, Bryan C. Y. +7 more
core +1 more source