Results 31 to 40 of about 10,271 (151)

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, Burlina, Alessandro, Cecchi, Franco, Garman, Scott C, Germain, Dominique P, Jovanovic, Ana, Kempf, Judy, Laney, Dawn A, Linhart, Aleš, Maródi, László, Nicholls, Kathy, Ortiz, Alberto, Pieruzzi, Federico, Shankar, Suma P, Waldek, Stephen, Wanner, Christoph   +15 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, Kisinovsky, Isaac, Roa, Norma, Rozenfeld, Paula Adriana   +3 more
core   +5 more sources

Non-compaction cardiomyopathy – brief review [PDF]

, 2017
Left ventricular non-compaction cardiomyopathy is a genetic disorder characterized by the presence of two myocardial layers with numerous prominent trabeculations and deep inter-trabecular recesses that communicate with the ventricular cavity.
Berceanu, Mihaela, Constantin, Anca, Donoiu, Ionuț, Istrătoaie, Octavian, Militaru, Constantin, Mirea, Oana, Mănescu, Mirela, Târtea, Georgică Costinel   +7 more
core   +3 more sources

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., Fan, Xin, Medin, Jeffrey A, Mizue, Nobuo, Pacienza, Natalia Alejandra, Takenaka, Toshihiro, Wang, James C. M., Yoshimitsu, Makoto   +7 more
core   +1 more source

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

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, Goker-Alpan, Ozlem, Longo, Nicola, McDonald, Marie, Pano, Arian, Schiffmann, Raphael, Shankar, Suma P, Shen, Yinghua   +7 more
core   +2 more sources

Fabry-betegség - Diagnosztikai útmutató [PDF]

, 2010
A Fabry-kór a lizoszomális tárolási betegségek csoportjába tartozó, X-kromoszómához kötötten, recesszív módon öröklődő betegség, amely a globotriaosylceramid felhalmozódásához vezet a szervezet legkülönbözőbb szöveteiben.
Ambrus, Csaba, Bereczki, Dániel, Bokrétás G, Constantin, Tamás, Dajnoki A, Erdős, Melinda, Fekete, György, Fiedler O, Garami, Miklós, Katona M, Kertész, Attila Béla, Kádár K, Kárpáti, Sarolta, Magyar, Pál, Mahdi, Mohamed, Maródi, László, Medvecz, Márta, Molnár, Sándor, Müller, Veronika, Nagy, Viktor, Németh K, Ponyi, Andrea, Rudas, Gábor, Rákóczi, Éva, Széchey R, Tóth, Beáta, Varga, Edit, Vastagh, Ildikó   +27 more
core   +2 more sources

Fabry in the older patient: Clinical consequences and possibilities for treatment. [PDF]

, 2016
Baseline demographic and phenotypic characteristics of patients aged ≥50years in the Fabry Outcome Survey (Shire; data extracted June 2014) were compared with younger adults to investigate potential factors influencing treatment decisions in later life ...
Barbey, F, Bizjajeva, S, Brand, E, Hughes, DA, Lidove, O, Nicholls, K, Niu, DM   +6 more
core   +2 more sources

NEUROLOGICAL MANIFESTATIONS OF FABRY DISEASE IN CHILDREN AND ADOLESCENTS

Русский журнал детской неврологии, 2017
Fabry disease (Anderson–Fabry disease) is an X-linked recessive lysosomal storage disorder resulting from deficient activity of lysosomal hydrolase, alpha-galactosidase A, which leads to progressive accumulation of globotriaosylceramide (Gb3) in various ...
A. S. Kotov, K. V. Firsov
doaj   +1 more source