Results 41 to 50 of about 10,310 (200)

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

Background-deflection Brillouin microscopy reveals altered biomechanics of intracellular stress granules by ALS protein FUS [PDF]

, 2018
Altered cellular biomechanics have been implicated as key photogenic triggers in age-related diseases. An aberrant liquid-to-solid phase transition, observed in in vitro reconstituted droplets of FUS protein, has been recently proposed as a possible ...
Antonacci, Giuseppe, DE TURRIS, Valeria, Rosa, Alessandro, Ruocco, Giancarlo   +3 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

Cardiac damage in Anderson–Fabry disease (clinical case)

Клинический разбор в общей медицине
The fact that Anderson–Fabry disease is rarely found in clinical practice results in low physicians’ awareness of this disorder, leads to the delayed diagnosis and treatment.
Olga V. Dimitrieva, Olga V. Dimitrieva, Izolda V. Karzakova, Vadim E. Babokin, Vadim E. Babokin, Vadim E. Babokin, Larisa V. Tarasova, Larisa V. Tarasova, Larisa V. Tarasova, Aleksandra V. Dubova, Aleksandra V. Dubova   +10 more
doaj   +1 more source

Fabry-betegség – terápiás útmutató [PDF]

, 2010
A Fabry-kór a lizoszomális tárolási betegségek csoportjába tartozó, X-kromoszómához kötötten, recesszív módon öröklődő betegség, amely a globotriaozilceramid felhalmozódásához vezet a szervezet legkülönbözőbb szöveteiben.
Ambrus, Csaba, Bereczki, Dániel, Bokrétás G, Constantin, Tamás, Dajnoki A, Erdős, Melinda, Fekete, György, Fiedler O, Garami, Miklós, Gulácsy V, Katona M, Kertész, Attila Béla, Kádár K, Kárpáti, Sarolta, Magyar, Pál, Mahdi, Mohamed, Maródi L, Medvecz, Márta, Molnár S, Müller, Veronika, Nagy V, Németh, Krisztina, Ponyi, Andrea, Rudas, Gábor, Rákóczi, Éva, Széchey R, Székely A, Tóth B, Varga, Edit, Vastagh, Ildikó   +29 more
core   +2 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

La diagnosi precoce di malattia

Giornale di Clinica Nefrologia e Dialisi, 2019
Anderson-Fabry disease is an X-linked, lysosomal, storage disorder characterized by the decreased activity of alpha-Galactosidase A, which results in accumulation of globotriaosylceramide (Gb-3) in cells and tissues throughout the body, leading to a wide
Federica Rossi, Federico Pieruzzi
doaj   +1 more source

Vesivirus 2117 capsids more closely resemble sapovirus and lagovirus particles than other known vesivirus structures [PDF]

, 2017
Vesivirus 2117 is an adventitious agent that in 2009, was identified as a contaminant of CHO cells propagated in bioreactors at a pharmaceutical manufacturing plant belonging to Genzyme.
Bhella, David, Carneiro, Daniel G., Conley, Michaela, Emmott, Edward, Goodfellow, Ian G., Hansman, Grant S., Murata, Kazuyoshi, Orton, Richard, Taylor, David   +8 more
core   +1 more source

Anderson-Fabry disease in heart failure [PDF]

Biophysical Reviews, 2018
Anderson-Fabry disease is an X-linked lysosomal storage disorder caused by mutations in the GLA gene that result in deficiency of the enzyme alpha-galactosidase A. The worldwide incidence of Fabry's disease is reported to be in the range of 1 in 40,000-117,000, although this value may be a significant underestimate given under recognition of symptoms ...
M. M. Akhtar, P. M. Elliott
openaire   +3 more sources

Delphi consensus on the current clinical and therapeutic knowledge on Anderson-Fabry disease [PDF]

, 2014
BACKGROUND: Management of Anderson-Fabry disease (AFD) is contentious, particularly regarding enzyme replacement therapy (ERT). We report results of a Delphi consensus panel on AFD management.
Antuzzi, D., Bembi, B., Benso, A., Carraro, G., Chimenti, C., Colla, L., Concolino, D., Cuonzo, M. T., Degennaro, E., Del Rosso, G., Diomedi, M., Feliciani, C., Feriozzi, S., Ficcadenti, A., Frustaci, A., Gnarra, M., Maccarone, M., Mancuso, M., Matucci, A., Mignani, R., Musumeci, B., Nencini, P., Parini, R., Piga, S., Pisani, A., Re, F., Salviati, A., Spada, M., Vultaggio, A., Zachara, E., Zedde, M. L., Zoli, P. G.   +31 more
core   +1 more source