Results 31 to 40 of about 31,122 (181)

Correlación de la inactivación del cromosoma X con la presentación clínica de la enfermedad de Fabry a propósito de un caso

Nefrología, 2023
Resumen: La enfermedad de Fabry o también llamada de Anderson-Fabry (EF) es una enfermedad rara, causada por variantes patogénicas en el gen GLA, localizado en el cromosoma X.
Pablo Rodríguez Doyágüez, Mónica Furlano, Elisabet Ars Criach, Yolanda Arce, Lluís Guirado, Roser Torra Balcells   +5 more
doaj   +1 more source

Correlation of X chromosome inactivation with clinical presentation of Fabry disease in a case report

Nefrología (English Edition), 2023
Fabry disease or also called Anderson-Fabry disease (FD) is a rare disease caused by pathogenic variants in the GLA gene, located on the X chromosome.
Pablo Rodríguez Doyágüez, Mónica Furlano, Elisabet Ars Criach, Yolanda Arce, Lluís Guirado, Roser Torra Balcells   +5 more
doaj   +1 more source

Corrigendum: Case report: De novo mutation of a-galactosidase A in a female patient with end-stage renal disease: report of a case of late diagnosis of Anderson–Fabry disease [PDF]

Frontiers in Genetics
Irene Simonetta, Renata Riolo, Federica Todaro, Vincenzo Donadio, Alex Incensi, Salvatore Miceli, Paolo Colomba, Giovanni Duro, Antonino Tuttolomondo   +8 more
doaj   +2 more sources

Exosomal miRNAs as Biomarkers of Ischemic Stroke

Brain Sciences, 2023
Exosomes are small lipid bilayer membrane particles released from all living cells into the extracellular environment. They carry several molecules and have a critical role in cell–cell communication under physiological and pathological conditions.
Anna Maria Ciaccio, Antonino Tuttolomondo   +1 more
doaj   +1 more source

Fabry disease presenting as apical left ventricular hypertrophy in a patient carrying the missense mutation R118C

Revista Portuguesa de Cardiologia, 2014
Anderson-Fabry disease is an X-linked lysosomal storage disorder caused by abnormalities of the GLA gene, which encodes the enzyme α-galactosidase A. A deficiency of this enzyme leads to the lysosomal accumulation of glycosphingolipids, which may cause ...
Francisca Caetano, Ana Botelho, Paula Mota, Joana Silva, António Leitão Marques   +4 more
doaj   +1 more source

Anderson-Fabry Disease [PDF]

Journal of the American Society of Nephrology, 2002
The advent of enzyme replacement therapy for Anderson-Fabry disease (AFD) adds impetus for the early detection of patients with this inherited multiorgan lipid storage disease. The resultant accumulation of neutral glycosphingolipids, especially globotriaosylceramide (Gb3), in various cell ...
Edwin H, Kolodny, Gregory M, Pastores
openaire   +2 more sources

A Distinct Urinary Biomarker Pattern Characteristic of Female Fabry Patients That Mirrors Response to Enzyme Replacement Therapy [PDF]

, 2011
Female patients affected by Fabry disease, an X-linked lysosomal storage disorder, exhibit a wide spectrum of symptoms, which renders diagnosis, and treatment decisions challenging.
Breunig Frank, Wanner, Christoph, Hughes, D A, Warnock, D G, Derralynn A Hughes, Mullen, William, Andreas D. Kistler, Andreas D Kistler, Kistler Andreas D., Jeevaratnam, P, Serra, AL, Siwy, Justyna, Frank, Breunig, Derralynn A. Hughes, Scherl, A, Alexander Scherl, Mischak Harald, Mischak, H., Wüthrich, Rudolf P., Andreas L Serra, Jeevaratnam Praveen, Warnock, D.G., Kistler, A D, Jeevaratnam, P., Rudolf P. Wüthrich, Warnock, DG, Wüthrich Rudolf P., Wanner Christoph, Frank Breunig, Praveen Jeevaratnam, Justyna Siwy, Wüthrich, R P, Serra, A L, Serra Andreas L., Mischak, Harald, Hughes, DA, David G. Warnock, Breunig, F, Serra, Andreas L., Serra, A.L., Christoph Wanner, Jeevaratnam, Praveen, William Mullen, Kistler, AD, Scherl, A., Siwy, J., Hughes Derralynn A., Wanner, C., Mischak, H, Siwy Justyna, Warnock, David G., Andreas L. Serra, Scherl, Alexander, Wanner, C, Wüthrich, R.P., Kistler, Andreas D., Mullen, W., Breunig, F., Siwy, J, Hughes, Derralynn A., Wuthrich, RP, Mullen William, Kistler, A.D., Harald Mischak, Hughes, D.A., Scherl Alexander, David G Warnock, Rudolf P Wüthrich, Warnock David G., Mullen, W   +69 more
core   +1 more source

Cardiac Anderson-Fabry disease: Lessons from a 25-year-follow up

Revista Portuguesa de Cardiologia, 2014
Sarcomeric hypertrophic cardiomyopathy (HCM) is the most common genetic cause of unexplained left ventricular hypertrophy and has no specific treatment. Anderson-Fabry disease (AFD) is rare and usually multisystemic, but occasionally expresses clinically
Dulce Brito, Gabriel Miltenberger–Miltenyi, Oana Moldovan, Carmen Navarro, Hugo Costa Madeira   +4 more
doaj   +1 more source

Overcoming Resistance in Anderson-Fabry Disease: Current Therapeutic Challenges and Future Perspectives. [PDF]

J Clin Med
Anderson–Fabry disease (AFD) remains a therapeutic challenge despite advances in early diagnosis and the availability of enzyme replacement therapies (ERTs).
Carella MC, Forleo C, Caretto P, Naccarati ML, Dentamaro I, Dicorato MM, Basile P, Carulli E, Latorre MD, Baggiano A, Pontone G, Ciccone MM, Guaricci AI.   +12 more
europepmc   +3 more sources

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