Results 81 to 90 of about 9,399,207 (308)

The Prevalence of Fabry Disease in Patients with Chronic Kidney Disease in Turkey: The TURKFAB Study

Kidney & Blood Pressure Research, 2016
Background/Aims: Fabry disease is a treatable cause of chronic kidney disease (CKD) characterized by a genetic deficiency of α-galactosidase A. European Renal Best Practice (ERBP) recommends screening for Fabry disease in CKD patients.
Kultigin Turkmen, Aydın Guclu, Garip Sahin, Ismail Kocyigit, Levent Demirtas, Fatih Mehmet Erdur, Erkan Sengül, Oktay Ozkan, Habib Emre, Faruk Turgut, Hilmi Unal, Murat Karaman, Cengiz Acıkel, Hasan Esen, Ebru Balli, Gulfidan Bıtırgen, Halil Zeki Tonbul, Mahmut Ilker Yılmaz, Alberto Ortiz   +18 more
doaj   +1 more source

Ocular signs correlate well with disease severity and genotype in Fabry disease. [PDF]

PLoS ONE, 2015
Ocular signs in Fabry disease have generally been regarded to be primarily of diagnostic value. We explored whether ocular findings, alone or in particular in combination with the α-galactosidase A gene mutation, have predictive value for disease ...
Susanne Pitz, Gisela Kalkum, Laila Arash, Nesrin Karabul, Andrea Sodi, Sylvain Larroque, Michael Beck, Andreas Gal   +7 more
doaj   +1 more source

Clinical and Pathological Findings in Women with Fabry Disease [PDF]

, 2009
Introduction. Fabry disease is a rare metabolic disorder caused by the genetic deficiency of the lysosomal hydrolase alpha-galactosidase A, located on chromosome X.
Chan, KH, Chu, ACY, Ho, JWM, Ho, PWL, Ho, SL, Kung, MHW, Kwok, KHH, Liu, HF, Ramsden, David   +8 more
core   +1 more source

Diagnosis and Screening of Patients with Fabry Disease

Therapeutics and Clinical Risk Management, 2020
Fabry disease (FD) is an X-linked lysosomal storage disorder caused by absence or deficient activity of α-galactosidase A (α-Gal A) due to mutations in the α-galactosidase A gene (GLA), leading to progressive accumulation of globotriaosylceramide (Gb3 ...
I. Vardarli, C. Rischpler, K. Herrmann, F. Weidemann   +3 more
semanticscholar   +1 more source

Chemical engineering as an essential element of industrial biotechnology in Mexico: New aims in research and university education

The Canadian Journal of Chemical Engineering, EarlyView.
Abstract On the centennial of higher education in Chemical Engineering in Mexico, it is pertinent to revisit the key stages that have contributed to its consolidation as a vital discipline for the nation's scientific and technological advancement. Although the initial mission of chemical engineering education was primarily oriented toward the training ...
Agustín López Munguía, Octavio T. Ramírez, Rafael Vazquez‐Duhalt, Eduardo Bárzana   +3 more
wiley   +1 more source

Histopathological evidence of Fabry disease in a female patient with left ventricular noncompaction

Revista Portuguesa de Cardiologia, 2014
Fabry disease is a rare X-linked lysosomal storage disorder caused by mutations in the alpha-galactosidase gene. The most frequent cardiac presentation of Fabry disease is cardiomyopathy characterized by left ventricular (LV) hypertrophy, usually ...
Elisabete Martins, Teresa Pinho, Stirling Carpenter, Sérgio Leite, Raquel Garcia, António Madureira, João Paulo Oliveira   +6 more
doaj   +1 more source

Development and validation of a disease-specific quality of life scale for adult patients with Fabry disease in Japan

Journal of Patient-Reported Outcomes, 2022
Plain English summary Adults with Fabry disease experience severe challenges, which adversely impact their quality of life (QOL). As it is a rare disease, non-patients lack awareness of the severity of its symptoms and the resultant social difficulties ...
Yuta Koto, Wakana Yamashita, Yoko Lee, Nozomi Hadano, Chikara Kokubu, Norio Sakai   +5 more
doaj   +1 more source

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

Epilepsy Phenotypic Spectrum of NUS1‐Related Disorder: A Case Series

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Background Epilepsy with myoclonic and atonic seizures (EMAtS), also known as Doose syndrome, accounts for 1%–2% of childhood epilepsies, and various genes have been implicated in causing this epilepsy syndrome. NUS1 encodes for Nogo‐B receptor (NgBR), which stabilizes the dehydrodolichyl‐diphosphate synthase complex in the endoplasmic ...
Saumel Ahmadi, Natalie Fulton, Michael Morrissey, Rebekah Landre, Stuart Tomko, Fumihiko Urano, Réjean M Guerriero   +6 more
wiley   +1 more source

Cornea verticillata in Fabry disease [PDF]

Терапевтический архив, 2018
Cornea verticillata is the typical sign of ocular involvement in Fabry disease and manifests by the whorl-like, linear opacities in the inferior part of the cornea. Aim.
S V Moiseev, D S Ismailova, A S Moiseev, N M Bulanov, E A Karovaikina, N R Nosova, V V Fomin   +6 more
doaj   +1 more source