Zobrazeno 1 - 10
of 6 138
pro vyhledávání: '"alpha-galactosidase A"'
Autor:
Carolina Teles Barretto, Márcia Helena Cassago Nascimento, Bruna Ferro Brun, Tiago Barcelos da Silva, Pedro Augusto Costa Dias, Cassiano Augusto Braga Silva, Maneesh N. Singh, Francis L. Martin, Paulo Roberto Filgueiras, Wanderson Romão, Luciene Cristina Gastalho Campos, Valerio Garrone Barauna
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-9 (2024)
Abstract Background Fabry disease (FD) is a rare X-linked lysosomal storage disorder marked by alpha-galactosidase-A (α-Gal A) deficiency, caused by pathogenic mutations in the GLA gene, resulting in the accumulation of glycosphingolipids within lys
Externí odkaz:
https://doaj.org/article/9d8acc5dbdd94cfda34b04677ca3a383
Autor:
KASAPKARA, Cigdem Seher1 cskasapkara@gmail.com, OLGAC, Asburce2, YILDIZ, Ismail3, KASAPKARA, Haci Ahmet4, KILIC, Mustafa2
Publikováno v:
Journal of Pediatric Disease / Türkiye Çocuk Hastalıkları Dergisi. 2021, Vol. 15 Issue 2, p117-122. 6p.
Autor:
Alberto Viñado, Saksit Srinongkote, Josep Mascarell, Rene Morales, Javier Estévez, Sergi Carné
Publikováno v:
Journal of Applied Animal Research, Vol 52, Iss 1 (2024)
ABSTRACTTwo experiments were performed to assess the effects of an enzyme preparation (containing α-galactosidase and xylanase) on chicken performance, carcass traits, footpad dermatitis score, and nutrient digestibility. During first experiment, ch
Externí odkaz:
https://doaj.org/article/65a6cd8fca024c36914e372cffff51e6
Publikováno v:
European Food & Feed Law Review; 2024, Vol. 19 Issue 2, p87-91, 5p
Akademický článek
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Autor:
Eunjung Cho, Jung Tak Park, Tae-Hyun Yoo, Soo Wan Kim, Cheol Whee Park, Seung Seok Han, Yeong Hoon Kim, Young Joo Kwon
Publikováno v:
Kidney Research and Clinical Practice, Vol 43, Iss 1, Pp 71-81 (2024)
Background Fabry disease (FD) is an X-linked lysosomal storage disorder caused by the deficient activity of α-galactosidase (α- Gal A), affecting multiple organs including kidney. In this study, we aimed to determine the prevalence of FD in patient
Externí odkaz:
https://doaj.org/article/71a6c891c20744339a6af769ac83d896
Autor:
Cimmaruta, Chiara1 chiara.cimmaruta@unina.it, Citro, Valentina1 vale.ctr@gmail.com, Andreotti, Giuseppina2 gandreotti@icb.cnr.it, Liguori, Ludovica3 lud.liguori@gmail.com, Cubellis, Maria Vittoria1 achiara.cimmaruta@unina.it, Hay Mele, Bruno1,4 bruno.haymele@unina.it
Publikováno v:
BMC Bioinformatics. 11/30/2018 Supplement 15, Vol. 19 Issue 15, p39-46. 8p. 2 Charts, 3 Graphs.
Autor:
Javier Gervas-Arruga, Miguel Ángel Barba-Romero, Jorge Julián Fernández-Martín, Jorge Francisco Gómez-Cerezo, Cristina Segú-Vergés, Giacomo Ronzoni, Jorge J. Cebolla
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 19, p 10329 (2024)
Fabry disease (FD) is an X-linked lysosomal disease whose ultimate consequences are the accumulation of sphingolipids and subsequent inflammatory events, mainly at the endothelial level. The outcomes include different nervous system manifestations as
Externí odkaz:
https://doaj.org/article/836385a195614c439b1c643378791adc
Publikováno v:
BMC Nephrology, Vol 24, Iss 1, Pp 1-10 (2023)
Abstract Background Fabry disease (FD) is an X-linked, hereditary dysfunction of glycosphingolipid storage caused by mutations in the GLA gene encoding alpha-galactosidase A enzyme. In rare cases, FD may coexist with immunoglobulin A nephropathy (IgA
Externí odkaz:
https://doaj.org/article/9a674561f5bc417b9540c94cae2acf8b
Autor:
Dutra Rosolen, Michele1 (AUTHOR), Gennari, Adriano1 (AUTHOR), Volpato, Giandra2 (AUTHOR), de Souza, Claucia Fernanda Volken1 (AUTHOR) claucia@univates.br
Publikováno v:
Biocatalysis & Biotransformation. Aug2017, Vol. 35 Issue 4, p260-268. 9p.