Zobrazeno 1 - 10
of 1 829
pro vyhledávání: '"α galactosidase a"'
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 40, Iss , Pp 101118- (2024)
Enzyme replacement therapy (ERT) with recombinant human α-galactosidase A (α-Gal A) drugs (agalsidases) has been successfully used for treatment of Fabry disease, and three kinds of agalsidases are now available in Japan. To compare the biochemical
Externí odkaz:
https://doaj.org/article/674cb07d3b214bc1942ac795d8d65842
Autor:
Nikola Gjorgjievski, Vlatko Karanfilovski, Todor Arsov, Pavlina Dzekova Vidimliski, Galisna Severeova Andreevska, Gjulshen Selim, Petar Dejanov, Vasilena Jordanova, Ivelina Marinova, Emil Paskalev, Igor G. Nikolov
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
IntroductionFabry disease is a rare X-linked lysosomal storage disorder caused by α-galactosidase A (α-Gal A) deficiency. Reduced or absent enzyme activity causes progressive lysosomal accumulation of globotriaosylceramide (Lyso-Gb3) in various cel
Externí odkaz:
https://doaj.org/article/c49a66edc75f4ad4871af1d3464a24e8
Autor:
Olga Ya. Smirnova, Nato D. Vashakmadze, Maria S. Karaseva, Natalia V. Zhurkova, Anna Yu. Rachkova, Leyla S. Namazova-Baranova
Publikováno v:
Вопросы современной педиатрии, Vol 23, Iss 1, Pp 6-12 (2024)
Fabry disease (FD), or Andersen-Fabry disease, is a rare hereditary lysosomal disease (sphingolipids storage disease) characterized by progressive multisystem involvement. The major symptoms among children are neuropathic pain / acroparesthesia, angi
Externí odkaz:
https://doaj.org/article/321c1dc2edfe441f83736bda0fa6bcef
Autor:
Pablo Rodríguez Doyágüez, Mónica Furlano, Elisabet Ars Criach, Yolanda Arce, Lluís Guirado, Roser Torra Balcells
Publikováno v:
Nefrología (English Edition), Vol 43, Iss , Pp 91-95 (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. This gene is involved in the metabolism of glycosphingolipids and its pathogenic variants cause a d
Externí odkaz:
https://doaj.org/article/b877b1a662324b6da1d080d28153b1f1
Autor:
Pablo Rodríguez Doyágüez, Mónica Furlano, Elisabet Ars Criach, Yolanda Arce, Lluís Guirado, Roser Torra Balcells
Publikováno v:
Nefrología, Vol 43, Iss , Pp 90-94 (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. Este gen interviene en el metabolismo de los glucoesfingolípidos y vari
Externí odkaz:
https://doaj.org/article/65b8e8cd9e37448da518e9825295d59d
Autor:
Joseph P. Gulizia, Susan M. Bonilla, Jose I. Vargas, Santiago J. Sasia, Sara Llamas-Moya, Tri Duong, Wilmer J. Pacheco
Publikováno v:
Journal of Applied Animal Research, Vol 51, Iss 1, Pp 308-322 (2023)
A 42-day experiment assessed the effects of phytase and a multicarbohydrase complex containing α-galactosidase (CAG) on broiler performance, processing yield, and nutrient digestibility. Exactly 2250-day-old male broilers were distributed in 90 floo
Externí odkaz:
https://doaj.org/article/f02b0b3e35b941efbe864fd00a6a4350
Autor:
Andrzej Jaśkiewicz, Alina Kunicka-Styczyńska, Andrzej Baryga, Radosław Michał Gruska, Stanisław Brzeziński, Beata Świącik
Publikováno v:
Molecules, Vol 29, Iss 15, p 3526 (2024)
The study investigates the efficacy of an enzymatic preparation primarily with α-galactosidase activity for improving the quality of white sugar from poor-quality sugar beets. Focused on overcoming raffinose accumulation challenges in sugar beets, e
Externí odkaz:
https://doaj.org/article/f7bc6d3d70564211b1eb22089c298d28
Autor:
Mulan Deng, Hongyu Zhou, Shaomei He, Haoheng Qiu, Yanping Wang, April Yuanyi Zhao, Yunping Mu, Fanghong Li, Allan Zijian Zhao
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-13 (2023)
Abstract Background Fabry disease (FD) is a progressive multisystemic disease characterized by a lysosomal enzyme deficiency. A lack of α-galactosidase A (α-Gal A) activity results in the progressive systemic accumulation of its substrates, includi
Externí odkaz:
https://doaj.org/article/db59864a565d4f54ad60dc9bf0bd89de
Publikováno v:
Терапевтический архив, Vol 95, Iss 6, Pp 505-510 (2023)
FabryAndersen disease is a genetically determined, progressive disease related to lysosomal storage diseases, linked to the X chromosome, characterized by impaired glycosphingolipid metabolism, due to the deficiency or absence of the enzyme -galactos
Externí odkaz:
https://doaj.org/article/6661e46e27314103a723fcdb4f233159
Publikováno v:
罕见病研究, Vol 2, Iss 3, Pp 442-449 (2023)
Fabry disease is an X-linked inherited lysosomal storage disease caused by the mutation of GLA gene that encodes α-galactosidase A (α-Gal A). GLA gene mutation causes the decline or deficiency in the activity of α-Gal A, leading to the accumulatio
Externí odkaz:
https://doaj.org/article/730aaa2ae91d484780888722c382164d