Zobrazeno 1 - 10
of 349
pro vyhledávání: '"Gla gene"'
Publikováno v:
Kidney & Blood Pressure Research, Vol 49, Iss 1, Pp 799-811 (2024)
Introduction: The diagnosis of Fabry disease (FD) with genetic variants of unknown significance (VUSs) is relatively difficult. We explored patients with novel VUS variants and concomitant immunoglobulin A nephropathy (IgAN) to improve the understand
Externí odkaz:
https://doaj.org/article/3948c7a6ee924cb38502a3edcc9059fb
Publikováno v:
Frontiers in Cardiovascular Medicine, Vol 11 (2024)
Fabry disease (FD) is a rare X-linked inherited lysosomal storage disorder. The abnormal accumulation of metabolic substrates induces inflammation and fibrosis in cells, resulting in organ dysfunction. The clinical manifestations of FD are diverse an
Externí odkaz:
https://doaj.org/article/b8bcdaaf63fb4791bacf177a04ee17c3
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
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-10 (2022)
Abstract Background Fabry disease (FD, OMIM #301500) is an X-linked lysosomal disorder caused by the deficiency of α-galactosidase A (α-GalA), encoded by the GLA gene. Among more than 1100 reported GLA mutations, few were deep intronic mutations wh
Externí odkaz:
https://doaj.org/article/c272c5c683c74a5fbf594c75b1e12fab
Autor:
Xin Chen, Hezhi Li, Hongtao Liao, Xianzhang Zhan, Zhian Zhong, Qianhuan Zhang, Lie Liu, Yuanhong Liang, Hai Deng, Xianhong Fang, Yumei Xue, Shulin Wu, Yang Liu
Publikováno v:
ESC Heart Failure, Vol 8, Iss 6, Pp 5436-5444 (2021)
Abstract Aims Fabry disease (FD) is an X‐linked genetic disease caused by mutations in the GLA gene that leads to deficient activity of lysosomal enzymes, accumulation of globotriaosylceramide in multi‐organ systems, and variant clinical manifest
Externí odkaz:
https://doaj.org/article/084a5b90b8174f61b0fa80e0d9867728
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2022)
Externí odkaz:
https://doaj.org/article/161a368ac10a4df59407ade3e30b93a8
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2022)
Inherited renal diseases represent 20% of the causes of end-stage renal diseases. Fabry disease, an X-linked lysosomal storage disorder, results from α-galactosidase A deficient or absent activity followed by globotriaosylceramide (Gb3) accumulation
Externí odkaz:
https://doaj.org/article/5d1e3c859b354c44b930a24828559cf3
Autor:
Shinichiro Yoshida, Jun Kido, Takaaki Sawada, Ken Momosaki, Keishin Sugawara, Shirou Matsumoto, Fumio Endo, Kimitoshi Nakamura
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-11 (2020)
Abstract Background Fabry disease (FD) is a X-linked inherited disorder caused by mutations in the GLA gene, which results in the deficiency of α-galactosidase A (α-Gal A). This leads to the progressive accumulation of metabolites, which can cause
Externí odkaz:
https://doaj.org/article/8062074bac414e27a9ff64361383c3cc
Publikováno v:
BMC Pediatrics, Vol 20, Iss 1, Pp 1-4 (2020)
Abstract Background Fabry disease is a rare inborn error of metabolism with profound clinical consequences if untreated. It is caused by the deficiency of α galactosidase A enzyme and is the only lysosomal storage disorder with an X linked inheritan
Externí odkaz:
https://doaj.org/article/b398c307324743a482c0a24bb1867ed6
Publikováno v:
Advances in Rheumatology, Vol 60, Iss 1, Pp 1-8 (2020)
Abstract Background Fabry disease (FD) is an X-linked lysosomal disorder due to mutations in the GLA gene resulting in defective enzyme alpha-galactosidase A. FD patients are frequently misdiagnosed, commonly for rheumatic diseases. Determining patho
Externí odkaz:
https://doaj.org/article/babafbd9294a4aaf926624bf60451cfd