Zobrazeno 1 - 10
of 521
pro vyhledávání: '"ATP7B Gene"'
Autor:
Jianjian Dong, Guanghai Xiang, Xiaoxue Xia, Lewen Xu, Peihua Wen, Chenchen Xu, Yin Xu, Yushuang Su, Yanze Song, Haiyang Tong, Qingjun Zhu, Yongzhu Han, Yongsheng Han, Nan Cheng, Haoyi Wang, Hong Zhou
Publikováno v:
Journal of Neuroinflammation, Vol 21, Iss 1, Pp 1-17 (2024)
Abstract Pathogenic germline mutations in the P-type copper-transporting ATPase (ATP7B) gene cause Wilson’s disease (WD), a hereditary disorder characterized by disrupted copper metabolism. The Arg778Leu (R778L) mutation in exon 8 is prevalent amon
Externí odkaz:
https://doaj.org/article/15332235f7c74a60be8f626d891f037c
Autor:
Denis K. Chernevskiy, Alla E. Lavrova, Ekaterina Yu. Konovalova, Elena Yu. Borisova, Natalia A. Doroshchuk, Olga S. Groznova
Publikováno v:
Вопросы современной педиатрии, Vol 23, Iss 2, Pp 104-110 (2024)
Wilson’s disease is severe autosomal recessive disease manifested primarily by hepatic, neurological, and psychiatric disorders due to excessive copper deposition in organs and tissues. Clinical case description. The variant with uncertain clinical
Externí odkaz:
https://doaj.org/article/c8d7f41d895a4124a16634aa7ed2845c
Publikováno v:
Klinicist, Vol 17, Iss 2, Pp 12-18 (2023)
Introduction. Despite modern advances in diagnostic technologies, the problem of Wilson (WD) disease prevalence remains relevant in the world; clinical and scientific interest in epidemiological studies varies in the Russian Federation and in differe
Externí odkaz:
https://doaj.org/article/6423e07e05be4d2f8605c81b27d4b612
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Frontiers Production Office
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
Externí odkaz:
https://doaj.org/article/d70e92ba961e43d784976318fc4025f7
Autor:
Karima Lafhal, Es-said Sabir, Abdelmalek Hakmaoui, Miloud Hammoud, Abdelmohcine Aimrane, Samira Najeh, Imane Assiri, Abdelaati Berrachid, Najwa Imad, Chaima Ait Boujemaa, Faissal Aziz, Fatima Zahra El Hanafi, Abdessamad Lalaoui, Hasna Aamri, Iryna Boyko, Ana Sánchez-Monteagudo, Carmen Espinós, Imane Ait Sab, Nisrine Aboussair, Aicha Bourrahouat, Naima Fdil
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 36, Iss , Pp 100984- (2023)
Background: Wilson Disease (WD) is an autosomal recessive inherited metabolic disease caused by mutations in the ATP7B gene. WD is characterized by heterogeneous clinical presentations expressed by hepatic and neuropsychiatric phenotypes. The disease
Externí odkaz:
https://doaj.org/article/2b5a71fe814d4cfc853165f69d5a9f6a
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
IntroductionWilson's disease is an autosomal recessive disorder caused by ATP7B pathogenic mutations. The hallmark of this disorder mainly consists of liver involvement, neurologic dysfunction and psychiatric features. In addition, the kidneys can al
Externí odkaz:
https://doaj.org/article/acd4c853269a426fbf5f0ff7ca90954d
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Veronica Cumpata
Publikováno v:
The Moldovan Medical Journal, Vol 65, Iss 1, Pp 61-67 (2022)
Background: Wilson’s disease is a rare, autosomal recessive genetic disorder that affects the biliary excretion of copper and its toxic accumulation in various tissues, especially the liver and brain. It is widespread throughout the world, with a
Externí odkaz:
https://doaj.org/article/7af82af3df47400eace10c0b21d12bb6
Publikováno v:
Advances in Laboratory Medicine, Vol 3, Iss 2, Pp 103-113 (2022)
Wilson’s disease (WD) is an inherited disorder of copper metabolism caused by mutations in the ATP7B gene. This condition is characterized by the accumulation of copper in the liver and other organs and tissues causing hepatic and neuropsychiatric
Externí odkaz:
https://doaj.org/article/959a66e5b8714600b96c0ae4c63963a1