Zobrazeno 1 - 10
of 3 798
pro vyhledávání: '"wilson disease."'
Publikováno v:
Regenerative Therapy, Vol 27, Iss , Pp 73-82 (2024)
Wilson disease (WD), also known as hepatolenticular degeneration, is an autosomal recessive disorder characterized by disorganized copper metabolism caused by mutations in the ATP7B gene. Currently, the main treatment options for WD involve medicatio
Externí odkaz:
https://doaj.org/article/fcb46f3743394d56bfd04dd7dbed2d93
Autor:
Shamantha Gopichand, Sunil Rajanna, Tirthankar Mukherjee, Rakshith Somanahalli Chikkanna, Nalini Modepalli
Publikováno v:
Journal of Clinical and Diagnostic Research, Vol 18, Iss 11, Pp 11-15 (2024)
Introduction: Diabetic Kidney Disease (DKD) is a major complication of Diabetes Mellitus (DM). Renal biopsy is the gold standard for the diagnosis and management of many renal diseases. Renal Interstitial Fibrosis and Tubular Atrophy (IFTA), as well
Externí odkaz:
https://doaj.org/article/32e67a2b02e843fa871dabb02ac0e1f9
Autor:
Filipe Calinas, Hélder Cardoso, Sofia Carvalhana, José Ferreira, Cristina Gonçalves, Marina Magalhães, Helena Pessegueiro Miranda, José Presa, Carla Rolanda, Arsénio Santos, Rui M. Santos
Publikováno v:
GE: Portuguese Journal of Gastroenterology, Pp 1-17 (2024)
Wilson disease (WD) is a genetic disorder of copper metabolism caused by mutations in the ATP7B gene resulting in toxic copper accumulation in several organs. WD can manifest as liver disease, a progressive neurological disorder, a psychiatric illnes
Externí odkaz:
https://doaj.org/article/13e3f60c2d51485e859a9bd3dfa66a9c
Autor:
Isabelle Mohr, Timo Schmitt, Christophe Weber, Nicolas Schall, Viola Yuriko Leidner, Andrea Langel, Jessica Langel, Aurélia Poujois, Karl Heinz Weiss, Uta Merle
Publikováno v:
JIMD Reports, Vol 65, Iss 6, Pp 406-416 (2024)
Abstract This study evaluates the effectiveness and safety of trientine dihydrochloride (TETA 2‐HCl) in patients with Wilson disease (WD) following a switch from trientine tetrahydrochloride (TETA 4‐HCl). A total of 30 WD patients with stable cop
Externí odkaz:
https://doaj.org/article/1cf0286e825d41a5985902327509569f
Autor:
Anshul Sood, MBBS, Gaurav Vedprakash Mishra, MBBS, MD, Pratapsingh Parihar, MBBS, MD, Shreya Khandelwal, MBBS, Nishtha Manuja, MBBS
Publikováno v:
Radiology Case Reports, Vol 19, Iss 11, Pp 5115-5118 (2024)
Arachnoid cysts can be intra-cranial or along the spinal cord. Intracranial arachnoid cyst is a very rare finding, trauma being the leading case of it. It is extremely rare for the development of intra-diploic arachnoid cyst without a traumatic histo
Externí odkaz:
https://doaj.org/article/063f6f5d4cc340ec80becc445401b7d7
Publikováno v:
International Medical Case Reports Journal, Vol Volume 17, Pp 819-822 (2024)
Nuri Mehmet Basan,1 Mohamed Sheikh Hassan,2 Zeynep Gökhan,1 Sena Nur Alper,1 Sümeyye Şevval Yaşar,1 Tuğçe Gür,1 Ayhan Köksal1 1Department of Neurology, University of Health Science, Başakşehir Çam and Sakura C
Externí odkaz:
https://doaj.org/article/e1dcf06b9ac44cc69a471dc00f9d89dd
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-9 (2024)
Abstract Background Wilson disease (WD) is a rare disorder of copper metabolism, causing copper accumulation mainly in the liver and the brain. The prevalence of WD was previously estimated around 20 to 33.3 patients per million for the United States
Externí odkaz:
https://doaj.org/article/6bee8a7810134c238a92a9c16191f466
Publikováno v:
BMC Pediatrics, Vol 24, Iss 1, Pp 1-9 (2024)
Abstract Background Wilson disease (WD) is an autosomal recessive inherited disease caused by ATP7B variants and characterized by copper metabolism defects. However, children with WD are often asymptomatic, making the clinical diagnosis difficult. Th
Externí odkaz:
https://doaj.org/article/8f4163c0f5054f2eb931defc8924e033
Autor:
Shaoze Lin, Jianling Cai, Yuxuan Huang, Hongxing Chen, Meidie Yu, Dongqing Zhang, Zhanqin Huang
Publikováno v:
BMC Medical Genomics, Vol 17, Iss 1, Pp 1-5 (2024)
Abstract Background Wilson disease (WD) is an autosomal recessive disorder caused by homozygous or compound heterozygous mutations in ATP7B. Clinical manifestations primarily involve liver and nervous system lesions, with rarely observed hematologic
Externí odkaz:
https://doaj.org/article/71b83e8cd8a948aab627accd392bc718
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-8 (2024)
Abstract Objectives Wilson disease (WD) is a rare genetic disease affecting copper metabolism and the biliary tract’s copper excretion. Lifelong medication is necessary to prevent liver failure, neurological complications, and death. Although D-pen
Externí odkaz:
https://doaj.org/article/66aba52ddef44381ae2cd3ea20d988ad