Results 31 to 40 of about 36,446 (263)
Srpski Arhiv za Celokupno LekarstvoWilson’s disease (WD) is an autosomal recessive inherited disorder of copper metabolism caused by mutations in the ATP7B gene, which is located on chromosome 13q14.3.
Svetel Marina +12 more
doaj +1 more source
Elastography of the Liver in Wilson’s Disease
Diagnostics, 2023 Staging of liver fibrosis is of special significance in Wilson’s disease as it determines the patient’s prognosis and treatment. Histopathological examination is a standard method for fibrosis assessment; however, non-invasive methods like transient ...
Piotr Nehring +2 more
doaj +1 more source
Liver transplantation for Wilson's disease: our experience with review of the literature
Annals of Hepatology, 2003 Background/Aims: Orthotopic liver transplantation is being used with more frequency as the treatment for Wilson's disease. The experience at the Instituto Nacional de Ciencias Medicas y Nutricion Salvador Zubiran with orthotopic liver transplantation for
Eitan Podgaetz, MD, Carlos Chan, MD
doaj +1 more source
Extensions on the Twenty-Fifth Amendment: The Influence of Biological Factors on Assessments of Impairment [PDF]
, 2010 Because the framers of the Twenty-Fifth Amendment were so prescient in their creation of this legislation, it behooves subsequent scholars to examine additional potential concerns that would not have entered the debate forty years ago. Huge advances have
McDermott, Rose
core +2 more sources
Service-based survey of dystonia in Munich [PDF]
, 2002 We performed a service-based epidemiological study of dystonia in Munich, Germany. Due to favourable referral and treatment patterns in the Munich area, we could provide confident data from dystonia patients seeking botulinum toxin treatment.
Ben-Shlomo, Y. +7 more
core +1 more source
Relative exchangeable copper: A highly specific and sensitive biomarker for Wilson disease diagnosis
JHEP ReportsBackground & Aims: Wilson disease (WD) is an autosomal recessive disorder characterized by copper accumulation in various organs, primarily the liver and brain. Standard assessment of copper metabolism includes total serum copper, serum ceruloplasmin,
Nouzha Djebrani-Oussedik +8 more
doaj +1 more source
Unilateral K-F ring in Wilson’s disease
GMS Ophthalmology Cases, 2023 Wilson’s disease, also called hepatolenticular degeneration, has varied clinical manifestations and poses diagnostic challenges. Kayser-Fleischer ring, when present, is considered pathognomic of Wilson’s disease.
Hegde, Shruti P. +1 more
doaj +1 more source
Neuropsychiatric disorders in Wilson’s disease: literature review
Neurologijos seminarai, 2023 Wilson’s disease is a rare autosomal recessive disease due to the pathogenic mutations in the ATP7B gene that causes impaired copper excretion in the liver and its accumulation in tissues and organs.
S. Galnaitytė, A. Musneckis
doaj +3 more sources
, 2018 Materials and methods. A detailed description of the sample acquisition, sample preparations, Sanger sequencing, alignment, and bioinformatics analyses (DOCX 30 kb)
Liu, Gang +9 more
openaire +1 more source
Diffusion tensor model links to neurite orientation dispersion and density imaging at high b-value in cerebral cortical gray matter [PDF]
, 2019 Diffusion tensor imaging (DTI) and neurite orientation dispersion and density imaging (NODDI) are widely used models to infer microstructural features in the brain from diffusion-weighted MRI. Several studies have recently applied both models to increase
Akasaka, Thai +11 more
core +2 more sources