doi:10.1080/00185868.1964.12082899M. MoseleyTaylor And FrancisHospital Topics
Wilson disease is an autosomal recessive inherited disorder of copper metabolism resulting in pathological accumulation of copper in many organs and tissues. The hallmarks of the disease are the presence of liver disease, neurological symptoms and Kayser-Fleischer corneal rings. The incidence of Wilson ...
Background and Aims:The liver is the first organ affected by toxic copper in the classical and severe hepatic forms of Wilson’s disease (WD). Because their associated chronic liver damage is mostly asymptomatic, an intervention using a special test including serum alanine aminotransferase (ALT) a...
40.Witt H, Landt O. Rapid detection of the Wilson's disease H1069Q mutation by melting curve analysis with the LightCycler.Clin Chem Lab Med. 2001;39:953-955.[DOI] 41.Tarnacka B, Gromadzka G, Rodo M, Mierzejewski P, Czloonkowska A. Frequency of His1069Gln and Gly1267Lys mutations...
(1) the Wilson Disease Mutation Database in the University of Alberta, maintained by the Cox Lab (http://www.wilsondisease.med.ualberta .ca/database.asp);10 (2) the UniProt (Universal Protein Resource) accession of ATP7B protein P35670 (http://www.uniprot.org/uniprot/P35670); (3) ...
What are the symptoms of Dupuytren disease thickening of palmar aponeurosis, progressive flexion of 4th and 5th digits of hand What does adipocytes secrete? leptin and adiponectin What has a lot of mitochondria that has uncoupling protein UCP-1 and uncouples oxidation of fatty acids from ATP produc...
8: 821-824 (1 974) Apoceruloplasmin copper deficiency holoceruloplasmin kinky hair syndrome neonate umbilical cord Wilson's disease Determination of Apoceruloplasmin by Radioimmunoassay in Nutritional Copper Deficiency, Menkes' Kinky Hair Syndrome, Wilson's Disease, and Umbilical Cord Blood Genetics Unit...
Wilson disease is rarely reported among African children. This report describes the second case report of a Nigerian child with Wilson disease in three decades. An eight-year-old African boy presented with generalized oedema and ascites and proteinuria.
Her passion for this issue, and in particular her belief in the need to challenge the many myths around the disease – was one of the things that prompted me to look in depth at AIDS denialism when I came to write “Don’t Get Fooled Again”. Charlotte was killed not in Rwanda, but...
Characterization of the molecular defect in the ATP7B gene in Wilson disease patients from Yugoslavia. Genet. Test. 2003, 7, 107–112. [Google Scholar] [CrossRef] Vrabelova, S.; Letocha, O.; Borsky, M.; Kozak, L. Mutation analysis of the ATP7B gene and genotype/phenotype correlation ...