caa a22 4500 469045264 CHVBK 20180323132822.0 cr unu---uuuuu 170328e19920301xx s 000 0 eng 10.1007/BF01799625 doi (NATIONALLICENCE)springer-10.1007/BF01799625 DNA-based presymptomatic diagnosis of Wilson disease [Elektronische Daten] [D. Gaffney, J. Walker, J. O'Donnell, G. Fell, K. O'Neill, R. Park, R. Russell] Summary: Investigation using DNA markers in a family with Wilson disease revealed that an apparently normal child of 10 years of age with non-diagnostic copper biochemistry had the disease. The procedure used linked restriction fragment length polymorphic markers. Demonstration of increased liver copper concentration from a liver biopsy confirmed the diagnosis and the child was started on chelation therapy. Two other asymptomatic siblings were shown, using the same techniques, not to have the disease. Similar analysis was carried out on another family with just one index case. SSIEM and Kluwer Academic Publishers, 1992 Gaffney D. Institute of Biochemistry, Glasgow Royal Infirmary, Castle St, G4 0SF, Glasgow aut Walker J. Institute of Biochemistry, Glasgow Royal Infirmary, Castle St, G4 0SF, Glasgow aut O'Donnell J. Institute of Biochemistry, Glasgow Royal Infirmary, Castle St, G4 0SF, Glasgow aut Fell G. Institute of Biochemistry, Glasgow Royal Infirmary, Castle St, G4 0SF, Glasgow aut O'Neill K. Midlock Medical Centre, 7 Midlock St, G51 1SL, Glasgow, Scotland aut Park R. Gastroenterology Unit, Glasgow Royal Infirmary, Castle St, G4 0SF, Glasgow aut Russell R. Gastroenterology Unit, Glasgow Royal Infirmary, Castle St, G4 0SF, Glasgow aut Journal of Inherited Metabolic Disease Kluwer Academic Publishers 15/2(1992-03-01), 161-170 0141-8955 15:2<161 1992 15 10545 https://doi.org/10.1007/BF01799625 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF01799625 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Gaffney D. Institute of Biochemistry, Glasgow Royal Infirmary, Castle St, G4 0SF, Glasgow aut NATIONALLICENCE 700 1- Walker J. Institute of Biochemistry, Glasgow Royal Infirmary, Castle St, G4 0SF, Glasgow aut NATIONALLICENCE 700 1- O'Donnell J. Institute of Biochemistry, Glasgow Royal Infirmary, Castle St, G4 0SF, Glasgow aut NATIONALLICENCE 700 1- Fell G. Institute of Biochemistry, Glasgow Royal Infirmary, Castle St, G4 0SF, Glasgow aut NATIONALLICENCE 700 1- O'Neill K. Midlock Medical Centre, 7 Midlock St, G51 1SL, Glasgow, Scotland aut NATIONALLICENCE 700 1- Park R. Gastroenterology Unit, Glasgow Royal Infirmary, Castle St, G4 0SF, Glasgow aut NATIONALLICENCE 700 1- Russell R. Gastroenterology Unit, Glasgow Royal Infirmary, Castle St, G4 0SF, Glasgow aut NATIONALLICENCE 773 0- Journal of Inherited Metabolic Disease Kluwer Academic Publishers 15/2(1992-03-01), 161-170 0141-8955 15:2<161 1992 15 10545 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer