caa a22 4500 469044837 CHVBK 20180323132821.0 cr unu---uuuuu 170328e19920701xx s 000 0 eng 10.1007/BF01799622 doi (NATIONALLICENCE)springer-10.1007/BF01799622 Mouse models of hypoxanthine phosphoribosyltransferase deficiency [Elektronische Daten] [D. Williamson, M. Hooper, D. Melton] Summary: Lesch-Nyhan syndrome is an X-linked disease caused by the deficiency of hypoxanthine phosphoribosyltransferase, an enzyme involved in the purine salvage pathways. It is characterized by severe gout, choreoathetosis, self-mutilatory behaviour and mental retardation. The derivation of mice genetically deficient in this enzyme may help to elucidate the pathogenesis of the neurological abnormality where previously models using drug administration to mimic the disorder have had to suffice. SSIEM and Kluwer Academic Publishers, 1992 Williamson D. Department of Pathology, University Medical School, Teviot Place, EH8 9AG, Edinburgh aut Hooper M. Department of Pathology, University Medical School, Teviot Place, EH8 9AG, Edinburgh aut Melton D. Institute of Cell and Molecular Biology, Kings Buildings, Edinburgh University, Mayfield Road, EH9 3JR, Edinburgh, UK aut Journal of Inherited Metabolic Disease Kluwer Academic Publishers 15/4(1992-07-01), 665-673 0141-8955 15:4<665 1992 15 10545 https://doi.org/10.1007/BF01799622 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF01799622 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Williamson D. Department of Pathology, University Medical School, Teviot Place, EH8 9AG, Edinburgh aut NATIONALLICENCE 700 1- Hooper M. Department of Pathology, University Medical School, Teviot Place, EH8 9AG, Edinburgh aut NATIONALLICENCE 700 1- Melton D. Institute of Cell and Molecular Biology, Kings Buildings, Edinburgh University, Mayfield Road, EH9 3JR, Edinburgh, UK aut NATIONALLICENCE 773 0- Journal of Inherited Metabolic Disease Kluwer Academic Publishers 15/4(1992-07-01), 665-673 0141-8955 15:4<665 1992 15 10545 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer