Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Alessandra Spessa"'
Autor:
Anna Bozano, Alessandra Schiaffino, Alessandra Spessa, Francesca Valeriani, Raimondo Mancinelli, Vanna Micheli, Diego Dolcetta
Publikováno v:
JIMD Reports, Vol 52, Iss 1, Pp 63-71 (2020)
Abstract Background Lesch‐Nyhan disease (LND; OMIM 300322), caused by virtually absent hypoxanthine‐guanine phosphoribosyltransferase activity, in its classic form is characterised by hyperuricemia, variable cognitive impairment, severe motor dis
Externí odkaz:
https://doaj.org/article/b5bc99d92e90416fa80162f637e53efb
Autor:
Diego Dolcetta, Alessandra Spessa, Raimondo Mancinelli, Alessandra Schiaffino, Vanna Micheli, Francesca Valeriani, Anna Bozano
Publikováno v:
JIMD Reports
JIMD Reports, Vol 52, Iss 1, Pp 63-71 (2020)
JIMD Reports, Vol 52, Iss 1, Pp 63-71 (2020)
Background Lesch‐Nyhan disease (LND; OMIM 300322), caused by virtually absent hypoxanthine‐guanine phosphoribosyltransferase activity, in its classic form is characterised by hyperuricemia, variable cognitive impairment, severe motor disorder and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa739ca847d82b75dde5e46c1301416c
http://europepmc.org/articles/PMC7052696
http://europepmc.org/articles/PMC7052696