Physiopathology of neurological signs of hypoxanthine-guanine phosphoribosyltransferase deficiency

Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is characterized by an increase in renal uric acid excretion, usually with hyperuricemia and may be associated with more or less important neurological symptoms. Based on a series of 20 patients from 16 Spanish families we propose that...

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Veröffentlicht in:	Revista de neurologiá 1998-12, Vol.27 (160), p.1050-1054
Hauptverfasser:	Torres-Jiménez, R, Mateos-Antón, F, Arcas-Martínez, J, Pascual-Castroviejo, I, García-Puig, J
Format:	Artikel
Sprache:	spa
Schlagworte:	Brain Diseases - diagnosis Brain Diseases - enzymology Brain Diseases - physiopathology Dopamine - metabolism Humans Hypoxanthine Phosphoribosyltransferase - deficiency Hypoxanthine Phosphoribosyltransferase - genetics Lesch-Nyhan Syndrome - diagnosis Lesch-Nyhan Syndrome - genetics Point Mutation - genetics
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