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Lesch-Nyhan disease: A rare disorder with many unresolved aspects

“Lesch-Nyhan variants” has been introduced to describe a continuous spectrum of neurological involvement present in HPRT-deficient patients, with some degree of cognitive impairment, spasticity, dystonia, but without the complete syndrome. It is general opinion that genotype-phenotype correlations are based on HPRT residual activity, the severity of neurological symptoms being inversely proportional to enzyme activity [ 31 , 32 , 33 ]. Site-directed mutagenesis and in vitro expression of mutant HPRT (44 mutations associated with a wide spectrum of clinical

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