نتایج جستجو برای: lesch
تعداد نتایج: 4630 فیلتر نتایج به سال:
In the recent past multiple efforts have been made to subtype alcoholism beyond ICD-10, mainly in order to take in account the course of the disease and its neurochemistry. The typology of Otto Lesch [1,2] has received considerable attention due to its practical value and its relevance for the prediction of treatment response. While the comorbidity of alcoholism and affective disorder has been ...
Alkaloids, tannins, saponins, steroid, terpenoid, flavonoids, phenolic compounds and cardie glycoside distribution in five medicinal plants belonging to different families were assessed and compared. The medicinal plants investigated were Asteracantha longifolia (L.) Nees, Psassiflora edulis Sims, Berberis tinctoria Lesch, Sphaeranthus indicus Linn, and Solanum trilobatum Linn. All the plants w...
Clinical and enzymatic studies on two brothers with severe deficiencies of erythrocyte hypoxanthineguanine phosphoribosyltransferase (HGPRTase) are described, and are compared with similar studies of a classical case of the Lesch-Nyhan syndrome from another family. The two brothers have no neurological abnormalities, only traces of erythrocyte HGPRTase, erythrocyte adenine phosphoribosyltransfe...
Different degrees of hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiency are associated with hyperuricemia, uric acid nephrolithiasis and severe gout. Up to 25-30% of HPRT deficient patients, indicated as neurological variants or HPRT-related hyperuricemia with neurological dysfunction (HRND), may develop neurological manifestation, from mild to severe; the most serious ones manife...
UNLABELLED Lesch-Nyhan syndrome is an X-linked recessive inborn error of metabolism due to a complete deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT) activity (OMIM 300322). Partial deficiency of HPRT (OMIM 300323) is characterized by the effects of excess uric acid synthesis and a continuum spectrum of neurological manifestations, without the manifestations of full-blown Le...
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