نتایج جستجو برای: nyhan syndrome
تعداد نتایج: 622040 فیلتر نتایج به سال:
BACKGROUND Lesch-Nyhan disease is an inborn error of purine metabolism that results from deficiency of the activity of hypoxanthine phosphoribosyltransferase (HPRT). The heterogeneity of clinical phenotypes seen in HPRT deficiency corresponds to an inverse relationship between HPRT enzyme activity and clinical severity. With rare exception, each mutation produces a stereotypical pattern of clin...
We have determined the genetic stability of three independent intragenic human HPRT gene duplications and the structure of each duplication at the nucleotide sequence level. Two of the duplications were isolated as spontaneous mutations from the HL60 human myeloid leukemia cell line, while the third was originally identified in a Lesch-Nyhan patient. All three duplications are genetically unsta...
First description: The first description of Lesch-Nyhan Disease may very well have been in the year 1267. Beck (Euro J of Ped Surg 1991) identified an origina l description of what is most probably LND when he uncovered cases of self-injury, gout, and menta l retardation in individuals living in a small village in England where St. Thomas, Archbishop of Canterbury, had been killed. The origina ...
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