نتایج جستجو برای: lesch
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Abbreviations:ANOCOVA, analysis of covariance; CCR, ECa, apparent soil electrical conductivity (dS m−1); ECe, e uration extract (dS m−1); EMh, ECa measured with electro izontal coil configuration (dSm−1); EMv, ECameasuredwi the vertical coil configuration (dS m−1); EMI, electrom specific regression; MSE, mean square error; MSPE, mean ⁎ Corresponding author. Tel.: +1 951 369 4819; fax: + E-mail ...
This paper describes Lesch-Nyhan syndrome in a 1-year-old boy. This X-linked recessive error of purine metabolism presents in infancy with a constellation of mental and developmental retardation, self-mutilating behavior, neurological features and abnormal urine uric acid: creatinine ratio. The basic defect is deficiency in phosphoribosyl transferase production but exact pathomechanism for clin...
Lesch-Nyhan disease is a disorder of purine metabolism resulting from mutations in the gene for hypoxanthine guanine phosphoribosyl transferase on the X chromosome. It is characterized by hyperuricemia and all of its consequences, as in gout; but in addition, patients have impressive disease of the central nervous system. This includes spasticity, involuntary movements, and retardation of motor...
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