نتایج جستجو برای: galactosemia
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This appendix presents information on sources of data and methods of calculation used in OTA’s costeffectiveness analysis of strategies for newborn screening, which is presented in chapter 5. That chapter considered seven different strategies offering different combinations of tests for phenylketonuria (PKU), congenital hypothyroidism, galactosemia, maple syrup urine disease (MSUD), and homocys...
FANCONI SYNDROME is a renal dysfunction associated with a variety of metabolic disorders, including tyrosinemia, cystinosis, Wilson’s disease, glycogen storage disease,1 galactosemia and oculocerebrorenal syndrome of Lowe.2,3 Detection of maleate-induced Fanconi syndrome by decreasing accumulation of 125I-3-iodo-α-methyl-L-tyrosine in the proximal tubule segment-1 region of renal cortex in mice...
Galactose-1-phosphate uridyl transferase activity has been demonstrated in hybrid cells formed from the fusion of human diploid fibroblasts obtained from different patients with galactosemia. The enzyme produced by the hybrid cells was similar to the normal enzyme in regard to K(m), pH optimum, and electrophoretic mobility on starch gel, but differed in specific activity, V(max) and thermal sta...
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