نتایج جستجو برای: type 1 tyrosinemia
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Tyrosinemia type II (Richner-Hanhart syndrome) is a rare autosomal recessive disease with deficiency of tyrosine aminotransferase and subsequently increasing level of serum tyrosine. We report the case of a 2-year-old girl who was referred due to bilateral corneal lesions. Slit-lamp examination showed small granular white deposits arranged in a dendritic pattern in the superficial central corne...
Inherited metabolic diseases (IMDs) are a large class of heterogeneous genetic disorders caused by dysfunction within a single pathway of intermediary metabolism. In many of these diseases, the dysfunction of metabolic enzymes leads to the accumulation of toxic metabolites which disrupts the normal development of the central nervous system. With the advent of treatments that positively influenc...
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...
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