نتایج جستجو برای: inborn error of metabolism
تعداد نتایج: 21199544 فیلتر نتایج به سال:
In 1951 Leigh described a condition which is now known as subacute necrotizing encephalomyelopathy. Ebels, Blokzijl, and Troelstra (1965) have summarized findings in 28 of these patients, all of whom died. Since then 6 further cases have been described by Worsley et al. (1965), Namiki (1965), Lakke, Ebels, and ten Thye (1967), and Clayton, Dobbs, and Patrick (1967). The metabolic background of ...
3-methylcrotonyl CoA carboxylase (3-MCC) deficiency is an inborn error of leucine amino acid metabolism. An isolated enzyme should be differentiated from biotin metabolism disorder which has all the four deficiencies. With advent tandem mass spectrometry (TMS), high number infants have been diagnosed with 3-MCC deficiency. Most neonates having appear normal, studies shown increased risk develop...
Background: Molybden, as a vital and essential micronutrient is directly involved in the metabolism of other elements including carbon, sulfur, and nitrogen. Molybdenum alone is not biologically active unless it binds to specific cofactors. Except for the bacterial nitrogenase, which contains molybdenum-Iron complex, molybdenum cofactor (Moco) is considered as the bioactive component placed in ...
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