نتایج جستجو برای: methylmalonic acidemia disorder
تعداد نتایج: 598789 فیلتر نتایج به سال:
Methylmalonic aciduria (MMA) and homocystinuria, cblC type (MIM 277400) is the most frequent inborn error of vitamin B(12). The recent identification of the disease gene, MMACHC, has permitted preliminary genotype-phenotype correlations. We studied 24 Italian and 17 Portuguese patients with cblC defect to illustrate the spectrum of mutations in a southern European population and discuss the imp...
The increased urinary excretion of methylmalonic acid in vitamin B12 deficiency has attracted attention and several studies have suggested that it has clinical value as a test of vitamin B12 deficiency (Cox and White, 1962; Bashir, Hinterberger, and Jones, 1966). Chromatographic methods of estimation have been used but are either time consuming or only semiquantitative over a narrow range of me...
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