نتایج جستجو برای: ethylmalonic aciduria
تعداد نتایج: 1386 فیلتر نتایج به سال:
The purpose of this study was to identify the biochemical and genetic defect in L-2-hydroxyglutaric aciduria, a neurometabolic disorder characterized by the presence of elevated concentrations of L-2-hydroxyglutaric acid in urine, plasma, and cerebrospinal fluid. Evidence is provided for the existence in rat tissues of a FAD-dependent enzyme catalyzing specifically the oxidation of L-2-hydroxyg...
Case presentation: EMS, 5 years old, 1st child of a non-consanguineous couple, with no relevant antecedents, have started neuropsychomotor development regression at 2 old. The parents noticed slower speech, in addition to bad concentration. At the first appointment tertiary pediatric neurology service city São Paulo, patient had lowered cognitive level for his age, bradylalia and dysarthria. He...
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