نتایج جستجو برای: children methylmalonic acidemia
تعداد نتایج: 465142 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...
OBJECTIVE To describe a case of vitamin B(12) deficiency with classic and rare clinical features and novel radiographic features. DESIGN Case report. SETTING Johns Hopkins Hospital neurology service. PATIENT Middle-aged man with neuropathy, myelopathy,impaired cognition, and extrapyramidal signs. RESULTS The patient had neurologic and hematologic signs of vitamin B(12) deficiency, with ...
OBJECTIVE: The aim of this work was to evaluate a protocol for investigation of Inborn Errors of Metabolism (IEM) in children who are acutely ill.METHODS: Forty six children with clinical suspicion of a metabolic disorder were studied during 2 years. They were selected through request for investigation of IEM from Pediatrics or Neonatal Intensive Care Units located in the metropolitan area of P...
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