نتایج جستجو برای: tyrosinemia type ii
تعداد نتایج: 1796109 فیلتر نتایج به سال:
Introduction Many metabolic diseases influence brain function and are associated with psychiatric symptoms neuropsychiatric disorders (including autism-spectrum disorders, ADHD psychotic disorders). Attention-deficit-/hyperactivity disorder (ADHD) is among the most common neurodevelopmental in children, a worldwide prevalence of about 5% childhood. Tyrosinemia caused by genetic mutation fumaryl...
Hereditary tyrosinemia type 1 (HT-1) is a metabolic disorder caused by a defect in tyrosine degradation. Without treatment, symptoms of hepatomegaly, renal tubular dysfunction, growth failure, neurologic crises resembling porphyrias, rickets and possible hepatocellular carcinoma can develop. The use of 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione and early diagnosis through newborn...
BACKGROUND False-positive and false-negative results occur in current newborn-screening programs for hepatorenal tyrosinemia, which measure tyrosine concentrations in blood spots, sometimes in combination with other metabolites, including succinylacetone. We present our experience with a newly described method for succinylacetone quantification in routine newborn screening. METHODS Succinylac...
The management of tyrosinaemia type 1 (HT1, fumarylacetoacetase deficiency) has been revolutionised by the introduction of nitisinone but dietary treatment remains essential and the management is not easy. In this review detailed recommendations for the management are made based on expert opinion, published case reports and investigational studies as the evidence base is limited and there are n...
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