نتایج جستجو برای: type 1 tyrosinemia
تعداد نتایج: 3647237 فیلتر نتایج به سال:
Tyrosinemia type 1 (TT1) is an inherited metabolic disease that can be fatal when not detected early by newborn screening. In the past, children with TT1 had a poor prognosis due to organ failure and neurologic crisis during infancy. Recent improvements in newborn screening have changed the prognosis of affected children. Measurement of succinylacetone by tandem mass spectrometry provides early...
OBJECTIVES This study sought to determine the prevalence of hepatocellular carcinoma and other premalignant lesions in children with hereditary tyrosinemia type 1 who had undergone an orthotopic liver transplant at the Shiraz Transplant Center, in Shiraz, Iran. MATERIALS AND METHODS Between September 2006, and June 2011, thirty-six patients with hereditary tyrosinemia type 1 received a liver ...
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...
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