نتایج جستجو برای: type 1 tyrosinemia
تعداد نتایج: 3647237 فیلتر نتایج به سال:
INTRODUCTION Hereditary Tyrosinemia type 1 (HT1) is a rare metabolic disease caused by a defect in the tyrosine degradation pathway. Current treatment consists of 2-(2-nitro-4-trifluoromethylbenoyl)-1,3-cyclohexanedione (NTBC) and a tyrosine and phenylalanine restricted diet. Recently, neuropsychological deficits have been seen in HT1 patients. These deficits are possibly associated with low bl...
how to cite this article: alaee mr. mucopolysaccharidosis type 1. iran j child neurol autumn 2012; 6:4(suppl. 1):5. pls see pdf.
Hereditary tyrosinemia type 1 (HT1) is a severe autosomal recessive metabolic disease associated with point mutations in the human fumarylacetoacetate hydrolase (FAH) gene that disrupt tyrosine catabolism. An acute form of HT1 results in death during the first months of life because of hepatic failure, whereas a chronic form leads to gradual development of liver disease often accompanied by ren...
BACKGROUND Senescent cells occur in adults with cirrhotic livers independent of the etiology. AIM Investigate the presence rate of cellular senescence and expression of cell cycle check points in livers from children with end stage disease. METHODOLOGY/PRINCIPAL FINDINGS Livers of five children aged three years or less undergoing liver transplantation due to tyrosinemia (n = 1), biliary atr...
abstract background: an association of eating disorder with diabetes mellitus may lead to a serious lack of metabolic control, higher mortality and morbidity. there is no recent study conducted in the iranian population about eating disorder and its variants. the aim of the present study is investigation of frequency of disturbed eating behaviors in adolescent girls with type 1 diabetes mellitu...
Hereditary tyrosinemia type 1 (HT1) is an autosomal recessive disease caused by a deficiency of the enzyme involved in the last step of tyrosine degradation, fumarylacetoacetate hydrolase (FAH). Thus far, 34 mutations in the FAH gene have been reported in various HT1 patients. Site-directed mutagenesis of the FAH cDNA was used to investigate the effects of eight missense mutations found in HTI ...
BACKGROUND Tyrosinemia type 1 (TYR1) is a rare autosomal recessive disorder of amino acid metabolism that is fatal without treatment. With medication (nitisinone) and dietary restrictions outcomes are improved. We conducted a systematic review to investigate if treatment with nitisinone following screening provides better long-term outcomes than treatment with nitisinone following symptomatic d...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید