نتایج جستجو برای: type 1 tyrosinemia
تعداد نتایج: 3647237 فیلتر نتایج به سال:
Tyrosinemia is a rare genetic disease caused by mutations on genes that codify enzymes responsible for tyrosine metabolism. Considering that tyrosinemics patients usually present symptoms associated with central nervous system alterations that ranges from slight decreases in intelligence to severe mental retardation, we decided to investigate whether acute and chronic administration of L-tyrosi...
Two pairs of diastereoisomeric acetylenic norlignan compounds with PhCH(OR(1))CH(OR(2))CH(2)C triple bond CPh skeleta: (1R, 2R)-1-O-methylnyasicoside (1) and (1S, 2R)-1-O-methylnyasicoside (2), and (1R, 2R)-crassifogenin D (3) and (1S, 2R)- crassifogenin D (4), were isolated from the ethanolic extract of rhizomes of Curculigo crassifolia. Compounds 3 and 4 are new and their structures were eluc...
Direct reprogramming of somatic cells into pluripotent cells by retrovirus-mediated expression of OCT4, SOX2, KLF4, and C-MYC is a promising approach to derive disease-specific induced pluripotent stem cells (iPSCs). In this study, we focused on three murine models for metabolic liver disorders: the copper storage disorder Wilson's disease (toxic-milk mice), tyrosinemia type 1 (fumarylacetoacet...
BACKGROUND Liver transplantation for inherited metabolic disorders aims to save the patient's life when the disorder is expected to progress to organ failure, and to cure the underlying metabolic defect. METHODS We retrospectively analyzed 146 pediatric liver transplants (28 metabolic; 118 non-metabolic) performed between 1986 and 2000. RESULTS Twenty-eight transplants were performed in 24 ...
Hereditary tyrosinemia I (HT I) is a genetic disorder of tyrosine metabolism characterized by progressive liver damage from infancy and by a high risk for hepatocellular carcinoma. HT I is due to mutations in the fumarylacetoacetate hydrolase (Fah) gene, which encodes the last enzyme in the tyrosine catabolic pathway. Disturbances in tyrosine metabolism lead to increased levels of succinylaceto...
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