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tyrosinemias/albumina
O link é salvo na área de transferência
4 resultados
Experience of a Single Center in NTBC Use in Management of Hereditary Tyrosinemia Type I in Libya.
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BACKGROUND
Hereditary Tyrosinemia type I (HTI) is a metabolic disease caused by deficiency of fumarylacetoacetate hydrolase enzyme.
OBJECTIVE
This study reports beside its clinical and biochemical presentation, the outcome of NTBC [2- (2-nitro-4-trifloro-methylbenzoyl)-1, 3-cyclohexanedion]
Hepatic differentiation of murine disease-specific induced pluripotent stem cells allows disease modelling in vitro.
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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
Neonatal intrahepatic cholestasis caused by citrin deficiency: clinical and laboratory investigation of 13 subjects in mainland of China.
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BACKGROUND
Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is a novel inborn error of metabolism due to dysfunction of citrin protein, and much more information about this new disease is still needed for its clinical management.
OBJECTIVE
To investigate in detail the clinical
Generation of liver disease-specific induced pluripotent stem cells along with efficient differentiation to functional hepatocyte-like cells.
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The availability of disease-specific induced pluripotent stem cells (iPSCs) offers a unique opportunity for studying and modeling the effects of specific gene defects on human liver development in vitro and for testing small molecules or other potential therapies for relevant liver disorders. Here
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