Showing 21 - 40 results of 65 for search '"fumarylacetoacetate hydrolase"', query time: 2.37s Refine Results
  1. 21
    Harnessing a high cargo-capacity transposon for genetic applications in vertebrates.
    “... function to revert the deficiency of fumarylacetoacetate hydrolase in an animal model of hereditary...”
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    Article
  2. 22
    Bone marrow transplantation concurrently reconstitutes donor liver and immune system across host species barrier in mice.
    “... in recipient liver. Using a strain of mice deficient in tyrosine catabolic enzyme fumarylacetoacetate hydrolase...”
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    Article
  3. 23
    Type 1 Tyrosinemia with Hypophosphatemic Rickets; a Case Report
    “... affects liver and kidneys. It is caused by a defect in fumarylacetoacetate hydrolase...”
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    Article
  4. 24
    Girl With Tyrosinemia Type 1 and Executive Dysfunctions Treated With Methylphenidate
    “... by a deficiency of the enzyme fumarylacetoacetate hydrolase. This defect leads to accumulation of toxic...”
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    Article
  5. 25
    Changements physiopathologiques et moléculaires lors de la dysfonction hépatique dans un modèle murin de la tyrosinémie héréditaire de type 1
    by Roy, Vincent
    Published 2015
    “... déficience en fumarylacétoacétate hydrolase (FAH), la dernière enzyme du sentier catabolique de la tyrosine...”
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    Dissertation
  6. 26
    A Case Report of a Very Rare Association of Tyrosinemia type I and Pancreatitis Mimicking Neurologic Crisis of Tyrosinemia Type I
    “... metabolism due to the deficiency of fumarylacetoacetate hydrolase. Clinical manifestations include hepatic...”
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    Article
  7. 27
    Determining DNA damage and repair in human cells exposed to metabolites characteristic for tyrosinemia / Etresia van Dyk
    by Van Dyk, Etresia
    Published 2009
    “... of fumarylacetoacetate hydrolase (FAH) but the mechanism by which the hepatic and renal symptoms of HTI arise is largely...”
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  8. 28
    Mise au point d'une méthode de dosage du succinylacétone par spectrométrie de masse et validation de la méthode sur des liquides biologiques de patients souffrant de tyrosinémie héréditaire de type I
    by Cyr, Denis
    Published 2005
    “... l'enzyme fumarylacétoacétate hydrolase impliquée dans le catabolisme de la phénylalanine. Le...”
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  9. 29
    Changements physiopathologiques et moléculaires suite au retrait du NTBC des souris du modèle murin de la tyrosinémie héréditaire de type 1
    by El-Mounajjed, Hoda
    Published 2012
    “... déficience de la fumarylacétoacétate hydrolase menant à l'accumulation du fumarylacétoacétate qui peut être...”
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    Dissertation
  10. 30
    Determining DNA damage and repair in human cells exposed to metabolites characteristic for tyrosinemia / Etresia van Dyk
    by Van Dyk, Etresia
    Published 2009
    “... of fumarylacetoacetate hydrolase (FAH) but the mechanism by which the hepatic and renal symptoms of HTI arise is largely...”
    Get full text
  11. 31
    The homogentisate and homoprotocatechuate central pathways are involved in 3- and 4-hydroxyphenylacetate degradation by Burkholderia xenovorans LB400.
    “...400 grown in 3-HPA and 4-HPA showed the induction of fumarylacetoacetate hydrolase HmgB (BxeA3899...”
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    Article
  12. 32
    Hepatic Differentiation of Murine Disease-Specific Induced Pluripotent Stem Cells Allows Disease Modelling In Vitro
    “...: the copper storage disorder Wilson's disease (toxic-milk mice), tyrosinemia type 1 (fumarylacetoacetate...”
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    Article
  13. 33
    Tyrosinemia Type I and Reversible Neurogenic Crisis After a One-Month Interruption of Nitisinone
    “... of the enzyme fumarylacetoacetate hydrolase. The liver is the primary organ that is affected and comorbidities...”
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    Article
  14. 34
    FAH domain containing protein 1 (FAHD-1) is required for mitochondrial function and locomotion activity in C. elegans.
    “...The fumarylacetoacetate hydrolase (FAH) protein superfamily of metabolic enzymes comprises a...”
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    Article
  15. 35
    E3 Ubiquitin Ligase APC/C<sup>Cdh1</sup> Negatively Regulates FAH Protein Stability by Promoting Its Polyubiquitination
    “...Fumarylacetoacetate hydrolase (FAH) is the last enzyme in the degradation pathway of the amino...”
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    Article
  16. 36
    First Macedonian child with tyrosinemia type 1 successfully treated with nitisinone and report of a novel mutation in the FAH gene
    “... of tyrosine metabolism due to fumarylacetoacetate hydrolase (FAH) deficiency and accumulation of toxic...”
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    Article
  17. 37
    Hormonal Contribution to Liver Regeneration
    “... models, particularly fumarylacetoacetate hydrolase–deficient (FAH−/−) mice and pigs. The process...”
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    Article
  18. 38
    Ploidy reductions in murine fusion-derived hepatocytes.
    “..., fumarylacetoacetate hydrolase (FAH), and wild-type blood cells resulted in hepatocyte reprogramming. FAH expression...”
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    Article
  19. 39
    Clinical and para clinical findings in the children with tyrosinemia referring for liver transplantation
    “... of metabolism caused by deficiency of fumarylacetoacetate hydrolase enzyme. This disease manifests with severe...”
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    Article
  20. 40
    Extensive double humanization of both liver and hematopoiesis in FRGN mice
    “..., fumarylacetoacetate hydrolase (Fah−/−), Rag2−/− and Il2rg−/− deficient animals on the NOD-strain background (FRGN...”
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    Article
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