Showing 1 - 7 results of 7 for search '"fumarylacetoacetate hydrolase"', query time: 0.31s Refine Results
  1. 1
    Mildly elevated succinylacetone and normal liver function in compound heterozygotes with pathogenic and pseudodeficient FAH alleles

    Mildly elevated succinylacetone and normal liver function in compound heterozygotes with pathogenic and pseudodeficient FAH alleles by Hao Yang, Francis Rossignol, Denis Cyr, Rachel Laframboise, Shu Pei Wang, Jean-François Soucy, Marie-Thérèse Berthier, Yves Giguère, Paula J. Waters, Grant A. Mitchell

    Published 2018-03-01
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  2. 2
    Transcriptome analysis to identify genes related to programmed cell death resulted from manipulating of BnaFAH ortholog by CRISPR/Cas9 in Brassica napus

    Transcriptome analysis to identify genes related to programmed cell death resulted from manipulating of BnaFAH ortholog by CRISPR/Cas9 in Brassica napus by Zhou Zhou, Tiantian Zhi, Jie Zou, Gang Chen

    Published 2024-11-01
    Subjects: “…Fumarylacetoacetate hydrolase…”
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  3. 3
    Tyrosinemia type I: an unusual case presentation

    Tyrosinemia type I: an unusual case presentation by Marwa ALMahroos, Mohammed AlMannai

    Published 2022-06-01
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  4. 4
    Mutational spectrum of Mexican patients with tyrosinemia type 1: In silico modeling and predicted pathogenic effect of a novel missense FAH variant

    Mutational spectrum of Mexican patients with tyrosinemia type 1: In silico modeling and predicted pathogenic effect of a novel missense FAH variant by Isabel Ibarra‐González, Cynthia Fernández‐Lainez, Miguel Angel Alcántara‐Ortigoza, Ariadna González‐Del Angel, Liliana Fernández‐Henández, Sara Guillén‐López, Leticia Belmont‐Martínez, Lizbeth López‐Mejía, Gustavo Varela‐Fascinetto, Marcela Vela‐Amieva

    Published 2019-12-01
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  5. 5
    The compound heterozygous mutations of c.607G>a and c.657delC in the FAH gene are associated with renal damage with hereditary tyrosinemia type 1 (HT1)

    The compound heterozygous mutations of c.607G>a and c.657delC in the FAH gene are associated with renal damage with hereditary tyrosinemia type 1 (HT1) by Huan Chi, Chun Gan, Yaru Jiang, Dan Chen, Jiawen Qiu, Qing Yang, Yaxi Chen, Mo Wang, Haiping Yang, Wei Jiang, Qiu Li

    Published 2023-01-01
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  6. 6
    Hereditary tyrosinaemia type 1 in the absence of succinylacetone: 4‐oxo 6‐hydroxyhepanoate (4OHHA), a putative diagnostic biomarker

    Hereditary tyrosinaemia type 1 in the absence of succinylacetone: 4‐oxo 6‐hydroxyhepanoate (4OHHA), a putative diagnostic biomarker by Preeya Rehsi, Karolina Witek, Erin Emmett, Rachel Carling, Charles Turner, Neil Dalton, Tim Hutchin, Nedim Hadzic, Anil Dhawan, Roshni Vara

    Published 2024-07-01
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  7. 7
    mRNA-based therapy proves superior to the standard of care for treating hereditary tyrosinemia 1 in a mouse model

    mRNA-based therapy proves superior to the standard of care for treating hereditary tyrosinemia 1 in a mouse model by Maximiliano L. Cacicedo, Christine Weinl-Tenbruck, Daniel Frank, Sebastian Wirsching, Beate K. Straub, Jana Hauke, Jürgen G. Okun, Nigel Horscroft, Julia B. Hennermann, Fred Zepp, Frédéric Chevessier-Tünnesen, Stephan Gehring

    Published 2022-09-01
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