Associated Papers
Aminolevulinate inhibition of human coproporphyrinogen oxidase clarifies coproporphyrin III accumulation in porphyrias.
Schedlbauer A et al.
Bioscience Reports, 2026
Identification of the Mutations Spectrum in the Fumarylacetoacetate Hydrolase Gene in Tyrosinemia Type 1 Patients in Northeastern Iran.
Yazdani AH et al.
Biochemical Genetics, 2025
Intersection of rare pathogenic variants from TCGA in the All of Us Research Program v6.
Bates BA et al.
Hgg Advances, 2025
Rare variants in cardiomyopathy genes predispose to cardiac injury in severe COVID-19 patients of African or Hispanic ancestry.
Qu HQ et al.
Journal of Molecular Medicine (berlin, Germany), 2025
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
Integrative Analysis of Germline Rare Variants in Clear and Non-clear Cell Renal Cell Carcinoma.
Han SH et al.
European Urology Open Science, 2024
Integrative Analysis of Germline Rare Variants in Clear and Non-Clear Cell Renal Cell Carcinoma.
Han S et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
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).
Chi H et al.
Molecular Genetics & Genomic Medicine, 2023
The germline mutational landscape of genitourinary cancers and its indication for prognosis and risk.
Yang Y et al.
Bmc Urology, 2022
A case report of two siblings with hypertyrosinemia type 1 presenting with hepatic disease with different onset time and severity.
Kawabata K et al.
Molecular Genetics and Metabolism Reports, 2022
Therapeutic Targeting of Fumaryl Acetoacetate Hydrolase in Hereditary Tyrosinemia Type I.
Gil-Martínez J et al.
International Journal of Molecular Sciences, 2021
Hereditary tyrosinemia type I-associated mutations in fumarylacetoacetate hydrolase reduce the enzyme stability and increase its aggregation rate.
Macias I et al.
The Journal of Biological Chemistry, 2019
Inborn Errors of Metabolism with Hepatopathy: Metabolism Defects of Galactose, Fructose, and Tyrosine.
Demirbas D et al.
Pediatric Clinics of North America, 2018
Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations.
Chinsky JM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
The population genetics of human disease: The case of recessive, lethal mutations.
Amorim CEG et al.
Plos Genetics, 2017
Molecular Aspects of the FAH Mutations Involved in HT1 Disease.
Morrow G et al.
Advances in Experimental Medicine and Biology, 2017
Silent Tyrosinemia Type I Without Elevated Tyrosine or Succinylacetone Associated with Liver Cirrhosis and Hepatocellular Carcinoma.
Blackburn PR et al.
Human Mutation, 2016
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
Geographical and Ethnic Distribution of Mutations of the Fumarylacetoacetate Hydrolase Gene in Hereditary Tyrosinemia Type 1.
Angileri F et al.
Jimd Reports, 2015
Stereotactic radiofrequency ablation for liver tumors in inherited metabolic disorders.
Karall D et al.
Cardiovascular and Interventional Radiology, 2014
Identification of a combined missense/splice-site mutation in FAH causing tyrosinemia type 1.
Haghighi-Kakhki H et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2014
[Mutation analysis of FAH gene in patients with tyrosinemia type 1].
Dou LM et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2013
Hereditary tyrosinaemia type I in Norway: incidence and three novel small deletions in the fumarylacetoacetase gene.
Bliksrud YT et al.
Scandinavian Journal of Clinical and Laboratory Investigation, 2012
Point mutation instability (PIN) mutator phenotype as model for true back mutations seen in hereditary tyrosinemia type 1 - a hypothesis.
van Dyk E et al.
Journal of Inherited Metabolic Disease, 2012
Identification of Novel Mutations in FAH Gene and Prenatal Diagnosis of Tyrosinemia in Indian Family.
Sheth JJ et al.
Case Reports in Genetics, 2012
Tyrosinemia type I--diagnostic issues and prenatal diagnosis.
Bijarnia S et al.
Indian Journal of Pediatrics, 2006
Tyrosinaemia type I--de novo mutation in liver tissue suppressing an inborn splicing defect.
Bliksrud YT et al.
Journal of Molecular Medicine (berlin, Germany), 2005
Frequent mutation reversion inversely correlates with clinical severity in a genetic liver disease, hereditary tyrosinemia.
Demers SI et al.
Human Pathology, 2003
Mutation screening for tyrosinaemia type I.
Heath SK et al.
Journal of Inherited Metabolic Disease, 2002
Mutation analysis of the FAH gene in Israeli patients with tyrosinemia type I.
Elpeleg ON et al.
Human Mutation, 2002
Crystal structure and mechanism of a carbon-carbon bond hydrolase.
Timm DE et al.
Structure (london, England : 1993), 1999
Spectrum of mutations in the fumarylacetoacetate hydrolase gene of tyrosinemia type 1 patients in northwestern Europe and Mediterranean countries.
Bergman AJ et al.
Human Mutation, 1998
Mutations in the fumarylacetoacetate hydrolase gene causing hereditary tyrosinemia type I: overview.
St-Louis M et al.
Human Mutation, 1997
Fumarylacetoacetase mutations in tyrosinaemia type I.
Rootwelt H et al.
Human Mutation, 1996
Two novel mutations involved in hereditary tyrosinemia type I.
St-Louis M et al.
Human Molecular Genetics, 1995
Self-induced correction of the genetic defect in tyrosinemia type I.
Kvittingen EA et al.
The Journal of Clinical Investigation, 1994
Tyrosinemia type 1--complex splicing defects and a missense mutation in the fumarylacetoacetase gene.
Rootwelt H et al.
Human Genetics, 1994