Associated Papers
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
Mutation spectrum of Tyrosinemia type I in Iran, A retrospective cohort study.
Beyzaei Z et al.
European Journal of Medical Genetics, 2024
Clinical, Biochemical, and Molecular Characteristics of Filipino Patients with Tyrosinemia Type 1.
Cavan BCV et al.
International Journal of Neonatal Screening, 2024
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
Interplay of Mendelian and polygenic risk factors in Arab breast cancer patients.
Al-Jumaan M et al.
Genome Medicine, 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
De novo and inherited variants in coding and regulatory regions in genetic cardiomyopathies.
Vadgama N et al.
Human Genomics, 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
Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese.
Chau JFT et al.
Npj Genomic Medicine, 2022
Hereditary tyrosinemia type Ⅰ: newborn screening, diagnosis and treatment.
Tang Y et al.
Zhejiang Da Xue Xue Bao. Yi Xue Ban = Journal of Zhejiang University. Medical Sciences, 2021
Molecular Aspects of the FAH Mutations Involved in HT1 Disease.
Morrow G et al.
Advances in Experimental Medicine and Biology, 2017
Hereditary Tyrosinemia Type 1 in Turkey.
Aktuglu-Zeybek AC et al.
Advances in Experimental Medicine and Biology, 2017
Prenatal Diagnosis of Tyrosinemia Type 1 Using Next Generation Sequencing.
Rafati M et al.
Fetal and Pediatric Pathology, 2016
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
Geographical and Ethnic Distribution of Mutations of the Fumarylacetoacetate Hydrolase Gene in Hereditary Tyrosinemia Type 1.
Angileri F et al.
Jimd Reports, 2015
Compound mutations (R237X and L375P) in the fumarylacetoacetate hydrolase gene causing tyrosinemia type I in a Chinese patient.
Cao YY et al.
Chinese Medical Journal, 2012
Identification of mutations causing hereditary tyrosinemia type I in patients of Middle Eastern origin.
Imtiaz F et al.
Molecular Genetics and Metabolism, 2011
Long-term outcome of living donor liver transplantation in a Thai boy with hereditary tyrosinemia type I: a case report.
Jitraruch S et al.
Journal of the Medical Association of Thailand = Chotmaihet Thangphaet, 2011
Mutation spectrum of fumarylacetoacetase gene and clinical aspects of tyrosinemia type I disease.
Dursun A et al.
Jimd Reports, 2011
Newborn Screening for Tyrosinemia Type I: Further Evidence that Succinylacetone Determination on Blood Spot Is Essential.
la Marca G et al.
Jimd Reports, 2011
Mutation screening for tyrosinaemia type I.
Heath SK et al.
Journal of Inherited Metabolic Disease, 2002
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
Hereditary tyrosinemia type 1: novel missense, nonsense and splice consensus mutations in the human fumarylacetoacetate hydrolase gene; variability of the genotype-phenotype relationship.
Ploos van Amstel JK et al.
Human Genetics, 1996