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
Intersection of rare pathogenic variants from TCGA in the All of Us Research Program v6.
Bates BA et al.
Hgg Advances, 2025
Elective genomic screening: results of the implementation of a whole genome sequencing program at a medical check-up unit in Spain.
Palao B et al.
Frontiers in Genetics, 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
A Lithuanian Case of Tyrosinemia Type 1 with a Literature Review: A Rare Cause of Acute Liver Failure in Childhood.
Rokaitė R et al.
Medicina (kaunas, Lithuania), 2024
Profiling genetic variants in cardiovascular disease genes among a Heterogeneous cohort of Mendelian conditions patients and electronic health records.
Akawi N et al.
Frontiers in Molecular Biosciences, 2024
Maleic acid is a biomarker for maleylacetoacetate isomerase deficiency; implications for newborn screening of tyrosinemia type 1.
van Vliet K et al.
Journal of Inherited Metabolic Disease, 2023
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
Identification and functional characterization of a novel homozygous intronic variant in the fumarylacetoacetate hydrolase gene in a Chinese patient with tyrosinemia type 1.
Chen J et al.
Bmc Medical Genomics, 2022
Initial presentation, management and follow-up data of 33 treated patients with hereditary tyrosinemia type 1 in the absence of newborn screening.
Hajji H et al.
Molecular Genetics and Metabolism Reports, 2022
Real-World Results from Combined Screening for Monogenic Genomic Health Risks and Reproductive Risks in 300 Adults.
Wildin RS et al.
Journal of Personalized Medicine, 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
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
Phenotype, genotype, and outcome of 25 Palestinian patients with hereditary tyrosinemia type 1.
Dweikat I et al.
Metabolism Open, 2021
Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses.
Tangeraas T et al.
International Journal of Neonatal Screening, 2020
Clinical experience with carrier screening in a general population: support for a comprehensive pan-ethnic approach.
Westemeyer M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Diagnostic contribution of metabolic workup for neonatal inherited metabolic disorders in the absence of expanded newborn screening.
Bower A et al.
Scientific Reports, 2019
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Evolution of tyrosinemia type 1 disease in patients treated with nitisinone in Spain.
Couce ML et al.
Medicine, 2019
Presence of three mutations in the fumarylacetoacetate hydrolase gene in a patient with atypical symptoms of hereditary tyrosinemia type I.
Morrow G et al.
Molecular Genetics and Metabolism, 2019
Identification of candidate cancer predisposing variants by performing whole-exome sequencing on index patients from BRCA1 and BRCA2-negative breast cancer families.
Shahi RB et al.
Bmc Cancer, 2019
Diagnosis and the importance of early treatment of tyrosinemia type 1: A case report.
Škaričić A et al.
Clinical Mass Spectrometry (del Mar, Calif.), 2019
The Unique Spectrum of Mutations in Patients with Hereditary Tyrosinemia Type 1 in Different Regions of the Russian Federation.
Baydakova GV et al.
Jimd Reports, 2019
Inborn Errors of Metabolism with Hepatopathy: Metabolism Defects of Galactose, Fructose, and Tyrosine.
Demirbas D et al.
Pediatric Clinics of North America, 2018
A next-generation newborn screening pilot study: NGS on dried blood spots detects causal mutations in patients with inherited metabolic diseases.
Boemer F et al.
Scientific Reports, 2017
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
Biochemical and Clinical Aspects of Hereditary Tyrosinemia Type 1.
Morrow G et al.
Advances in Experimental Medicine and Biology, 2017
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
A Case Report of a Very Rare Association of Tyrosinemia type I and Pancreatitis Mimicking Neurologic Crisis of Tyrosinemia Type I.
Uçar HK et al.
Balkan Medical Journal, 2016
Prenatal Diagnosis of Tyrosinemia Type 1 Using Next Generation Sequencing.
Rafati M et al.
Fetal and Pediatric Pathology, 2016
Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism.
Yubero D et al.
Plos One, 2016
Infants with Tyrosinemia Type 1: Should phenylalanine be supplemented?
van Vliet D et al.
Jimd Reports, 2015
Geographical and Ethnic Distribution of Mutations of the Fumarylacetoacetate Hydrolase Gene in Hereditary Tyrosinemia Type 1.
Angileri F et al.
Jimd Reports, 2015
Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.
Caminsky N et al.
F1000research, 2014
The fate of tyrosinaemic Hungarian patients before the NTBC aera.
László A et al.
Ideggyogyaszati Szemle, 2013
An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals.
Lazarin GA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2013
Identification of Novel Mutations in FAH Gene and Prenatal Diagnosis of Tyrosinemia in Indian Family.
Sheth JJ et al.
Case Reports in Genetics, 2012
Clinical outcome of hepatocyte transplantation in four pediatric patients with inherited metabolic diseases.
Ribes-Koninckx C et al.
Cell Transplantation, 2012
Tyrosinemia type 1 in Spain: mutational analysis, treatment and long-term outcome.
Couce ML et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 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
Maternal and fetal tyrosinemia type I.
Garcia Segarra N et al.
Journal of Inherited Metabolic Disease, 2010