Associated Papers
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
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
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
Type 1 tyrosinemia in Finland: a nationwide study.
Äärelä L et al.
Orphanet Journal of Rare Diseases, 2020
Protein Degradation and the Pathologic Basis of Phenylketonuria and Hereditary Tyrosinemia.
Sarodaya N et al.
International Journal of Molecular Sciences, 2020
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
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
Geographical and Ethnic Distribution of Mutations of the Fumarylacetoacetate Hydrolase Gene in Hereditary Tyrosinemia Type 1.
Angileri F et al.
Jimd Reports, 2015
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
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
Identification of Novel Mutations in FAH Gene and Prenatal Diagnosis of Tyrosinemia in Indian Family.
Sheth JJ et al.
Case Reports in Genetics, 2012
Hypermethioninemias of genetic and non-genetic origin: A review.
Mudd SH
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2011
Mutation spectrum of fumarylacetoacetase gene and clinical aspects of tyrosinemia type I disease.
Dursun A et al.
Jimd Reports, 2011
Severe neurological crisis in a patient with hereditary tyrosinaemia type I after interruption of NTBC treatment.
Schlump JU et al.
Journal of Inherited Metabolic Disease, 2008
Current strategies for the treatment of hereditary tyrosinemia type I.
Ashorn M et al.
Paediatric Drugs, 2006
A minor alternative transcript of the fumarylacetoacetate hydrolase gene produces a protein despite being likely subjected to nonsense-mediated mRNA decay.
Dreumont N et al.
Bmc Molecular Biology, 2005
Cytoplasmic nonsense-mediated mRNA decay for a nonsense (W262X) transcript of the gene responsible for hereditary tyrosinemia, fumarylacetoacetate hydrolase.
Dreumont N et al.
Biochemical and Biophysical Research Communications, 2004
Hereditary tyrosinaemia type I: from basics to progress in treatment.
Pitkänen ST et al.
Annals of Medicine, 2000
Genotyping of a case of tyrosinaemia type I with normal level of succinylacetone in amniotic fluid.
Poudrier J et al.
Prenatal Diagnosis, 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
Mutation analysis for prenatal diagnosis of hereditary tyrosinaemia type 1.
Mustonen A et al.
Prenatal Diagnosis, 1997
Mutations in the fumarylacetoacetate hydrolase gene causing hereditary tyrosinemia type I: overview.
St-Louis M et al.
Human Mutation, 1997
Simple detection of a (Finnish) hereditary tyrosinemia type 1 mutation.
St-Louis M et al.
Human Mutation, 1996
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
Novel splice, missense, and nonsense mutations in the fumarylacetoacetase gene causing tyrosinemia type 1.
Rootwelt H et al.
American Journal of Human Genetics, 1994
Identification of a stop mutation in five Finnish patients suffering from hereditary tyrosinemia type I.
St-Louis M et al.
Human Molecular Genetics, 1994