Associated Papers
A False-Negative Newborn Screen for Tyrosinemia Type 1-Need for Re-Evaluation of Newborn Screening with Succinylacetone.
Dijkstra AM et al.
International Journal of Neonatal Screening, 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
36369907 (PubMed )
Supplement: MGG3-11-e2090-s001.xlsx › Sheet1
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
35800472 (PubMed )
Supplement: mmc4.docx
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
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
26206375 (PubMed )
Supplement: 12859_2015_673_MOESM2_ESM.xls › Sheet1
Geographical and Ethnic Distribution of Mutations of the Fumarylacetoacetate Hydrolase Gene in Hereditary Tyrosinemia Type 1.
Angileri F et al.
Jimd Reports, 2015
A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report.
Cassiman D et al.
Orphanet Journal of Rare Diseases, 2009
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