Associated Papers
Hereditary tyrosinaemia type 1 in the absence of succinylacetone: 4-oxo 6-hydroxyhepanoate (4OHHA), a putative diagnostic biomarker.
Rehsi P et al.
Jimd Reports, 2024
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
Genetic Analysis of Tyrosinemia Type 1 and Fructose-1, 6 Bisphosphatase Deficiency Affected in Pakistani Cohorts.
Yasir Zahoor M et al.
Fetal and Pediatric Pathology, 2020
Protein Degradation and the Pathologic Basis of Phenylketonuria and Hereditary Tyrosinemia.
Sarodaya N et al.
International Journal of Molecular Sciences, 2020
Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility.
Cheema H et al.
Npj Genomic Medicine, 2020
33083013 (PubMed )
Supplement: 41525_2020_150_MOESM1_ESM.pdf
Evolution of tyrosinemia type 1 disease in patients treated with nitisinone in Spain.
Couce ML et al.
Medicine, 2019
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
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 screening for tyrosinaemia type I.
Heath SK et al.
Journal of Inherited Metabolic Disease, 2002
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