publications

Article

Clinical and Biochemical Profile of Tyrosinemia Type 1 in Tunisia

Azouz Hatem, FEKI Moncef, HAMMAMI Bassem, KAABACHI Naziha, Messoued Taieb, Nasrallah Fahmi, OMAR Souheil, Tebib Neji, 2017

Clin. Lab, 487-92, 2015;61, 5-6, Avril 2017

Résumé

Hereditary tyrosinemia type 1 (HT1) is an autosomal recessive disease caused by a defect of fumarylacetoacetate hydrolase. This study aimed to estimate the prevalence of HT1 in Tunisia and report its clinical, biochemical and genetic features.