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pro vyhledávání: '"Aida Mtar"'
Autor:
Khalifa Limem, Souhir Neffati, Zouhaier Bourfifa, Mohamed Ali Smach, Bassem Charfeddine, Monia Ksouri, Imen Braham, Hedi Dridi, Aida Mtar, Jihene Ben Abdallah
Publikováno v:
Annales de biologie clinique. 69:693-697
The Maroteaux-Lamy disease, or mucopolysaccharidosis type VI is an inherited metabolic disorder severe and rare. It is caused by a deficiency of the enzyme arylsulfatase B. It is characterized by a heterogeneous clinical, radiological and genetic. We
Autor:
Imene, Braham, Bassem, Charfeddine, Leila, Ben Othmene, Souhir, Neffati, Aida, Mtar, Jihene, Ben Abdallah, Med, Ali Smach, Hedi, Dridi, Khalifa, Limem
Publikováno v:
Annales de biologie clinique. 70(1)
Congenital galactosemia is a hereditary, autosomal recessive and metabolic disease. It is linked to an enzyme deficiency, more commonly known by the deficiency of galactose-1- phosphate uridyltransferase (GALT), which is responsible for an accumulati