Hurler disease (mucopolysaccharidosis type IH): clinical features and consanguinity in Tunisian population

Author:

Chkioua Latifa,Khedhiri Souhir,Ben Turkia Hadhami,Chahed Henda,Ferchichi Salima,Ben Dridi Marie Françoise,Laradi Sandrine,Miled Abdelhedi

Publisher

Springer Science and Business Media LLC

Subject

General Medicine,Histology,Pathology and Forensic Medicine

Reference22 articles.

1. Neufeld EF, Muenzer J: The mucopolysaccharidoses. The Metabolic and Molecular Bases of Inherited Disease. Edited by: Scriver CR, Beaudet AL, Sly WS, Valle D. 2002, McGraw-Hill, New York, 2421-3452. 8

2. Romdhane L, Abdelhak S: Genetic diseases in the Tunisian population. Am J Med Genet A. 2011, 155: 238-67. 10.1002/ajmg.a.33771.

3. Haj Khelil A, Laradi S, Miled A, Tadmouri GO, Ben Chibani J, Perrin P: Clinical and molecular aspects of hemoglobinopathies in Tunisia. Clin Chim Acta. 2004, 340: 127137-

4. Messaoud T, Bel Haj Fredj S, Bibi A, Elion J, Férec C, Fattoum S: Molecular epidemiology of cystic fibrosis in Tunisia. Ann Biol Clin. 2005, 63: 627-630.

5. Laradi S, Monastiri K, Ferchichi S, Nabli N, Aouini Rea P, Ben Limam H, Ben Mansour R, Bousoffara R, Yacoub M, Froissart R, Miled A, Maire I: Clinico-biologic and molecular study of mucopolysaccharidosis in central and southern Tunisia. Ann Biol Clin. 2001, 59: 100-4.

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3. Novel splice site IDUA gene mutation in Tunisian pedigrees with hurler syndrome;Diagnostic Pathology;2018-05-29

4. Genetics and genomic medicine in Tunisia;Molecular Genetics & Genomic Medicine;2018-03

5. Genetics of consanguinity and inbreeding in health and disease;Annals of Human Biology;2016-12-14

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