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  1. Article

    Open Access

    The mutational spectrum of hunter syndrome reveals correlation between biochemical and clinical profiles in Tunisian patients

    Mucopolysaccharidosis type II (MPS II) or Hunter syndrome is an X-linked recessive lysosomal storage disorder resulting from deficient activity of iduronate 2-sulfatase (IDS) and the progressive lysosomal accu...

    L Chkioua, O Grissa, N Leban, M Gribaa, H Boudabous, H Ben Turkia… in BMC Medical Genetics (2020)

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  2. No Access

    Article

    Phenotypic continuum of type 2 Gaucher's disease: an intermediate phenotype between perinatal-lethal and classic type 2 Gaucher's disease

    The natural history and clinical presentation of the perinatal-lethal Gaucher's disease, a severe variant of acute type 2 Gaucher's disease, is quite different from classic type 2 Gaucher's disease. Rare repor...

    H Ben Turkia, N Tebib, H Azzouz, M S Abdelmoula, A Ben Chehida… in Journal of Perinatology (2009)

  3. No Access

    Article

    Glycogen storage disease type I in Tunisia: An epidemiological analysis

    Objective: Analysis of epidemiological data concerning GSD I in Tunisia. Subjects and methods: All the cases diagnosed as GSD I between 1992 and 2005 in a paediatric department recruiting all the metabolic diseas...

    A. Ben Chehida, N. Tebib, W. Cherif… in Journal of Inherited Metabolic Disease (2008)

  4. No Access

    Article

    Phenotypic spectrum of fucosidosis in Tunisia

    Fucosidosis (OMIM 230000) is a rare autosomal recessive lysosomal disorder due to deficient α-l-fucosidase activity(EC 3.2.1.51), leading to the accumulation of fucose-containing glycolipids and glycoproteins in ...

    H. Ben Turkia, N. Tebib, H. Azzouz… in Journal of Inherited Metabolic Disease (2008)

  5. No Access

    Article

    Mutation spectrum of glycogen storage disease type Ia in Tunisia: Implication for molecular diagnosis

    Glycogen storage disease type Ia (GSD Ia; OMIM 232200) is an autosomal recessive disorder of glycogen metabolism caused by a deficiency of the microsomal glucose-6-phosphatase (G6Pase). It is characterized by ...

    E. Barkaoui, W. Cherif, N. Tebib, C. Charfeddine… in Journal of Inherited Metabolic Disease (2007)