Search Results - "KHEDHIRI, S"

Mutations and polymorphisms in N-acetylgalactosamine-6-sulfate sulfatase gene in Turkish Morquio A patients by Khedhiri, S., Chkioua, L., Elcioglu, N., Laradi, S., Miled, A.

“…Mucopolysaccharidosis type IVA (MPS IVA) is an autosomal recessive inherited metabolic disease resulting from deficiency of N-acetylgalactosamine-6-sulfatase…”
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Mucopolysaccharidosis IVA within Tunisian patients: Confirmation of the two novel GALNS gene mutations by Khedhiri, S., Chkioua, L., Bouzidi, H., Dandana, A., Ferchichi, S., Ben Turkia, H., Miled, A., Laradi, S.

“…Mucopolysaccharidosis type IVA or Morquio A disease is an autosomal recessive disease resulting from a deficiency of the lysosomal enzyme…”
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Mucopolysaccharidosis I: α‐L‐Iduronidase mutations in three Tunisian families by Laradi, S., Tukel, T., Erazo, M., Shabbeer, J., Chkioua, L., Khedhiri, S., Ferchichi, S., Chaabouni, M., Miled, A., Desnick, R. J.

“…Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disease resulting from the defective activity of the enzyme α‐L‐iduronidase (IDUA). The disease has…”
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Mucopolysaccharidosis type I: identification of alpha-L-iduronidase mutations in Tunisian families by Chkioua, L, Khedhiri, S, Jaidane, Z, Ferchichi, S, Habib, S, Froissart, R, Bonnet, V, Chaabouni, M, Dandana, A, Jrad, T, Limem, H, Maire, I, Abdelhedi, M, Laradi, S

“…Mucopolysaccharidosis type I (MPS I) is a lysosomal disease due to mutations in the gene encoding alpha-l-iduronidase (IDUA) leading to variable clinical…”
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Mucopolysaccharidoses type I and IVA: Clinical features and consanguinity in Tunisia by Khedhiri, S., Chkioua, L., Bouzidi, H., Dandana, A., Ben Turkia, H., Miled, A., Laradi, S.

“…Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders caused by the deficiency of specific enzymes which leads to the lysosomal accumulation…”
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Mucopolysaccharidosis IVA (Morquio A syndrome): clinical, biological and therapeutic aspects by Bouzidi, H, Khedhiri, S, Laradi, S, Ferchichi, S, Daudon, M, Miled, A

“…Mucopolysaccharidosis IVA (MPS IVA; Morquio A disease) is an autosomal recessive lysosomal storage disorder caused by a genetic deficiency of the…”
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Biochemical and molecular diagnosis of Gaucher disease in Tunisia by Dandana, A, Ferchichi, S, Khedhiri, S, Chkioua, L, Jaidane, Z, Monastiri, K, Ben Khelifa, S, Ben Mansour, R, Maire, I, Froissart, R, Bonnet, V, Laradi, S, Miled, A

“…Our study was carried out at a family from the Sahel (Tunisia). The father (index case) and his two children (son and daughter). The father…”
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Clinical, biologic and molecular characteristics of two Tunisian MPS IV A patients by Khedhiri, S, Chkioua, L, Ferchichi, S, Bouzidi, H, Haj Khelil, A, Ben Mansour, R, Kassab, A, M'dallah, S, Chaabouni, M, Jrad, T, Ben Chibani, J, Miled, A, Laradi, S

“…Mucopolysaccharidosis type IV A (MPS IV A) is an autosomal recessive disorder resulting from the deficient activity of the lysosomal enzyme,…”
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Diagnostic strategy of mucopolysaccharidosis type I in Tunisia by Chkioua, L, Ferchichi, S, Khedhiri, S, Laradi, S, Bibi, A, Amira, D, Dandana, A, Ben Mansour, R, Ben Limam, H, Chaabouni, M, Froissart, R, Maire, I, Miled, A

“…A Tunisian patient affected by mucopolysaccharidosis (MPS) was investigated for a biological analysis (quantitative and qualitative glycosaminoglycans (GAG)…”
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La mucopolysaccharidose de type I : identification des mutations du gène alpha-L-iduronidase dans des familles tunisiennes by Chkioua, L., Khedhiri, S., Jaidane, Z., Ferchichi, S., Habib, S., Froissart, R., Bonnet, V., Chaabouni, M., Dandana, A., Jrad, T., Limem, H., Maire, I., Abdelhedi, M., Laradi, S.

“…La mucopolysaccharidose de type I (MPS I) est une maladie de surcharge lysosomale, due au déficit en α-L-iduronidase (IDUA). C'est une maladie grave avec un…”
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Alternative Tests for Parameter Stability by Khedhiri, Sami

“…We propose new tests for parameter stability based on estimates computed from a sequence of subsamples moving forward and backward across the sample. We obtain…”
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Prenatal diagnosis of the Hurler syndrome by microsatellite markers analysis by Chkioua, L., Ferchichi, S., Khedhiri, S., Jaidane, Z., Chahed, H., Wesleti, S., Froissart, R., Maire, I., Laradi, S., Miled, A.

“…Hurler's syndrome or mucopolysaccharidosis type IH (MPS IH) is the most severe form of mucopolysaccharidosis type I (MPS I). It is caused by the deficiency of…”
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Mucopolysaccharidosis I: [alpha]-L-Iduronidase mutations in three Tunisian families by Laradi, S, Tukel, T, Erazo, M, Shabbeer, J, Chkioua, L, Khedhiri, S, Ferchichi, S, Chaabouni, M, Miled, A, Desnick, R J

“…Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disease resulting from the defective activity of the enzyme α-L-iduronidase (IDUA). The disease has…”
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Prenatal diagnosis of the Hurler syndrome by microsatellite markers analysis by CHKIOUA, L, FERCHICHI, S, KHEDHIRI, S, JAIDANE, Z, CHAHED, H, WESLETI, S, FROISSART, R, MAIRE, I, LARADI, S, MILED, A

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