Search Results - "Turkia, H Ben"

The mutational spectrum of hunter syndrome reveals correlation between biochemical and clinical profiles in Tunisian patients by Chkioua, L, Grissa, O, Leban, N, Gribaa, M, Boudabous, H, Turkia, H Ben, Ferchichi, S, Tebib, N, Laradi, S

“…Mucopolysaccharidosis type II (MPS II) or Hunter syndrome is an X-linked recessive lysosomal storage disorder resulting from deficient activity of iduronate…”
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Molecular characterization of MPS IIIA, MPS IIIB and MPS IIIC in Tunisian patients by Ouesleti, S., Brunel, V., Turkia, H. Ben, Dranguet, H., Miled, A., Miladi, N., Dridi, M.F. Ben, Lavoinne, A., Saugier-Veber, P., Bekri, S.

“…Sanfilippo syndrome (mucopolysaccharidosis type III, MPS III) is a progressive disorder in which patients are characterized by severe central nervous system…”
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Phenotypic spectrum of fucosidosis in Tunisia by Turkia, H. Ben, Tebib, N., Azzouz, H., Abdelmoula, M. S., Bouguila, J., Sanhaji, H., Miladi, N., Maire, I., Caillaud, C., Kaabachi, N., Ben Dridi, M. F.

“…Summary 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…”
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Phenotypic continuum of type 2 Gaucher's disease: an intermediate phenotype between perinatal-lethal and classic type 2 Gaucher's disease by Ben Turkia, H, Tebib, N, Azzouz, H, Abdelmoula, M S, Ben Chehida, A, Caillaud, C, Ben Dridi, M F

“…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…”
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Glycogen storage disease type I in Tunisia: An epidemiological analysis by Chehida, A. Ben, Tebib, N., Cherif, W., Turkia, H. Ben, Abdelmoula, S., Azzouz, H., Ben Dridi, M. F.

“…Summary Objective: Analysis of epidemiological data concerning GSD I in Tunisia. Subjects and methods: All the cases diagnosed as GSD I between 1992 and 2005…”
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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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Mutation spectrum of glycogen storage disease type Ia in Tunisia: Implication for molecular diagnosis by Barkaoui, E, Cherif, W, Tebib, N, Charfeddine, C, Ben Rhouma, F, Azzouz, H, Ben Chehida, A, Monastiri, K, Chemli, J, Amri, F, Ben Turkia, H, Abdelmoula, M. S, Kaabachi, N, Abdelhak, S, Ben Dridi, M. F

“…Glycogen storage disease type Ia (GSD Ia; OMIM 232200) is an autosomal recessive disorder of glycogen metabolism caused by a deficiency of the microsomal…”
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Rosai-Dorfman disease: therapeutic issues in 2 cases by Ben Turkia, H, Ben Romdhane, M, Azzouz, H, Ben Chehida, A, Slim Abdelmoula, M, Benabdelaziz, R, Tebib, N, Ben Messaoud, M, Sahtout, S, Chelly, I, Zitouna, M, Mnif, E, Ben Dridi, M F

“…Rosai-Dorfman disease (RDD) is a benign lymphoproliferative disorder characterized by cervical lymph node enlargement with a consistent risk of airway…”
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Molecular diagnosis of Gaucher disease in Tunisia by Cherif, W, Ben Turkia, H, Ben Rhouma, F, Riahi, I, Chemli, J, Amaral, O, Sá Miranda, M C, Caillaud, C, Kaabachi, N, Tebib, N, Abdelhak, S, Ben Dridi, M F

“…Gaucher disease is a lysosomal storage disorder caused by a deficiency of the enzyme acid β-glucosidase. In order to determine the mutation spectrum in…”
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Congenital generalized lipodystrophy: a case report with neurological involvement by Ben Turkia, H, Tebib, N, Azzouz, H, Abdelmoula, M Slim, Ben Chehida, A, Hubert, P, Douira, W, Ben Dridi, M F

“…Congenital generalized lipodystrophy (CGL) is a rare disorder characterized by near complete absence of adipose tissue from birth. At least 2 genes located in…”
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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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Étude moléculaire du gène ABCD1  chez 4 familles tunisiennes atteintes d’adrénoleucodystrophie by Kallabi, F, Ellouz, E, Ben Chehida, A, Ben Turkia, H, Ben Salah, G, Fakhfakh, F, Kamoun, H

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La maladie de Rosai – Dorfman : enjeux thérapeutiques à propos de 2 observations by Ben Turkia, H., Ben Romdhane, M., Azzouz, H., Ben Chehida, A., Slim Abdelmoula, M., Benabdelaziz, R., Tebib, N., Ben Messaoud, M., Sahtout, S., Chelly, I., Zitouna, M., Mnif, E., Ben Dridi, M.F.

“…La maladie de Rosai-Dorfman est un désordre lymphoprolifératif bénin caractérisé par des adénopathies superficielles massives, le plus souvent cervicales,…”
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Diagnostic moléculaire de la maladie de Gaucher en Tunisie by Cherif, W., Ben Turkia, H., Ben Rhouma, F., Riahi, I., Chemli, J., Amaral, O., Sá Miranda, M.C., Caillaud, C., Kaabachi, N., Tebib, N., Abdelhak, S., Ben Dridi, M.F.

“…La maladie de Gaucher est une maladie de surcharge lysosomale due à un déficit de l’enzyme β-glucosidase. Afin d’étudier le spectre mutationnel de cette…”
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Lipodystrophie congénitale généralisée de type 1 avec atteinte neurologique by Ben Turkia, H., Tebib, N., Azzouz, H., Slim Abdelmoula, M., Ben Chehida, A., Hubert, P., Douira, W., Ben Dridi, M.F.

“…La lipodystrophie congénitale généralisée est un syndrome rare caractérisé par l’absence complète de tissu adipeux depuis la naissance. Au moins 2 gènes…”
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Neonatal cholestasis in an intermediate phenotype of type 2 Gaucher disease by Ben Turkia, H, Tebib, N, Kasdallah, N, Abdelmoula, M S, Azzouz, H, Ben Chehida, A, Caillaud, C, Ben Dridi, M F

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Cholestase néonatale révélatrice d’un phénotype intermédiaire d’une maladie de Gaucher type 2 by Ben Turkia, H., Tebib, N., Kasdallah, N., Abdelmoula, M.S., Azzouz, H., Chehida, A. Ben, Caillaud, C., Ben Dridi, M.F.

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Les maladies héréditaires du métabolisme en Tunisie: défis, acquis, espoirs by Ben Dridi, M.-F., Ben Turkia, H., Azzouz, H., Ben Chehida, A., Ben Abdelaziz, R., Tebib, N.

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P-332 – La maladie de Gaucher type 2: hétérogénéité et continuum phénotypique by Boudabous, H., Jlassi, M., Ben Chehida, A., Ben Abdelaziz, R., Azzouz, H., Caillaud, C., Ben Turkia, H., Tebib, N.

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P-405 – Étude de 10 cas pédiatriques de Maladie de Wilson: Quelles difficultés? by Ben Chehida, A., Besbes, T., Bouslah, M., Ben Abdelaziz, R., Ben Rehouma, F., Azzouz, H., Boudabous, H., Abdelmoula, M.S., Abdelhak, S., Ben Turkia, H., Tebib, N.

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