Molecular investigation of distal renal tubular acidosis in Tunisia, evidence for founder mutations

Autor: Nagara, Majdi, Voskarides, Konstantinos, Nouira, S., Ben Halim, N., Kefi Ben Atig, Rym, Aloulou, Hajer, Romdhane, L., Ben Abdallah, R., Ben Rhouma, F., Aissa, K., Boughamoura, L., Kammoun, T., Azzouz, H., Abroug, S., Ben Turkia, H., Ayadi, A., Mrad, R., Chabchoub, I., Hachicha, M., Chemli, J., Constantinou-Deltas, Constantinos D., Abdelhak, S.

Publikováno v: Genetic Testing and Molecular Biomarkers
Genetic Testing and Molecular Biomarkers, Mary Ann Liebert, Inc., 2014, 18 (11), pp.741-748. ⟨10.1089/gtmb.2014.0175⟩
Genetic testing and molecular biomarkers
Genet Test Mol Biomarkers

BACKGROUND: Distal renal tubular acidosis (dRTA) is a rare genetic disease caused by mutations in different genes involved in the secretion of H+ ions in the intercalated cells of the collecting duct. Both autosomal dominant and recessive forms have

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4097a059cee463f17d7977e480d54200
https://pubmed.ncbi.nlm.nih.gov/25285676

Diagnostic moléculaire de la maladie de Gaucher en Tunisie

Autor: 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.

Publikováno v: Pathologie Biologie
Pathologie Biologie, Elsevier Masson, 2012, 61 (2), pp.59-63. ⟨10.1016/j.patbio.2012.03.006⟩

International audience; 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 Tunisia, we performed recurrent mutation screening in 30 Tunisian patient

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::cb8ef75ee745f2f2e1af0efa0db69316
https://hal-riip.archives-ouvertes.fr/pasteur-00733195

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

Autor: 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, S, Kaabachi, N, Abdelhak, S, Ben Dridi, M F, Barkaoui, H, Cherif, C

Publikováno v: Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease, Springer Verlag, 2007, 30 (6), pp.989. ⟨10.1007/s10545-007-0737-1⟩

International audience; 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 short stature, he

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2bb609f7b5a994fa7f20af316e3c7673
https://pubmed.ncbi.nlm.nih.gov/18008183

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