Zobrazeno 1 - 10
of 26
pro vyhledávání: '"Marie Françoise Ben Dridi"'
Autor:
Slim Ben Ammar, Neji Tebib, Farah Ouechtati, Khaled Lasram, Marie Françoise Ben Dridi, Faten Talmoudi, Rym Kefi, Houyem Ouragini, Nizar Ben Halim, Insaf Rejeb, Olfa Messaoud, Asma Walha, Yosra Bouyacoub, Sonia Abdelhak, Mourad Mokni, Ahlem Amouri, Habib Messai, Sana Hsouna, Majdi Nagara, Ahlem Sabrine Ben Brick, Wafa Cherif, Leila El Matri, Faten Ben Rhouma, I. Chouchene, Mariem Ben Rekaya
Publikováno v:
American Journal of Human Biology. 28:171-180
Objectives Consanguinity is common in Tunisia. However, little information exists on its impact on recessive disorders. In this study, we evaluate the impact of consanguineous marriages on the occurrence of some specific autosomal recessive disorders
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4de7f5fa3c497e90f4264cfcb27a3572
https://doi.org/10.1002/ajhb.22764
https://doi.org/10.1002/ajhb.22764
Autor:
Sonia, Halioui-Louhaichi, Amel, Ben Chehida, Rim, Hassouna, Tayeb, Massaoud, Marie Françoise, Ben Dridi, Sihem, Barsaoui, Azza, Gharbi-Sammoud, Neji, Tebib, Ahmed, Maherzi
Publikováno v:
La Tunisie medicale. 93(8-9)
The frequency of cystic fibrosis is unknown in Tunisia, regarding the limited number of reported surveys and patients.to determine the clinical characteristics, outcome and genetic data of cystic fibrosis in Tunisian pediatric patients.Cases of cysti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::d4ae4de84c41c21e89ab1db30af57bfc
https://pubmed.ncbi.nlm.nih.gov/26815526
https://pubmed.ncbi.nlm.nih.gov/26815526
Autor:
Nizar Ben Halim, Sana Hsouna, Habib Messai, Majdi Nagara, Hatem Azzouz, Sihem Ben Fadhel, Mohamed-Tahar Sfar, Sonia Abdelhak, Rym Kefi, Neji Tebib, Wafa Cherif, Marie-Françoise Ben Dridi, Abdelkarim Ayadi, Afaf Tiar, Faten Ben Rhouma
Publikováno v:
Mitochondrial DNA
Mitochondrial DNA, 2016, 27 (5), pp.3194-3198. ⟨10.3109/19401736.2015.1007331⟩
Mitochondrial DNA, 2016, 27 (5), pp.3194-3198. ⟨10.3109/19401736.2015.1007331⟩
International audience; Glycogen storage disease type III (GSD III; Cori disease; Forbes disease) is an autosomal recessive inherited metabolic disorder resulting from deficient glycogen debrancher enzyme activity in liver and muscle. In this study,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e897de6d6a11a6adce2df14b3e532e6
https://pubmed.ncbi.nlm.nih.gov/26704523
https://pubmed.ncbi.nlm.nih.gov/26704523
Autor:
Monia Allal El Asmi, Riadh Jemaa, Jean Louis Dhondt, Moncef Feki, Haifa Sanhaji, Marie Françoise Ben Dridi, Sameh Khemir, Naziha Kaabachi, Neji Tebib, Abderraouf Mebazaa
Publikováno v:
Clinical Neurology and Neurosurgery. 113:727-730
Background and objective Accumulation of phenylalanine following a deficiency of phenylalanine hydroxylase activity generates a brain damage with mental retardation: phenylketonuria (PKU). In the developing countries, where PKU systematic neonatal sc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23d96a240e5ccf0a52b4525ab29b09e5
https://doi.org/10.1016/j.clineuro.2011.07.016
https://doi.org/10.1016/j.clineuro.2011.07.016
Autor:
Ari Zimran, Marie-Françoise Ben Dridi, Clément Olivier, Elena Lukina, Derlis E. Gonzalez, Atul Mehta, Deborah Elstein, Peter Chang
Publikováno v:
Molecular Genetics and Metabolism. 114:S129-S130
CO RR EC TE D P RO OF with type 1 Gaucher disease (GD) in the United States, Israel, Australia, Canada, and other countries, and is approved for treatment of pediatric patients in the United States, Australia, and Canada, and for hematologic manifest
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6c8879d9674644b94b991fe8733dcbb0
https://doi.org/10.1016/j.ymgme.2014.12.297
https://doi.org/10.1016/j.ymgme.2014.12.297
Autor:
Khaled Lasram, Fehmi Nasrallah, Yosra Bouyacoub, Sonia Abdelhak, Marie-Françoise Ben Dridi, Frédéric Parisot, Mariem Ben Khelifa, Neji Tebib, Rym Kefi, François Petit, Hatem Azzouz, Amel Ben Chehida, Faten Ben Rhouma, Lilia Romdhane, Christiane Baussan, Naziha Kaabachi
Publikováno v:
Molecular Biology Reports
Molecular Biology Reports, Springer Verlag, 2013, 40 (7), pp.4197-202. ⟨10.1007/s11033-013-2500-z⟩
Molecular Biology Reports, Springer Verlag, 2013, 40 (7), pp.4197-202. ⟨10.1007/s11033-013-2500-z⟩
International audience; Genetic deficiency of the glycogen debranching enzyme causes glycogen storage disease type III, an autosomal recessive inherited disorder. The gene encoding this enzyme is designated as AGL gene. The disease is characterized b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd30d407a4aff63b74c66a6564688dcc
https://pubmed.ncbi.nlm.nih.gov/23649758
https://pubmed.ncbi.nlm.nih.gov/23649758
Autor:
Isaac Kisinovsky, Eric Crombez, Hadhami Ben Turkia, Norman W. Barton, David Zahrieh, Ari Zimran, Elena Lukina, Derlis E. Gonzalez, Kiran Bhirangi, Marie Françoise Ben Dridi, Deborah Elstein
Publikováno v:
American journal of hematology. 88(3)
Type 1 Gaucher disease (GD1), resulting from glucocerebrosidase deficiency, leads to splenomegaly, hepatomegaly, anemia, thrombocytopenia, and bone involvement. Current standard treatment is enzyme replacement therapy. Velaglucerase alfa is an enzyme
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d81f38dbafd5e377addedac672fc98aa
https://pubmed.ncbi.nlm.nih.gov/23386328
https://pubmed.ncbi.nlm.nih.gov/23386328
Autor:
Neerja Gupta, Kiran Bhirangi, Ari Zimran, Ashish Bavdekar, Madhulika Kabra, Elena Lukina, Priya S. Kishnani, E.K. Sureshkumar, Hadhami Ben Turkia, Atul Mehta, Marie-Françoise Ben Dridi, Isaac Kisinovsky, Norman W. Barton, Pilar Giraldo, Nan Wang, Eric Crombez, Derlis E. Gonzalez
Publikováno v:
American journal of hematology. 88(3)
Enzyme replacement therapy for Gaucher disease (GD) has been available since 1991. This study compared the efficacy and safety of velaglucerase alfa with imiglucerase, the previous standard of care. A 9-month, global, randomized, double-blind, non-in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e551a113e864866511cd4c4ac4cff0ef
https://pubmed.ncbi.nlm.nih.gov/23400823
https://pubmed.ncbi.nlm.nih.gov/23400823
Autor:
Mourad Mokni, Imen Arfa, Sonia Abdelhak, Ahlem Amouri, Salem Kachboura, Faten Talmoudi, Neji Tebib, Nissaf Ben Alaya Bouafif, Marie-Françoise Ben Dridi, Wafa Cherif, Leila El Matri, Yosra Bouyacoub, Saida Ben Arab, Sonia Nouira, Welid Ghazouani, Ibtissem Chouchane, Rym Kefi Ben Atig, Lilia Romdhane, Nizar Ben Halim, Abdelmajid Abid, Khaled Lasram, Sana Hsouna, Hela Azaiez, Koussay Dellagi
Publikováno v:
Journal of community genetics. 4(2)
Consanguinity refers to marriages between individuals who share at least one common ancestor. In clinical genetics, a consanguineous marriage is defined as a union between two individuals who are related as second cousins or closer, with the inbreedi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e9215b718b4d1eccfacce5f6a939419
https://pubmed.ncbi.nlm.nih.gov/23208456
https://pubmed.ncbi.nlm.nih.gov/23208456
Autor:
Neji Tebib, Marie Françoise Ben Dridi, Taieb Massaoud, Wafa Cherif, Sameh Hadj Taieb, Rym Kefi, Sonia Abdelhak, Naziha Khouja, Naziha Kaabachi, Hatem Azzouz, Hajer Siala, Sameh Khemir
Phenylketonuria (PKU; OMIM 261600) is an autosomal recessive disease caused by the liver phenylalanine hydroxylase (PAH) enzyme (EC1.14.16.1) deficiency. If untreated, causes mental retardation. The incidence in Caucasian population is approximately
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::42fe67ed40bde2b27067a6faa8314c1c
https://hal.archives-ouvertes.fr/hal-01358543
https://hal.archives-ouvertes.fr/hal-01358543
