Genetic and Metabolic Disorders

All Items

• Acute dyspnea in a child. What is your diagnosis?

  M Beji, M Jouili, N Jammeli, S Ben Wannes, M Ouederni, B Mahjoub (Author)

  43-45

• An Exceptional Cause of Diffuse Interstitial Pneumonia in Children: Genetic Pulmonary Alveolar Proteinosis

  L Beddi, K Larbi Ouassou, A Hassani, H Ourrai, M Kmari, N Dini, R Abilkassem, A Agader (Author)

  36-39

• Genetic testing in childhood epilepsy: what tests to send, whom to test, and why to test?

  B Tabarki (Author)

  21-25

• Schwartz Jampel Syndrome: A case report

  E Trabelsi, I Bel Hadj, I Trabelsi, K Boussetta (Author)

  34-37

• Hémosidérose pulmonaire révélant un déficit en HLA classe II chez un nourrisson de 9 mois

  L Beddi, A Hassani, I Hasbaoui, C Nahi, A Radi, M Kmari, A Ourrai, R Abilkassem, A Agader (Author)

  29-33

• Le syndrome d'Omenn : à propos de 3 observations

  I Maaloul, O Kechaw, F Charfi, N Mekki, I Ben Mustapha, T Kamoun (Author)

  28-31

• Epilepsy and mental retardation in Bourneville Tuberous Sclerosis in Abidjan (Côte d'Ivoire): Report of 4 observations and review of the literature

  R Azagoh-Kouadio, JE Enoh, KC Sindé, PMF Touré Kiffon, GL Couitchere, KV Assé (Author)

  13-17

• Diagnosis and management of Wilson's disease in children: What's new?

  R Ben Rabeh, O Bouyahia, N Missaoui, S Yahyaoui, S Atitallah, S Mazigh, S Boukthir (Author)

  7-14

• Disorders of sex development in Tunisian children: 15-year experience of a paediatric endocrinology unit

  L Essaddam, J Jendoubi, H Hrizi, R Guedri, Z Fitouri, S Ben Becher (Author)

  28-33

• Classic infantile form of Pompe disease: report of 2 cases

  O Hammami, I Chelly, W Barbaria, H Boudabbous, A Ben Chehida, S Abdelmoula, I Khamassi (Author)

  45-48

• A rare cause of thrombophilia in children: the MTHFR mutation

  F Khalsi, H Hammami, Y Mestiri, S Kebaier, S Hamouda, W Douira, K Boussetta (Author)

  53-55

• Cri du chat syndrome: a study of two Tunisian cases

  I Chelly, M Khemakhem, W Barabaria, F Belhssan, I Khamessi (Author)

  56-59

• Arthrogryposis, renal dysfunction, cholestasis (ARC) syndrome and platelet's abnormalities: about two cases

  S Kmiha, S Ben Ameur, M Chaari, S Jribi, H Elleuch, T Kamoun, I Maaloul (Author)

  54-56

• Unusual presentation of Wilson's disease in children: recurrent gross hematuria

  R Ben Rabeh, A Ben Ismail, O Bouyahia, N Missaoui, S Atitallah, S Yahyaoui, S Mazigh, S Boukthir (Author)

  47-49

• Case report: practical management of hepatopathy in Turner syndrome

  F Hadj Kacem, O Trimeche, W Saafi, W Belaabed, M Elleuch, D Ben Salah, F Mnif, N Charfi, N Rekik, M Mnif, M Abid (Author)

  60-63

• Insights into Turner's syndrome

  F Hadj Kacem, O Trimeche, W Belabed, N Rekik, M Elleuch, D Ben Salah, F Mnif, N Charfi, M Hachicha, Th Kammoun, M Mnif, M Abid (Author)

  7-14

• Chediak-Higashi syndrome: a new Tunisian case report

  R Belhaj, I Chabchoub, H Charfi, M Chaari, L Ayadi, S Ben Ameur, Ch Kallel, T Boudaoura, Th Kammoun (Author)

  39-44

• Congenital chloride diarrhea: a case report

  A Ismail, A Houcème, I Ayadi, M Ben Ali, E Ben Hamida (Author)

  54-55

• Progressive intrahepatic cholestasis type 2 and citrin deficiency with a novel mutation: a case report

  I Maaloul, M Bahloul, H Aloulou, F Broly, S Ben Ameur, T Kamoun (Author)

  43-44

• Contribution of anatomo-pathological findings in diagnosing Zellweger Syndrome in two hypotonic neonates

  J Methlouthi, M Bouden, S Mestiri, A Khelifi, I Zakhama, S Nouri, O Mghirbi, MT Yacoubi, M Bellalah, N Mahdhaoui (Author)

  34-37

• Une régression psycho motrice chez une adolescente révélatrice d'une acidurie méthyl-malonique : à propos d'un cas

  A Werdani, N Jemmali, A Rassas, R Boussouffara, B Mahjoub (Author)

  38-40

• Adams Oliver Syndrome (AOS): a case report

  LY Fatou, B Niang, Y Keita, ES Fadjri, FD Cissé, A Sakho Kane, FN Sarr, BS Ndiaye, A Sylla, O Ndiaye (Author)

  41-44

• Deficiency of the seventh component of complement in an eight-year-old girl

  A Werdani, A Ben Mabrouk, I Ayadi, N Jemmali, A Rassas, M Kallel Sellami, B Mahjoub (Author)

  50-51

• Contributions and limits of pancreatectomy in hyperinsulinism

  J Ben Hfaiedh, A Ben Chehida, S Ben Mrad, H Boudabous, R Ben Abdallah, R Ben Abdelaziz, H Azzouz, H Ben Turkia, R Ben Malek, N Kaabar, MS Abdelmoula, N Tebib (Author)

  41-46

• Phenotypical diversity in three family members with LEOPARD syndrome caused by Tyr279Cys mutation in PTPN11 gene

  R Ben Aziza, F Mezghani, E Jbebli, L Kraoua, S Rhayem, F Fedhila, R Mrad, S Haddad, M Khemiri (Author)

  56-59