Published: 2016-08-15



Alpha-fucosidosis – Two brothers presenting with dysostosis multiplex

Rimshah Shaukat, Syed Musa Raza, Zabedah Md. Yuns, Affandi Omar, Bushra Afroze

243–246



Abetalipoproteinemia: A novel mutation of microsomal triglyceride transfer protein (MTP) gene in a young Tunisian patient

Hager Barakizou, Souha Gannouni, Khalil Messaoui, Mathilde Difilippo, Agnes Sassolas, Fethi Bayoudh

251–254




Phenotypic and molecular genetic analysis of Pyruvate Kinase deficiency in a Tunisian family

Jaouani Mouna, Hamdi Nadia, Chaouch Leila, Kalai Miniar, Mellouli Fethi, Darragi Imen, Boudriga Imen, Chaouachi Dorra, Bejaoui Mohamed, Abbes Salem

265–270


Polymorphism in leptin receptor gene was associated with obesity in Yogyakarta, Indonesia

Pramudji Hastuti, Izza Zukhrufia, Made Harumi Padwaswari, Afifah Nuraini, Ahmad Hamim Sadewa

271–276


Wolman disease in patients with familial hemophagocytic lymphohistiocytosis (FHL) negative mutations

Solaf Elsayed, Ezzat Elsobky, Azza Tantawy, Eman Ragab, Marine Gil, Nathalie Lambert, Geneviéve de Saint Basile

277–280





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eISSN: 1110-8630