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Egyptian Journal of Medical Human Genetics - Vol 17, No 3 (2016)

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Table of Contents

Articles

Editorial: BH4 deficiency with unusual presentations: Challenges and lessons EMAIL FREE FULL TEXT
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Solaf M Elsayed, Beat Thony 241–242
Alpha-fucosidosis – Two brothers presenting with dysostosis multiplex EMAIL FREE FULL TEXT
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Rimshah Shaukat, Syed Musa Raza, Zabedah Md. Yuns, Affandi Omar, Bushra Afroze 243–246
http://dx.doi.org/10.1016/j.ejmhg.2015.11.004
Challenges in diagnosis and counseling of a family with two recessive neurometabolic disorders EMAIL FREE FULL TEXT
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Heba S Abd-Elkhalek, Radwa Gamal, Osama K Zaki, Solaf M Elsayed 247–250
http://dx.doi.org/10.1016/j.ejmhg.2015.12.005
Abetalipoproteinemia: A novel mutation of microsomal triglyceride transfer protein (MTP) gene in a young Tunisian patient EMAIL FREE FULL TEXT
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Hager Barakizou, Souha Gannouni, Khalil Messaoui, Mathilde Difilippo, Agnes Sassolas, Fethi Bayoudh 251–254
http://dx.doi.org/10.1016/j.ejmhg.2015.12.003
Autosomal recessive ichthyosis with limb reduction defect: A simple association and not CHILD syndrome EMAIL FREE FULL TEXT
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Rabah M Shawky, Solaf M Elsayed, Heba Amgad 255–258
http://dx.doi.org/10.1016/j.ejmhg.2015.08.009
Challenges identified in the management of patients with inherited metabolic disorders – A five year experience from Pakistan EMAIL FREE FULL TEXT
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Bushra Afroze, Laila Lakhani, Farah Naz, Sana Somani, Zabedah Md. Yunus, Nick Brown 259–264
http://dx.doi.org/10.1016/j.ejmhg.2016.03.002
Phenotypic and molecular genetic analysis of Pyruvate Kinase deficiency in a Tunisian family EMAIL FREE FULL TEXT
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Jaouani Mouna, Hamdi Nadia, Chaouch Leila, Kalai Miniar, Mellouli Fethi, Darragi Imen, Boudriga Imen, Chaouachi Dorra, Bejaoui Mohamed, Abbes Salem 265–270
http://dx.doi.org/10.1016/j.ejmhg.2015.09.001
Polymorphism in leptin receptor gene was associated with obesity in Yogyakarta, Indonesia EMAIL FREE FULL TEXT
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Pramudji Hastuti, Izza Zukhrufia, Made Harumi Padwaswari, Afifah Nuraini, Ahmad Hamim Sadewa 271–276
http://dx.doi.org/10.1016/j.ejmhg.2015.12.011
Wolman disease in patients with familial hemophagocytic lymphohistiocytosis (FHL) negative mutations EMAIL FREE FULL TEXT
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Solaf Elsayed, Ezzat Elsobky, Azza Tantawy, Eman Ragab, Marine Gil, Nathalie Lambert, Geneviéve de Saint Basile 277–280
http://dx.doi.org/10.1016/j.ejmhg.2015.08.005
Treatment options for patients with Gaucher disease EMAIL FREE FULL TEXT
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Rabah M Shawky, Solaf M Elsayed 281–285
http://dx.doi.org/10.1016/j.ejmhg.2016.02.001
Aminoglycoside induced ototoxicity associated with mitochondrial DNA mutations EMAIL FREE FULL TEXT
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Joseph Foster II, Mustafa Tekin 287–293
http://dx.doi.org/10.1016/j.ejmhg.2016.06.001
Prevalence of glucose-6-phosphate dehydrogenase deficiency in India: An updated meta-analysis EMAIL FREE FULL TEXT
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Pradeep Kumar, Upendra Yadav, Vandana Rai 295–302


ISSN: 1110-8630
AJOL African Journals Online