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Egyptian Journal of Medical Human Genetics

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The Journal publishes papers reporting original investigations in the field of human and medical genetics. The scope of the journal includes biochemical, cell biological, molecular genetics and structural biological studies of enzyme and other protein deficiencies, and fundamental investigations of the pathogenesis of inherited and acquired disorders. In addition to basic investigations, practical advances in the biochemical and molecular diagnoses of human diseases will be considered valuable contributions

Abstracts and journal information can be found at http://www.ejmhg.eg.net


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
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
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
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
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
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
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
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
Treatment options for patients with Gaucher disease EMAIL FREE FULL TEXT
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Rabah M Shawky, Solaf M Elsayed 281–285
Aminoglycoside induced ototoxicity associated with mitochondrial DNA mutations EMAIL FREE FULL TEXT
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Joseph Foster II, Mustafa Tekin 287–293
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


The Egyptian Journal Of Medical Human Genetics.   ISSN: 1110-8630
AJOL African Journals Online