Vol. 17 No. 3 (2016) | Egyptian Journal of Medical Human Genetics

Editorial: BH4 deficiency with unusual presentations: Challenges and lessons

Solaf M Elsayed, Beat Thony

241–242

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Alpha-fucosidosis – Two brothers presenting with dysostosis multiplex

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

243–246

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Challenges in diagnosis and counseling of a family with two recessive neurometabolic disorders

Heba S Abd-Elkhalek, Radwa Gamal, Osama K Zaki, Solaf M Elsayed

247–250

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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

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Autosomal recessive ichthyosis with limb reduction defect: A simple association and not CHILD syndrome

Rabah M Shawky, Solaf M Elsayed, Heba Amgad

255–258

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Challenges identified in the management of patients with inherited metabolic disorders – A five year experience from Pakistan

Bushra Afroze, Laila Lakhani, Farah Naz, Sana Somani, Zabedah Md. Yunus, Nick Brown

259–264

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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

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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

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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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Treatment options for patients with Gaucher disease

Rabah M Shawky, Solaf M Elsayed

281–285

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Aminoglycoside induced ototoxicity associated with mitochondrial DNA mutations

Joseph Foster II, Mustafa Tekin

287–293

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Prevalence of glucose-6-phosphate dehydrogenase deficiency in India: An updated meta-analysis

Pradeep Kumar, Upendra Yadav, Vandana Rai

295–302

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Egyptian Journal of Medical Human Genetics
Journal / Egyptian Journal of Medical Human Genetics / Vol. 17 No. 3 (2016) / Articles

Articles

Editorial: BH4 deficiency with unusual presentations: Challenges and lessons

Alpha-fucosidosis – Two brothers presenting with dysostosis multiplex

Challenges in diagnosis and counseling of a family with two recessive neurometabolic disorders

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

Autosomal recessive ichthyosis with limb reduction defect: A simple association and not CHILD syndrome

Challenges identified in the management of patients with inherited metabolic disorders – A five year experience from Pakistan

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

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

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

Treatment options for patients with Gaucher disease

Aminoglycoside induced ototoxicity associated with mitochondrial DNA mutations

Prevalence of glucose-6-phosphate dehydrogenase deficiency in India: An updated meta-analysis

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