Homozygous Mutation in the Insulin Receptor Gene Associated with Mild Type A Insulin Resistance Syndrome: A Case Report by Bülent Hacihamdioğlu, Elif Gülşah Baş, Kenan Delil

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Genetic and Clinical Characteristics of Patients with Vitamin D Dependent Rickets Type 1A by Fatma Dursun, Gamze Özgürhan, Heves Kırmızıbekmez, Ece Keskin, Bülent Hacıhamdioğlu

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Glycogen storage disease type 0 due to a novel frameshift mutation in glycogen synthase 2 (GYS2) gene in a child presenting with fasting hypoglycemia and postprandial hyperglycemia by Bülent Hacıhamdioğlu, Gamze Özgürhan, Bahar Çaran, Evrim Meydan-Aksanlı, Ece Keskin

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A Case of the Perinatal Form Hypophosphatasia Caused by a Novel Large Duplication of the ALPL Gene and Report of One Year Follow-up with Enzyme Replacement Therapy by Bülent Hacıhamdioğlu, Gamze Özgürhan, Catarina Pereira, Emre Tepeli, Gülşen Acar, Serdar Cömert

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Escherichia coli Meningitis after Rotavirus Gastroenteritis in an Infant by Gamze Ozgurhan, Oznur Vermezoglu, Didem Ocal Topcu, Adem Karbuz, Aysel Vehapoglu, Bulent Hacihamdioglu

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Abdominal obesity is an independent risk factor for increased carotid intima- media thickness in obese children by Bülent Hacihamdioğlu, Vedat Okutan, Yilmaz Yozgat, Düzgün Yildirim, Murat Kocaoğlu, Mustafa Koray Lenk, Okan Ozcan

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Worldwide view of nephropathic cystinosis: results from a survey from 30 countries by Aurélia Bertholet-Thomas, Julien Berthiller, Velibor Tasic, Behrouz Kassai, Hasan Otukesh, Marcella Greco, Jochen Ehrich, Rejane de Paula Bernardes, Georges Deschênes, Sally-Ann Hulton, Michel Fischbach, Kenza Soulami, Bassam Saeed, Ehsan Valavi, Carlos Jose Cobenas, Bülent Hacihamdioglu, Gabrielle Weiler, Pierre Cochat, Justine Bacchetta

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