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A rare cause of hydrops fetalis in two Gaucher disease type 2 patients with a novel mutation |
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| Authors: | Kılavuz Sebile Basaranoglu Murat Epcacan Serdar Bako Derya Ozer Arife Donmez Yasemin Nuran Ceylan Emine Ipek Tukun Ajlan Ceylaner Serdar Geylani Hadi Mungan Halise Neslihan Onenli |
| Institution: | 1.Division of Pediatric Metabolism and Nutrition, Department of Pediatrics, Van Training and Research Hospital, University of Health Sciences, Van, Turkey ;2.Department of Pharmacology, University of Oxford, Mansfield Road, Oxford, OX1 3QT, UK ;3.Division of Neonatology, Department of Pediatrics, University of Health Sciences, Van Training and Research Hospital, Van, Turkey ;4.Division of Pediatric Cardiology Disease, Department of Pediatrics, University of Health Sciences, Van Training and Research Hospital, Van, Turkey ;5.Divisions of Pediatric Radiology, Department of Radiology, University of Health Sciences, Van Training and Research Hospital, Van, Turkey ;6.Division of Pediatric Infectious Disease, Department of Pediatrics, University of Health Sciences, Van Training and Research Hospital, Van, Turkey ;7.Department of Medical Genetics, University of Health Sciences, Van Training and Research Hospital, Van, Turkey ;8.Department of Medical Genetics, Duzen Laboratory, Ankara, Turkey ;9.Intergen Genetic Diagnosis and Research Center, Ankara, Turkey ;10.Department of Medical Genetics, Medical Faculty, Lokman Hekim University, Ankara, Turkey ;11.Division of Pediatric Hematology, Department of Pediatrics, University of Health Sciences, Van Training and Research Hospital, Van, Turkey ;12.Division of Pediatric Metabolism and Nutrition, Department of Pediatrics, ?ukurova University Faculty of Medicine, Adana, Turkey ; |
| Abstract: | Metabolic Brain Disease - Gaucher disease type 2 is the most progressive and the rarest form of Gaucher disease, defined as the acute neuronopathic type. We presented two GD2 patients who died... |
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