Mucolipidosis type IV in a Turkish boy associated with a novel MCOLN1 mutation
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概要
- 論文の詳細を見る
- 2009-10-01
著者
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Korkmaz Baris
Istanbul University Cerrahpasa Medical Faculty Department Of Pediatric Neurology
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TUYSUZ Beyhan
Istanbul University, Cerrahpasa Medical Faculty, Department of Pediatric Genetics
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GOLDIN Ehud
National Institutes of Health Medical Genetics Branch, National Human Genome Research Institute
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METIN Baris
Istanbul University, Cerrahpasa Medical Faculty, Department of Pediatric Neurology
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YALCINKAYA Cengiz
Istanbul University, Cerrahpasa Medical Faculty, Department of Pediatric Neurology
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Metin Baris
Istanbul University Cerrahpasa Medical Faculty Department Of Pediatric Neurology
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Goldin Ehud
National Institutes Of Health Medical Genetics Branch National Human Genome Research Institute
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Tuysuz Beyhan
Istanbul University Cerrahpasa Medical Faculty Department Of Pediatric Genetics
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YALCINKAYA Cengiz
Department of Neurology, Istanbul University Cerrahpasa Faculty of Medicine
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Yalcinkaya Cengiz
Department Of Neurology Istanbul University Cerrahpasa Faculty Of Medicine
関連論文
- Mucolipidosis type IV in a Turkish boy associated with a novel MCOLN1 mutation
- Functional deficiencies of sulfite oxidase : Differential diagnoses in neonates presenting with intractable seizures and cystic encephalomalacia