Prenatal Diagnosis Reveals the Relative Frequencies of Lysosomal Storage Diseases in Japan
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概要
- 論文の詳細を見る
- 日本先天異常学会の論文
- 1992-06-30
著者
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北川 照男
Department of Pediatrics, Nihon University, School of Medicine
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Owada Misao
Department Of Pediatrics Nihon University Hospital
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Kitagawa Teruo
Department Of Pediatrics Nihon University Hospital
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MORIYA Momoko
Department of Pediatrics, Nihon University Hospital
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Moriya Momoko
Department Of Pediatrics Nihon University Hospital
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守屋 百子
Department of Pediatrics, Nihon University Hospital
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大和田 操
Department of Pediatrics, Nihon University Hospital
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- A Cell Line Derived from Sphingomyelinosis Mouse Shows Alterations in Intracellular Cholesterol Metabolism Similar to Those in Type C Niemann-Pick Disease
- Eating Disorders in Patients with Juvenile-Onset Type 1 Diabetes Mellitus
- Early onset distal muscular dystrophy with normal dysferlin expression
- Prenatal Diagnosis Reveals the Relative Frequencies of Lysosomal Storage Diseases in Japan
- Novel missense mutation in the purine nucleoside phosphorylase gene in a Japanese patient with purine nucleoside phosphorylase deficiency
- A newly identified exonic mutation of the WT1 gene in a patient with Denys-Drash syndrome