Molecular and clinical analyses of Japanese patients with carbamoylphosphate synthetase 1 (CPS1) deficiency
スポンサーリンク
概要
著者
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Yorifuji Tohru
Department Of Pediatrics Kyoto University Hospital
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Kawai Masahiko
Department Of Pediatrics Kyoto University Hospital
関連論文
- Prevalence of Mutations in the FGFR3 Gene in Individuals with Idiopathic Short Stature
- Histological findings in the livers of patients with neonatal intrahepatic cholestasis caused by citrin deficiency
- 23 Effects of the earlier initiation of GH therapy on the final height and starting time of gonadot ropin replacement in children with multiple pituitary hormone deficiency.
- Current Controversy on Growth Hormone Therapy in Non-Growth Hormone Deficient Short Stature
- Identification of a novel single base-pair polymorphism in the glutamate dehydrogenase (GLUD1) gene
- Molecular and clinical analyses of Japanese patients with carbamoylphosphate synthetase 1 (CPS1) deficiency
- Mucolipidosis II and III alpha/beta : mutation analysis of 40 Japanese patients showed genotype-phenotype correlation
- Cross-sectional study of bone metabolism with nutrition in adult classical phenylketonuric patients diagnosed by neonatal screening