Molecular and clinical analyses of Japanese patients with carbamoylphosphate synthetase 1 (CPS1) deficiency

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概要

• 論文の詳細を見る
• Springer Japanの論文

著者

• Yorifuji Tohru

  Department Of Pediatrics Kyoto University Hospital

• 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
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• 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

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