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Late-onset cblC defect: clinical, biochemical and molecular analysis.
Ding, Si; Ling, Shiying; Liang, Lili; Qiu, Wenjuan; Zhang, Huiwen; Chen, Ting; Zhan, Xia; Xu, Feng; Gu, Xuefan; Han, Lianshu.
Affiliation
  • Ding S; Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Institute of Pediatric Research, Shanghai Jiao Tong University School of Medicine, 1665 KongJiang Road, Shanghai, 200092, China.
  • Ling S; Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Institute of Pediatric Research, Shanghai Jiao Tong University School of Medicine, 1665 KongJiang Road, Shanghai, 200092, China.
  • Liang L; Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Institute of Pediatric Research, Shanghai Jiao Tong University School of Medicine, 1665 KongJiang Road, Shanghai, 200092, China.
  • Qiu W; Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Institute of Pediatric Research, Shanghai Jiao Tong University School of Medicine, 1665 KongJiang Road, Shanghai, 200092, China.
  • Zhang H; Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Institute of Pediatric Research, Shanghai Jiao Tong University School of Medicine, 1665 KongJiang Road, Shanghai, 200092, China.
  • Chen T; Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Institute of Pediatric Research, Shanghai Jiao Tong University School of Medicine, 1665 KongJiang Road, Shanghai, 200092, China.
  • Zhan X; Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Institute of Pediatric Research, Shanghai Jiao Tong University School of Medicine, 1665 KongJiang Road, Shanghai, 200092, China.
  • Xu F; Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Institute of Pediatric Research, Shanghai Jiao Tong University School of Medicine, 1665 KongJiang Road, Shanghai, 200092, China.
  • Gu X; Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Institute of Pediatric Research, Shanghai Jiao Tong University School of Medicine, 1665 KongJiang Road, Shanghai, 200092, China.
  • Han L; Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Institute of Pediatric Research, Shanghai Jiao Tong University School of Medicine, 1665 KongJiang Road, Shanghai, 200092, China. hanlianshu@xinhuamed.com.cn.
Orphanet J Rare Dis ; 18(1): 306, 2023 09 28.
Article de En | MEDLINE | ID: mdl-37770946
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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Aminoacidopathies congénitales / Homocystinurie Type d'étude: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limites: Adolescent / Adult / Child / Child, preschool / Humans Langue: En Journal: Orphanet J Rare Dis Sujet du journal: MEDICINA Année: 2023 Type de document: Article Pays d'affiliation: Chine Pays de publication: Royaume-Uni
Texte intégral
Ajouter à My VHL
Imprimer
XML
PubMed Links
Recherche sur Google

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Aminoacidopathies congénitales / Homocystinurie Type d'étude: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limites: Adolescent / Adult / Child / Child, preschool / Humans Langue: En Journal: Orphanet J Rare Dis Sujet du journal: MEDICINA Année: 2023 Type de document: Article Pays d'affiliation: Chine Pays de publication: Royaume-Uni