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C4OH is a potential newborn screening marker-a multicenter retrospective study of patients with beta-ketothiolase deficiency in China.
Lin, Yiming; Yang, Zhantao; Yang, Chiju; Hu, Haili; He, Haiyan; Niu, Tingting; Liu, Mingfang; Wang, Dongjuan; Sun, Yun; Shen, Yuyan; Li, Xiaole; Yan, Huiming; Kong, Yuanyuan; Huang, Xinwen.
Afiliação
  • Lin Y; Department of Genetics and Metabolism, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, 3333 Binsheng Road, Hangzhou, 310052, China.
  • Yang Z; Neonatal Disease Screening Center, Quanzhou Maternity and Children's Hospital, Quanzhou, China.
  • Yang C; Continuing Medical Education and Research Center, Dian Diagnostics Group Co., Ltd, 329 Jinpeng Street, Xihu District, Hangzhou, 310030, China.
  • Hu H; Jining Maternal and Child Health Family Service Center, Jining, China.
  • He H; Neonatal Disease Screening Center, Hefei Maternal and Child Health, Family Planning Service Center, Anhui, China.
  • Niu T; Wuhu Maternal and Child Health Family Planning Service Center, Anhui, China.
  • Liu M; Shandong Provincial Maternal and Child Health Care Hospital, Shandong, China.
  • Wang D; Liaocheng Maternal and Child Health Hospital, Shandong, China.
  • Sun Y; Center for Clinical Molecular Medicine/Newborn Screening Center, Children's Hospital, Chongqing Medical University, Chongqing, China.
  • Shen Y; Nanjing Maternity and Child Health Care Hospital, Women's Hospital of Nanjing Medical University, Jiangsu, China.
  • Li X; Neonatal Disease Screening Center, Huaihua Maternal and Child Health Hospital, Huaihua, China.
  • Yan H; Third Affiliated Hospital of Zhengzhou University, Henan, China.
  • Kong Y; Department of Genetic Medicine, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan, China.
  • Huang X; Department of Newborn Screening, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, 251 Yaojiayuan Road, Chaoyang District, Beijing, 100026, China.
Orphanet J Rare Dis ; 16(1): 224, 2021 05 17.
Article em En | MEDLINE | ID: mdl-34001203
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Triagem Neonatal / Erros Inatos do Metabolismo dos Aminoácidos País/Região como assunto: Asia Idioma: En Ano de publicação: 2021 Tipo de documento: Article País de afiliação: China
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Triagem Neonatal / Erros Inatos do Metabolismo dos Aminoácidos País/Região como assunto: Asia Idioma: En Ano de publicação: 2021 Tipo de documento: Article País de afiliação: China