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Identification of novel variations in SLC6A8 and GAMT genes causing cerebral creatine deficiency syndrome.
Shen, Ming; Yang, Guangming; Chen, Zhehui; Yang, Kai; Dong, Hui; Yin, Chengliang; Cheng, Yuxuan; Zhang, Chunyan; Gu, Fangyan; Yang, Yanling; Tian, Yaping.
Afiliação
  • Shen M; Research Center for Translational Medicine Laboratory, Medical Innovation Research Division of Chinese PLA General Hospital, Beijing, China.
  • Yang G; Research Center for Translational Medicine Laboratory, Medical Innovation Research Division of Chinese PLA General Hospital, Beijing, China.
  • Chen Z; Department of Pediatrics, Peking University First Hospital, Beijing, China.
  • Yang K; Prenatal Diagnosis Center, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing, China.
  • Dong H; Department of Pediatrics, Peking University First Hospital, Beijing, China.
  • Yin C; Medical Big Data Research Center, Medical Innovation Research Division of Chinese People's Liberation Army General Hospital, Beijing, China.
  • Cheng Y; Birth Defects Prevention and Control Technology Research Center, Medical Research and Innovation Department, Chinese PLA General Hospital, Beijing, China.
  • Zhang C; Birth Defects Prevention and Control Technology Research Center, Medical Research and Innovation Department, Chinese PLA General Hospital, Beijing, China.
  • Gu F; Clinical Biobank Center, Medical Innovation Research Division of Chinese PLA General Hospital, Beijing, China.
  • Yang Y; Department of Pediatrics, Peking University First Hospital, Beijing, China. Electronic address: yanlingy@bjmu.edu.cn.
  • Tian Y; Birth Defects Prevention and Control Technology Research Center, Medical Research and Innovation Department, Chinese PLA General Hospital, Beijing, China. Electronic address: tianyp@301hospital.com.cn.
Clin Chim Acta ; 532: 29-36, 2022 Jul 01.
Article em En | MEDLINE | ID: mdl-35588794
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Encefalopatias Metabólicas Congênitas / Guanidinoacetato N-Metiltransferase / Proteínas da Membrana Plasmática de Transporte de Neurotransmissores / Deficiência Intelectual / Proteínas do Tecido Nervoso Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Child / Humans Idioma: En Revista: Clin Chim Acta Ano de publicação: 2022 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Encefalopatias Metabólicas Congênitas / Guanidinoacetato N-Metiltransferase / Proteínas da Membrana Plasmática de Transporte de Neurotransmissores / Deficiência Intelectual / Proteínas do Tecido Nervoso Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Child / Humans Idioma: En Revista: Clin Chim Acta Ano de publicação: 2022 Tipo de documento: Article