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Improvement in the sensitivity of newborn screening for Fabry disease among females through the use of a high-throughput and cost-effective method, DNA mass spectrometry.
Lu, Yung-Hsiu; Huang, Po-Hsun; Wang, Li-Yun; Hsu, Ting-Rong; Li, Hsing-Yuan; Lee, Pi-Chang; Hsieh, Yu-Ping; Hung, Sheng-Che; Wang, Yu-Chen; Chang, Sheng-Kai; Lee, Ya-Ting; Ho, Ping-Hsun; Ho, Hui-Chen; Niu, Dau-Ming.
Afiliación
  • Lu YH; Institute of Clinical Medicine, National Yang-Ming University, Taipei, Taiwan.
  • Huang PH; Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan.
  • Wang LY; Institute of Clinical Medicine, National Yang-Ming University, Taipei, Taiwan.
  • Hsu TR; Division of Cardiology, Department of Medicine, Taipei Veterans General Hospital, Taipei, Taiwan.
  • Li HY; Taipei Institute of Pathology, Taipei, Taiwan.
  • Lee PC; Institute of Clinical Medicine, National Yang-Ming University, Taipei, Taiwan.
  • Hsieh YP; Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan.
  • Hung SC; Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan.
  • Wang YC; Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan.
  • Chang SK; Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan.
  • Lee YT; Department of Radiology, Taipei Veterans General Hospital, Taipei, Taiwan.
  • Ho PH; Department of Pathology and Laboratory Medicine, Taipei Veterans General Hospital, Taipei, Taiwan.
  • Ho HC; Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan.
  • Niu DM; Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan.
J Hum Genet ; 63(1): 1-8, 2018 Jan.
Article en En | MEDLINE | ID: mdl-29215092
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Espectrometría de Masas / ADN / Tamizaje Masivo / Enfermedad de Fabry Tipo de estudio: Diagnostic_studies / Health_economic_evaluation / Prognostic_studies / Screening_studies Límite: Adult / Female / Humans / Newborn Idioma: En Revista: J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2018 Tipo del documento: Article País de afiliación: Taiwán
Texto completo
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PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Espectrometría de Masas / ADN / Tamizaje Masivo / Enfermedad de Fabry Tipo de estudio: Diagnostic_studies / Health_economic_evaluation / Prognostic_studies / Screening_studies Límite: Adult / Female / Humans / Newborn Idioma: En Revista: J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2018 Tipo del documento: Article País de afiliación: Taiwán