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Development of a bile acid-based newborn screen for Niemann-Pick disease type C.
Jiang, Xuntian; Sidhu, Rohini; Mydock-McGrane, Laurel; Hsu, Fong-Fu; Covey, Douglas F; Scherrer, David E; Earley, Brian; Gale, Sarah E; Farhat, Nicole Y; Porter, Forbes D; Dietzen, Dennis J; Orsini, Joseph J; Berry-Kravis, Elizabeth; Zhang, Xiaokui; Reunert, Janice; Marquardt, Thorsten; Runz, Heiko; Giugliani, Roberto; Schaffer, Jean E; Ory, Daniel S.
Afiliação
  • Jiang X; Diabetic Cardiovascular Disease Center, Washington University School of Medicine, St. Louis, MO 63110, USA.
  • Sidhu R; Diabetic Cardiovascular Disease Center, Washington University School of Medicine, St. Louis, MO 63110, USA.
  • Mydock-McGrane L; Department of Developmental Biology, Washington University School of Medicine, St. Louis, MO 63110, USA.
  • Hsu FF; Department of Internal Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA.
  • Covey DF; Department of Developmental Biology, Washington University School of Medicine, St. Louis, MO 63110, USA.
  • Scherrer DE; Diabetic Cardiovascular Disease Center, Washington University School of Medicine, St. Louis, MO 63110, USA.
  • Earley B; Diabetic Cardiovascular Disease Center, Washington University School of Medicine, St. Louis, MO 63110, USA.
  • Gale SE; Diabetic Cardiovascular Disease Center, Washington University School of Medicine, St. Louis, MO 63110, USA.
  • Farhat NY; Section on Molecular Dysmorphology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892, USA.
  • Porter FD; Section on Molecular Dysmorphology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892, USA.
  • Dietzen DJ; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110, USA.
  • Orsini JJ; New York State Department of Health, Wadsworth Center, Albany, NY 12201, USA.
  • Berry-Kravis E; Rush University Medical Center, Chicago, IL 60612, USA.
  • Zhang X; Genzyme, 500 Kendall Street, Cambridge, MA 02142, USA.
  • Reunert J; Klinik und Poliklinik für Kinder- und Jugendmedizin-Allgemeine Pädiatrie, Universitätsklinikum Münster, Albert-Schweitzer-Campus 1, Gebäude A1, 48149 Münster, Germany.
  • Marquardt T; Klinik und Poliklinik für Kinder- und Jugendmedizin-Allgemeine Pädiatrie, Universitätsklinikum Münster, Albert-Schweitzer-Campus 1, Gebäude A1, 48149 Münster, Germany.
  • Runz H; Institute of Human Genetics, University of Heidelberg, Im Neuenheimer Feld 366, 69120 Heidelberg, Germany. Department of Genetics and Pharmacogenomics, Merck Research Laboratories, 33 Avenue Louis Pasteur, Boston, MA 02115, USA.
  • Giugliani R; Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos, 2350, Porto Alegre, Rio Grande do Sul 90035-003, Brazil.
  • Schaffer JE; Diabetic Cardiovascular Disease Center, Washington University School of Medicine, St. Louis, MO 63110, USA.
  • Ory DS; Diabetic Cardiovascular Disease Center, Washington University School of Medicine, St. Louis, MO 63110, USA. dory@wustl.edu.
Sci Transl Med ; 8(337): 337ra63, 2016 05 04.
Article em En | MEDLINE | ID: mdl-27147587
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Ácidos e Sais Biliares / Biomarcadores / Doença de Niemann-Pick Tipo C Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans / Newborn Idioma: En Revista: Sci Transl Med Ano de publicação: 2016 Tipo de documento: Article
Texto completo
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XML
PubMed Links
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Ácidos e Sais Biliares / Biomarcadores / Doença de Niemann-Pick Tipo C Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans / Newborn Idioma: En Revista: Sci Transl Med Ano de publicação: 2016 Tipo de documento: Article