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Application of a glycinated bile acid biomarker for diagnosis and assessment of response to treatment in Niemann-pick disease type C1.
Sidhu, Rohini; Kell, Pamela; Dietzen, Dennis J; Farhat, Nicole Y; Do, An Ngoc Dang; Porter, Forbes D; Berry-Kravis, Elizabeth; Reunert, Janine; Marquardt, Thorsten; Giugliani, Roberto; Lourenço, Charles M; Wang, Raymond Y; Movsesyan, Nina; Plummer, Ellen; Schaffer, Jean E; Ory, Daniel S; Jiang, Xuntian.
Afiliação
  • Sidhu R; Department of Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA.
  • Kell P; Department of Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA.
  • Dietzen DJ; Department of Pathology & Immunology, 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, NIH, DHHS, Bethesda, MD 20892, USA.
  • Do AND; Section on Molecular Dysmorphology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, NIH, DHHS, Bethesda, MD 20892, USA.
  • Porter FD; Section on Molecular Dysmorphology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, NIH, DHHS, Bethesda, MD 20892, USA.
  • Berry-Kravis E; Rush University Medical Center, Chicago, IL 60612, 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.
  • Giugliani R; Department of Genetics, UFRGS, Medical Genetics Service, HCPA, BioDiscovery Laboratory, HCPA, Hospital de Clínicas de Porto Alegre, National Institute of Population Medical Genetics - INAGEMP, Porto Alegre, RS 90035-903, Brazil.
  • Lourenço CM; Faculdade de Medicina - Centro Universitario Estácio de Ribeirão Preto, Rua Abrahão Issa Halach, 980 - Ribeirânia, Ribeirão Preto, - SP, Brazil.
  • Wang RY; Division of Metabolic Disorders, CHOC Children's Specialists, Orange, CA 92868, USA; Department of Pediatrics, University of California-Irvine School of Medicine, Orange, CA 92868, USA.
  • Movsesyan N; Research Institute, CHOC Children's Hospital, Orange, CA 92868, USA.
  • Plummer E; Asante Pediatric Hematology and Oncology, Medford, OR, 97504, USA.
  • Schaffer JE; Department of Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA.
  • Ory DS; Department of Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA.
  • Jiang X; Department of Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA. Electronic address: jiangxuntian@wustl.edu.
Mol Genet Metab ; 131(4): 405-417, 2020 12.
Article em En | MEDLINE | ID: mdl-33257258
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Peptídeos e Proteínas de Sinalização Intracelular / Doença de Niemann-Pick Tipo C / Glicina Tipo de estudo: Diagnostic_studies Limite: Female / Humans / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
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PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Peptídeos e Proteínas de Sinalização Intracelular / Doença de Niemann-Pick Tipo C / Glicina Tipo de estudo: Diagnostic_studies Limite: Female / Humans / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article