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Application of N-palmitoyl-O-phosphocholineserine for diagnosis and assessment of response to treatment in Niemann-Pick type C disease.
Sidhu, Rohini; Kell, Pamela; Dietzen, Dennis J; Farhat, Nicole Y; Do, An Ngoc Dang; Porter, Forbes D; Berry-Kravis, Elizabeth; Vite, Charles H; Reunert, Janine; Marquardt, Thorsten; Giugliani, Roberto; Lourenço, Charles M; Bodamer, Olaf; Wang, Raymond Y; Plummer, Ellen; Schaffer, Jean E; Ory, Daniel S; Jiang, Xuntian.
Afiliación
  • 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 Pediatrics, 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.
  • Vite CH; Department of Clinical Studies, University of Pennsylvania School of Veterinary Medicine, PA 19104, 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, Universidade Federal do Rio Grande do Sul, Medical Genetics Service, 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.
  • Bodamer O; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA.
  • 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.
  • Plummer E; Asante Pediatric Hematology and Oncology - Medford, 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 ; 129(4): 292-302, 2020 04.
Article en En | MEDLINE | ID: mdl-32033912
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Fosforilcolina / Enfermedad de Niemann-Pick Tipo C / 2-Hidroxipropil-beta-Ciclodextrina Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adolescent / Adult / Aged / Animals / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Mol Genet Metab Asunto de la revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Año: 2020 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Fosforilcolina / Enfermedad de Niemann-Pick Tipo C / 2-Hidroxipropil-beta-Ciclodextrina Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adolescent / Adult / Aged / Animals / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Mol Genet Metab Asunto de la revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Año: 2020 Tipo del documento: Article País de afiliación: Estados Unidos