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Juvenile CLN3 disease is a lysosomal cholesterol storage disorder: similarities with Niemann-Pick type C disease.
Chen, Jacinda; Soni, Rajesh Kumar; Xu, Yimeng; Simoes, Sabrina; Liang, Feng-Xia; DeFreitas, Laura; Hwang, Robert; Montesinos, Jorge; Lee, Joseph H; Area-Gomez, Estela; Nandakumar, Renu; Vardarajan, Badri; Marquer, Catherine.
Afiliación
  • Chen J; Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University Irving Medical Center, New York City, NY 10032, USA.
  • Soni RK; Proteomics and Macromolecular Crystallography Shared Resource, Herbert Irving Comprehensive Cancer Center, New York City, NY 10032, USA.
  • Xu Y; Biomarkers Core Laboratory, Irving Institute for Clinical and Translational Research, Columbia University Irving Medical Center, New York City, NY 10032, USA.
  • Simoes S; Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University Irving Medical Center, New York City, NY 10032, USA; Department of Neurology, Columbia University Irving Medical Center, New York City, NY 10032, USA.
  • Liang FX; Microscopy Core Laboratory of Division of Advanced Research Technologies, New York University Grossman School of Medicine, New York City, NY 10016, USA.
  • DeFreitas L; Biomarkers Core Laboratory, Irving Institute for Clinical and Translational Research, Columbia University Irving Medical Center, New York City, NY 10032, USA.
  • Hwang R; Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University Irving Medical Center, New York City, NY 10032, USA.
  • Montesinos J; Department of Neurology, Columbia University Irving Medical Center, New York City, NY 10032, USA.
  • Lee JH; Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University Irving Medical Center, New York City, NY 10032, USA; Department of Neurology, Columbia University Irving Medical Center, New York City, NY 10032, USA; G. H. Sergievsky Center, Columbia University Irving Medic
  • Area-Gomez E; Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University Irving Medical Center, New York City, NY 10032, USA; Department of Neurology, Columbia University Irving Medical Center, New York City, NY 10032, USA; Institute of Human Nutrition, Columbia University Irving
  • Nandakumar R; Biomarkers Core Laboratory, Irving Institute for Clinical and Translational Research, Columbia University Irving Medical Center, New York City, NY 10032, USA.
  • Vardarajan B; Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University Irving Medical Center, New York City, NY 10032, USA; Department of Neurology, Columbia University Irving Medical Center, New York City, NY 10032, USA; G. H. Sergievsky Center, Columbia University Irving Medic
  • Marquer C; Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University Irving Medical Center, New York City, NY 10032, USA; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York City, NY 10032, USA. Electronic address: cm3244@cumc.columbia
EBioMedicine ; 92: 104628, 2023 Jun.
Article en En | MEDLINE | ID: mdl-37245481
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedades por Almacenamiento Lisosomal / Enfermedad de Niemann-Pick Tipo C Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: EBioMedicine Año: 2023 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Países Bajos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedades por Almacenamiento Lisosomal / Enfermedad de Niemann-Pick Tipo C Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: EBioMedicine Año: 2023 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Países Bajos