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Elevated Cerebrospinal Fluid Total Tau in Niemann-Pick Disease Type C1: Correlation With Clinical Severity and Response to Therapeutic Interventions.

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Title: Elevated Cerebrospinal Fluid Total Tau in Niemann-Pick Disease Type C1: Correlation With Clinical Severity and Response to Therapeutic Interventions.
Authors: Cawley NX; Section on Molecular Dysmorphology, Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA., Zhou R; Applied and Computational Mathematics and Statistics, University of Notre Dame, Indiana, USA., Farhat NM; Section on Molecular Dysmorphology, Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA., Iben J; Molecular Genomics Core, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA., Alexander DM; Section on Molecular Dysmorphology, Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA., Luke RA; Section on Molecular Dysmorphology, Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA., Padilla CJ; Section on Molecular Dysmorphology, Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA., Mohamed HO; Section on Molecular Dysmorphology, Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA., Albert OK; Departments of Pediatrics, Neurological Sciences, and Anatomy and Cell Biology, Rush University Medical Center, Chicago, Illinois, USA., Robbins KP; Departments of Pediatrics, Neurological Sciences, and Anatomy and Cell Biology, Rush University Medical Center, Chicago, Illinois, USA., Rahhal S; Section on Molecular Dysmorphology, Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA., Do AD; Unit on Cellular Stress in Development and Diseases, Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA., Berry-Kravis E; Departments of Pediatrics, Neurological Sciences, and Anatomy and Cell Biology, Rush University Medical Center, Chicago, Illinois, USA., Cologna SM; Department of Chemistry and Laboratory of Integrative Neuroscience, University of Illinois Chicago, Chicago, Illinois, USA., Liu F; Applied and Computational Mathematics and Statistics, University of Notre Dame, Indiana, USA., Porter FD; Section on Molecular Dysmorphology, Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA.
Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2025 Mar; Vol. 48 (2), pp. e70016.
Publication Type: Journal Article
Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE
Database: MEDLINE Ultimate
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        Value: 10.1002/jimd.70016
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        Text: English
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        StartPage: e70016
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      – TitleFull: Elevated Cerebrospinal Fluid Total Tau in Niemann-Pick Disease Type C1: Correlation With Clinical Severity and Response to Therapeutic Interventions.
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              Text: 2025 Mar
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