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Utility of 24(S)-hydroxycholesterol as a proximal biomarker to monitor long-term intrathecal adrabetadex therapy in individuals with Niemann-Pick disease, type C1.

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Title: Utility of 24(S)-hydroxycholesterol as a proximal biomarker to monitor long-term intrathecal adrabetadex therapy in individuals with Niemann-Pick disease, type C1.
Authors: Porter FD; Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, DHHS, Bethesda, MD, United States of America. Electronic address: fdporter@mail.nih.gov., Alexander DM; Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, DHHS, Bethesda, MD, United States of America., Albert OK; Departments of Pediatrics, Rush University Medical Center, Chicago, IL, United States of America., Robbins KP; Departments of Pediatrics, Rush University Medical Center, Chicago, IL, United States of America., Labor DA; Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, DHHS, Bethesda, MD, United States of America., Borruso AJ; Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, DHHS, Bethesda, MD, United States of America., Farhat NY; Division of Clinical Research, National Institute of Neurological Disorders and Stroke, National Institutes of Health, DHHS, Bethesda, MD, United States of America., Jiang X; Department of Medicine, Washington University School of Medicine, St. Louis, MO, United States of America., Berry-Kravis E; Departments of Pediatrics, Rush University Medical Center, Chicago, IL, United States of America; Departments of Neurological Sciences, and Anatomy and Cell Biology, Rush University Medical Center, Chicago, IL, United States of America.
Source: Molecular genetics and metabolism [Mol Genet Metab] 2025 Dec; Vol. 146 (4), pp. 109254. Date of Electronic Publication: 2025 Oct 06.
Publication Type: Journal Article
Journal Info: Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE
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  Data: Utility of 24(S)-hydroxycholesterol as a proximal biomarker to monitor long-term intrathecal adrabetadex therapy in individuals with Niemann-Pick disease, type C1.
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        Value: 10.1016/j.ymgme.2025.109254
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        Text: English
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              Text: 2025 Dec
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