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Characterization of liver disease in a cohort of individuals with Niemann-Pick Disease, Type C1.

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Title: Characterization of liver disease in a cohort of individuals with Niemann-Pick Disease, Type C1.
Authors: Agrawal N; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States of America; Division of Medical Genetics and Genomic Medicine, Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN, United States of America., Bianconi S; Division of Translational Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, United States of America; Southern California Permanente Medical Group, San Diego, CA, United States of America., Jaeger R; Department of Pediatrics, Rush University Medical Center, Chicago, IL, United States of America., Farhat NY; Division of Translational Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, United States of America., Alexander DM; Division of Translational Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, United States of America., Sinaii N; Biostatistics and Clinical Epidemiology Service, Clinical Center, National Institutes of Health, Bethesda, MD, United States of America., Hadigan C; Clinical Center, National Institutes of Health, Bethesda, MD, United States of America., Berry-Kravis E; Department of Neurological Sciences, Department of Pediatrics, Department of Anatomy and Cell Biology, Rush University Medical Center, Chicago, IL, United States of America., Porter FD; Division of Translational Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, United States of America. Electronic address: fdporter@mail.nih.gov.
Source: Molecular genetics and metabolism [Mol Genet Metab] 2026 Mar; Vol. 147 (3), pp. 109716. Date of Electronic Publication: 2025 Dec 29.
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
Database: MEDLINE Ultimate
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  Data: Characterization of liver disease in a cohort of individuals with Niemann-Pick Disease, Type C1.
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  Data: <searchLink fieldCode="AU" term="%22Agrawal+N%22">Agrawal N</searchLink>; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States of America; Division of Medical Genetics and Genomic Medicine, Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN, United States of America.<br /><searchLink fieldCode="AU" term="%22Bianconi+S%22">Bianconi S</searchLink>; Division of Translational Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, United States of America; Southern California Permanente Medical Group, San Diego, CA, United States of America.<br /><searchLink fieldCode="AU" term="%22Jaeger+R%22">Jaeger R</searchLink>; Department of Pediatrics, Rush University Medical Center, Chicago, IL, United States of America.<br /><searchLink fieldCode="AU" term="%22Farhat+NY%22">Farhat NY</searchLink>; Division of Translational Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, United States of America.<br /><searchLink fieldCode="AU" term="%22Alexander+DM%22">Alexander DM</searchLink>; Division of Translational Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, United States of America.<br /><searchLink fieldCode="AU" term="%22Sinaii+N%22">Sinaii N</searchLink>; Biostatistics and Clinical Epidemiology Service, Clinical Center, National Institutes of Health, Bethesda, MD, United States of America.<br /><searchLink fieldCode="AU" term="%22Hadigan+C%22">Hadigan C</searchLink>; Clinical Center, National Institutes of Health, Bethesda, MD, United States of America.<br /><searchLink fieldCode="AU" term="%22Berry-Kravis+E%22">Berry-Kravis E</searchLink>; Department of Neurological Sciences, Department of Pediatrics, Department of Anatomy and Cell Biology, Rush University Medical Center, Chicago, IL, United States of America.<br /><searchLink fieldCode="AU" term="%22Porter+FD%22">Porter FD</searchLink>; Division of Translational Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, United States of America. Electronic address: fdporter@mail.nih.gov.
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        Value: 10.1016/j.ymgme.2025.109716
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        Text: English
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              Text: 2026 Mar
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