Found: 9
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Development of a bile acid–based newborn screen for Niemann-Pick disease type C.
- Published in:
- Science Translational Medicine, 2016, v. 8, n. 337, p. 1, doi. 10.1126/scitranslmed.aaf2326
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- Publication type:
- Article
Sterol O-Acyltransferase 1 (SOAT1): A Genetic Modifier of Niemann-Pick Disease, Type C1.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 8, p. 4217, doi. 10.3390/ijms25084217
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- Publication type:
- Article
Identification of cerebral spinal fluid protein biomarkers in Niemann-Pick disease, type C1.
- Published in:
- Biomarker Research, 2023, v. 11, n. 1, p. 1, doi. 10.1186/s40364-023-00448-x
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- Publication type:
- Article
Defective platelet function in Niemann‐Pick disease type C1.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2020, v. 56, n. 1, p. 46, doi. 10.1002/jmd2.12148
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- Publication type:
- Article
Quantitating the epigenetic transformation contributing to cholesterol homeostasis using Gaussian process.
- Published in:
- Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-12969-x
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- Publication type:
- Article
Correlation of age of onset and clinical severity in Niemann–Pick disease type C1 with lysosomal abnormalities and gene expression.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-06112-y
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- Publication type:
- Article
Transcriptome of HPβCD-treated Niemann-Pick disease type C1 cells highlights GPNMB as a biomarker for therapeutics.
- Published in:
- Human Molecular Genetics, 2021, v. 30, n. 24, p. 2456, doi. 10.1093/hmg/ddab194
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- Publication type:
- Article
Microglia activation in Niemann-Pick disease, type C1 is amendable to therapeutic intervention.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 12, p. 2076, doi. 10.1093/hmg/ddy112
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- Publication type:
- Article
Gastrointestinal Tract Pathology in a BALB/c Niemann-Pick Disease Type C1 Null Mouse Model.
- Published in:
- 2018
- By:
- Publication type:
- journal article