المؤلفون: Sidhu, Rohini, Kell, Pamela, Dietzen, Dennis J, Farhat, Nicole Y, Do, An Ngoc Dang, Porter, Forbes D, Berry-Kravis, Elizabeth, Reunert, Janine, Marquardt, Thorsten, Giugliani, Roberto, Lourenço, Charles M, Wang, Raymond Y, Movsesyan, Nina, Plummer, Ellen, Schaffer, Jean E, Ory, Daniel S, Jiang, Xuntian

المصدر: Molecular Genetics and Metabolism. 131(4)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Clinical Sciences, Clinical Research, Neurosciences, Biotechnology, Detection, screening and diagnosis, 4.2 Evaluation of markers and technologies, Metabolic and endocrine, 2-Hydroxypropyl-beta-cyclodextrin, Bile Acids and Salts, Biomarkers, Female, Glycine, Humans, Intracellular Signaling Peptides and Proteins, Male, Niemann-Pick C1 Protein, Niemann-Pick Disease, Type C, Tandem Mass Spectrometry, Vesicular Transport Proteins, Bile acid, N-(3 beta, 5 alpha, 6 beta-trihydroxy-cholan-24-oyl)glycine, Niemann-Pick disease type C, diagnosis, 2-hydroxypropyl-beta-cyclodextrin, treatment assessment, 2-hydroxypropyl-β-cyclodextrin, N-(3β, 5α, 6β-trihydroxy-cholan-24-oyl)glycine, Genetics & Heredity, Genetics, Clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/2bq4g22bTest

المؤلفون: Sidhu, Rohini, Kell, Pamela, Dietzen, Dennis J, Farhat, Nicole Y, Do, An Ngoc Dang, Porter, Forbes D, Berry-Kravis, Elizabeth, Vite, Charles H, Reunert, Janine, Marquardt, Thorsten, Giugliani, Roberto, Lourenço, Charles M, Bodamer, Olaf, Wang, Raymond Y, Plummer, Ellen, Schaffer, Jean E, Ory, Daniel S, Jiang, Xuntian

المصدر: Molecular Genetics and Metabolism. 129(4)

مصطلحات موضوعية: Biotechnology, Clinical Research, Neurosciences, Development of treatments and therapeutic interventions, 5.1 Pharmaceuticals, Metabolic and endocrine, 2-Hydroxypropyl-beta-cyclodextrin, Adolescent, Adult, Aged, Animals, Biomarkers, Cats, Child, Child, Preschool, Chromatography, Liquid, Female, Humans, Infant, Infant, Newborn, Male, Middle Aged, Niemann-Pick Disease, Type C, Phosphorylcholine, Sensitivity and Specificity, Severity of Illness Index, Tandem Mass Spectrometry, Treatment Outcome, Young Adult, LysoSM-509, N-palmitoyl-O-phosphocholineserine, Niemann-Pick disease type C, Diagnosis, Treatment assessment, 2-Hydroxypropyl-β-cyclodextrin, Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/71b6c1z9Test

المؤلفون: Wang, Chao, Scott, Samantha M, Subramanian, Kanagaraj, Loguercio, Salvatore, Zhao, Pei, Hutt, Darren M, Farhat, Nicole Y, Porter, Forbes D, Balch, William E

المصدر: Nature communications. 10(1)

مصطلحات موضوعية: Cell Line, Tumor, Hela Cells, Endosomes, Lysosomes, Fibroblasts, Humans, Cholesterol, Regression Analysis, Normal Distribution, Epigenesis, Genetic, Structure-Activity Relationship, Homeostasis, Lipid Metabolism, Niemann-Pick Disease, Type C, Histone Deacetylase Inhibitors, Proteostasis Deficiencies, Epigenomics, Machine Learning, Niemann-Pick C1 Protein, Vorinostat, HeLa Cells, Cell Line, Tumor, Epigenesis, Genetic, Niemann-Pick Disease, Type C

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/16k6n8sdTest

المؤلفون: Campbell, Kiersten, Cawley, Niamh X., Luke, Rachel, Scott, Katelin E. J., Johnson, Nicholas, Farhat, Nicole Y., Alexander, Derek, Wassif, Christopher A., Li, Wenping, Cologna, Stephanie M., Berry-Kravis, Elizabeth, Do, An Dang, Dale, Ryan K., Porter, Forbes D.

المساهمون: Together Strong NPC Foundation, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Ara Parseghian Medical Research Foundation, National Institutes of Health

المصدر: Biomarker Research ; volume 11, issue 1 ; ISSN 2050-7771

مصطلحات موضوعية: Biochemistry (medical), Clinical Biochemistry, Molecular Medicine

الإتاحة: https://doi.org/10.1186/s40364-023-00448-xTest

المؤلفون: Agrawal, Neena, Farhat, Nicole Y., Sinaii, Ninet, Do, An Dang, Xiao, Changrui, Berry-Kravis, Elizabeth, Bianconi, Simona, Masvekar, Ruturaj, Bielekova, Bibiana, Solomon, Beth, Porter, Forbes D.

المساهمون: Ara Parseghian Medical Research Fund, National Institutes of Health, National Institute of Child Health and Human Development, Ara Parseghian Medical Research Foundation, Eunice Kennedy Shriver National Institute of Child Health and Human Development

المصدر: Genetics in Medicine ; volume 25, issue 3, page 100349 ; ISSN 1098-3600

مصطلحات موضوعية: Genetics (clinical)

الإتاحة: https://doi.org/10.1016/j.gim.2022.11.017Test
https://api.elsevier.com/content/article/PII:S1098360022010371?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360022010371?httpAccept=text/plainTest

المؤلفون: Farhat, Nicole Y.¹ (AUTHOR) nicole.farhat@nih.gov, Alexander, Derek¹ (AUTHOR) derek.alexander@nih.gov, McKee, Kyli¹ (AUTHOR) kyli.a.mckee@gmail.com, Iben, James² (AUTHOR) james.iben@nih.gov, Rodriguez-Gil, Jorge L.³ (AUTHOR) jrgil@stanford.edu, Wassif, Christopher A.¹ (AUTHOR) christopher.wassif@astrazeneca.com, Cawley, Niamh X.¹ (AUTHOR) cawleyn@mail.nih.gov, Balch, William E.⁴ (AUTHOR) webalch@scripps.edu, Porter, Forbes D.¹ (AUTHOR) fdporter@mail.nih.gov

المصدر: International Journal of Molecular Sciences. Apr2024, Vol. 25 Issue 8, p4217. 14p.

مصطلحات موضوعية: *NIEMANN-Pick diseases, *LYSOSOMAL storage diseases, *GENE expression, *NATURAL history, *AGE of onset

المؤلفون: Baxter, Laura L., Watkins-Chow, Dawn E., Johnson, Nicholas L., Farhat, Nicole Y., Platt, Frances M., Dale, Ryan K., Porter, Forbes D., Pavan, William J., Rodriguez-Gil, Jorge L.

المساهمون: National Human Genome Research Institute, Eunice Kennedy Shriver National Institute of Child Health and Human Development, School of Medicine and Public Health, University of Wisconsin-Madison

المصدر: Scientific Reports ; volume 12, issue 1 ; ISSN 2045-2322

مصطلحات موضوعية: Multidisciplinary

الإتاحة: https://doi.org/10.1038/s41598-022-06112Test-y
https://www.nature.com/articles/s41598-022-06112Test-y.pdf
https://www.nature.com/articles/s41598-022-06112Test-y

المؤلفون: Rodriguez-Gil, Jorge L, Baxter, Laura L, Watkins-Chow, Dawn E, Johnson, Nicholas L, Davidson, Cristin D, Carlson, Steven R, Incao, Arturo A, Wallom, Kerri L, Farhat, Nicole Y, Platt, Frances M, Dale, Ryan K, Porter, Forbes D, Pavan, William J

المساهمون: National Institutes of Health Intramural Research Programs, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Human Genome Research Institute, University of Wisconsin-Madison School of Medicine and Public Health

المصدر: Human Molecular Genetics ; volume 30, issue 24, page 2456-2468 ; ISSN 0964-6906 1460-2083

مصطلحات موضوعية: Genetics (clinical), Genetics, Molecular Biology, General Medicine

الإتاحة: https://doi.org/10.1093/hmg/ddab194Test
https://academic.oup.com/hmg/article-pdf/30/24/2456/41389792/ddab194.pdfTest

المؤلفون: Chen, Oscar C. W., Colaco, Alexandria, Davis, Lianne C., Kiskin, Fedir N., Farhat, Nicole Y., Speak, Anneliese O., Smith, David A., Morris, Lauren, Eden, Emily, Tynan, Patricia, Churchill, Grant C., Galione, Antony, Porter, Forbes D., Platt, Frances M.

المساهمون: Eunice Kennedy Shriver National Institute of Child Health and Human Development, Ara Parseghian Medical Research Foundation, Action Medical Research, Niemann-Pick Research Foundation, Metabolic Support UK

المصدر: JIMD Reports ; volume 56, issue 1, page 46-57 ; ISSN 2192-8312 2192-8312

الإتاحة: https://doi.org/10.1002/jmd2.12148Test

المؤلفون: Campbell, Kiersten, Cawley, Niamh X., Luke, Rachel, Scott, Katelin E. J., Johnson, Nicholas, Farhat, Nicole Y., Alexander, Derek, Wassif, Christopher A., Li, Wenping, Cologna, Stephanie M., Berry-Kravis, Elizabeth, Do, An Dang, Dale, Ryan K., Porter, Forbes D.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::05eaae7a6990615e6ed87ae43deb090eTest