المؤلفون: Dang, An N, Chang, Irene J, Jiang, Xutian, Wolfe, Lynne A, Ng, Bobby G, Lam, Christina, Schnur, Rhonda E, Allis, Katrina, Hansikova, Hana, Ondruskova, Nina, O'Connor, Shawn D, Sanchez‐Valle, Amarilis, Vollo, Arve, Wang, Raymond Y, Wolfenson, Zoe, Perreault, John, Ory, Daniel S, Freeze, Hudson H, Merritt, J Lawrence, Porter, Forbes D

المصدر: Journal of Inherited Metabolic Disease. 46(2)

مصطلحات موضوعية: Biochemistry and Cell Biology, Biological Sciences, Clinical Research, Pediatric, Digestive Diseases, Liver Disease, Infant, Child, Humans, Oxysterols, Congenital Disorders of Glycosylation, Niemann-Pick Disease, Type C, Glycosylation, Bile Acids and Salts, Hydrolases, Vacuolar Proton-Translocating ATPases, ATP6AP1, bile acids, congenital disorders of glycosylation, Niemann-pick type C, N-palmitoyl-O-phosphocholineserine, oxysterols, Clinical Sciences, Genetics & Heredity, Genetics, Clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/39n7s551Test

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: Farmer, Cristan A., Kaat, Aaron J., Thurm, Audrey, Anselm, Irina, Akshoomoff, Natacha, Bennett, Amanda, Berry, Leandra, Bruchey, Aleksandra, Barshop, Bruce A., Berry-Kravis, Elizabeth, Bianconi, Simona, Cecil, Kim M., Davis, Robert J., Ficicioglu, Can, Porter, Forbes D., Wainer, Allison, Goin-Kochel, Robin P., Leonczyk, Caroline, Guthrie, Whitney, Koeberl, Dwight, Love-Nichols, Jamie, Mamak, Eva, Mercimek-Andrews, Saadet, Thomas, Rebecca P., Spiridigliozzi, Gail A., Sullivan, Nancy, Sutton, Vernon R., Udhnani, Manisha D., Waisbren, Susan E., Miller, Judith S.

المصدر: American Journal on Intellectual and Developmental Disabilities. Nov 2020 125(6):475-480.

تمت مراجعته من قبل الزملاء: Y

Page Count: 6

الواصفات: Developmental Disabilities, Norm Referenced Tests, Scores, Ability, Autism, Pervasive Developmental Disorders, Standardized Tests, Item Response Theory

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: Lyons, Erica L., Watson, Daniel, Alodadi, Mohammad S., Haugabook, Sharie J., Tawa, Gregory J., Hannah-Shmouni, Fady, Porter, Forbes D., Collins, Jack R., Ottinger, Elizabeth A., Mudunuri, Uma S.

المساهمون: National Institutes of Health

المصدر: BMC Genomics ; volume 24, issue 1 ; ISSN 1471-2164

مصطلحات موضوعية: Genetics, Biotechnology

الإتاحة: https://doi.org/10.1186/s12864-023-09561-5Test

المؤلفون: Cawley, Niamh X., Giddens, Spencer, Farhat, Nicole M., Luke, Rachel A., Scott, Katelin E.J., Mohamed, Hibaaq O., Dang Do, An, Berry-Kravis, Elizabeth, Cologna, Stephanie M., Liu, Fang, Porter, Forbes D.

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

المصدر: Molecular Genetics and Metabolism ; volume 140, issue 3, page 107656 ; ISSN 1096-7192

مصطلحات موضوعية: Endocrinology, Genetics, Molecular Biology, Biochemistry, Endocrinology, Diabetes and Metabolism

الإتاحة: https://doi.org/10.1016/j.ymgme.2023.107656Test
https://api.elsevier.com/content/article/PII:S109671922300286X?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S109671922300286X?httpAccept=text/plainTest

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: Rahhal, Samar, Farmer, Cristan, Thurm, Audrey, Wassif, Christopher A., Cawley, Niamh X., Perreault, John, Dang Do, An, Bianconi, Simona, Hannah-Shmouni, Fady, Guthrie, Whitney, Cubit, Laura S., Miller, Judith S., Sutton, V. Reid, Koeberl, Dwight, Porter, Forbes D.

المصدر: Molecular Genetics and Metabolism Reports ; volume 37, page 101001 ; ISSN 2214-4269

مصطلحات موضوعية: Endocrinology, Genetics, Molecular Biology

الإتاحة: https://doi.org/10.1016/j.ymgmr.2023.101001Test
https://api.elsevier.com/content/article/PII:S2214426923000472?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2214426923000472?httpAccept=text/plainTest