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1دورية أكاديمية
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
URL الوصول: https://escholarship.org/uc/item/39n7s551
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2دورية أكاديمية
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.Aff2, IDs12864023095615_cor9, Mudunuri, Uma S.Aff1, IDs12864023095615_cor10
المصدر: BMC Genomics. 24(1)
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3دورية أكاديمية
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.Aff2, IDs4036402300448x_cor14
المصدر: Biomarker Research. 11(1)
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4دورية أكاديمية
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: In Molecular Genetics and Metabolism Reports December 2023 37
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5دورية أكاديمية
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.
المصدر: In Molecular Genetics and Metabolism November 2023 140(3)
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6دورية أكاديمية
المؤلفون: Solomon, Beth I.Aff1, IDs13023024032417_cor1, Muñoz, Andrea M., Sinaii, Ninet, Mohamed, Hibaaq, Farhat, Nicole M., Alexander, Derek, Do, An Dang, Porter, Forbes D.
المصدر: Orphanet Journal of Rare Diseases. 19(1)
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7دورية أكاديمية
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
URL الوصول: https://escholarship.org/uc/item/2bq4g22b
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8دورية أكاديمية
المؤلفون: Laqtom, Nouf N.Aff1, Aff2, Aff3, Dong, WentaoAff1, Aff2, Aff3, Medoh, Uche N.Aff1, Aff2, Aff3, Aff4, Cangelosi, Andrew L.Aff5, Aff6, Aff7, Dharamdasani, Vimisha, Chan, Sze HamAff7, Aff11, Kunchok, Tenzin, Lewis, Caroline A., Heinze, Ivonne, Tang, Rachel, Grimm, Christian, Dang Do, An N., Porter, Forbes D., Ori, Alessandro, Sabatini, David M., Abu-Remaileh, MontherAff1, Aff2, Aff3, IDs4158602205221y_cor16
المصدر: Nature: International weekly journal of science. 609(7929):1005-1011
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9دورية أكاديمية
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.
المصدر: In Genetics in Medicine March 2023 25(3)
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10دورية أكاديمية
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
URL الوصول: https://escholarship.org/uc/item/71b6c1z9