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1دورية أكاديمية
المؤلفون: Harb, Jerry F, Christensen, Chloe L, Kan, Shih-Hsin, Rha, Allisandra K, Andrade-Heckman, Perla, Pollard, Laura, Steet, Richard, Huang, Jeffrey Y, Wang, Raymond Y
مصطلحات موضوعية: Biochemistry and Cell Biology, Biological Sciences, Genetics, Good Health and Well Being, CRISPR-Cas9, MT: RNA/DNA editing, SLC17A5, Salla, free sialic acid storage disease, Clinical Sciences, Biochemistry and cell biology
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/8dq509q4
https://escholarship.org/content/qt8dq509q4/qt8dq509q4.pdf -
2دورية أكاديمية
المؤلفون: Montaño, Adriana M, Różdżyńska-Świątkowska, Agnieszka, Jurecka, Agnieszka, Ramirez, Antonio Nino, Zhang, Lin, Marsden, Deborah, Wang, Raymond Y, Harmatz, Paul
المصدر: Molecular genetics and metabolism reports. 36(Hum. Genet. 98 1996)
مصطلحات موضوعية: Growth, Height, MPS VII, Weight, BMI, Clinical Research, Prevention, Clinical Trials and Supportive Activities, Rare Diseases, 6.1 Pharmaceuticals, Evaluation of treatments and therapeutic interventions, Biochemistry and Cell Biology, Genetics
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/0gb3b2h9
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3دورية 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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4دورية أكاديمية
المؤلفون: Tillo, Miguel, Lamanna, William C, Dwyer, Chrissa A, Sandoval, Daniel R, Pessentheiner, Ariane R, Al-Azzam, Norah, Sarrazin, Stéphane, Gonzales, Jon C, Kan, Shih-Hsin, Andreyev, Alexander Y, Schultheis, Nicholas, Thacker, Bryan E, Glass, Charles A, Dickson, Patricia I, Wang, Raymond Y, Selleck, Scott B, Esko, Jeffrey D, Gordts, Philip LSM
المصدر: Journal of Biological Chemistry. 298(8)
مصطلحات موضوعية: Biochemistry and Cell Biology, Biomedical and Clinical Sciences, Biological Sciences, Mucopolysaccharidoses (MPS), Obesity, Rare Diseases, Digestive Diseases, Nutrition, Aetiology, 2.1 Biological and endogenous factors, Metabolic and endocrine, Affordable and Clean Energy, Adipose Tissue, Brown, Animals, Cachexia, Hypertriglyceridemia, Mice, Mitophagy, Mucopolysaccharidosis III, Triolein, autophagy, dyslipidemia, hyperthermia, mitochondria, mucopolysaccharidoses, sulfamidase, Chemical Sciences, Medical and Health Sciences, Biochemistry & Molecular Biology, Biological sciences, Biomedical and clinical sciences, Chemical sciences
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/90c4v3np
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5دورية أكاديمية
المؤلفون: Christensen, Chloe L., Kan, Shih-Hsin, Andrade-Heckman, Perla, Rha, Allisandra K., Harb, Jerry F., Wang, Raymond Y.
المصدر: In Molecular Therapy - Nucleic Acids 11 June 2024 35(2)
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6دورية أكاديمية
المؤلفون: Kenney-Jung, Daniel, Korlimarla, Aditi, Spiridigliozzi, Gail A., Wiggins, Walter, Malinzak, Michael, Nichting, Gretchen, Jung, Seung-Hye, Sun, Angela, Wang, Raymond Y., Al Shamsi, Aisha, Phornphutkul, Chanika, Owens, James, Provenzale, James M., Kishnani, Priya S.
المصدر: In Molecular Genetics and Metabolism February 2024 141(2)
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7دورية أكاديمية
المؤلفون: Kan, Shih-hsin, Huang, Jeffrey Y, Harb, Jerry, Rha, Allisandra, Dalton, Nancy D, Christensen, Chloe, Chan, Yunghang, Davis-Turak, Jeremy, Neumann, Jonathan, Wang, Raymond Y
المصدر: Scientific Reports. 12(1)
مصطلحات موضوعية: Medical Physiology, Biomedical and Clinical Sciences, Liver Disease, Chronic Liver Disease and Cirrhosis, Biotechnology, Pediatric, Orphan Drug, Digestive Diseases, Genetics, Rare Diseases, 2.1 Biological and endogenous factors, Aetiology, Good Health and Well Being, Animals, Humans, Infant, Mice, alpha-Glucosidases, Cardiomyopathy, Hypertrophic, Disease Models, Animal, Glucan 1, 4-alpha-Glucosidase, Glycogen, Glycogen Storage Disease Type II, Muscle, Skeletal
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/6qh1q5zp
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8دورية أكاديمية
المؤلفون: Mole, Sara E, Schulz, Angela, Badoe, Eben, Berkovic, Samuel F, de Los Reyes, Emily C, Dulz, Simon, Gissen, Paul, Guelbert, Norberto, Lourenco, Charles M, Mason, Heather L, Mink, Jonathan W, Murphy, Noreen, Nickel, Miriam, Olaya, Joffre E, Scarpa, Maurizio, Scheffer, Ingrid E, Simonati, Alessandro, Specchio, Nicola, Von Löbbecke, Ina, Wang, Raymond Y, Williams, Ruth E
المصدر: Orphanet Journal of Rare Diseases. 16(1)
مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Clinical Sciences, Genetics, Brain Disorders, Neurodegenerative, Neurosciences, Clinical Research, 7.3 Management and decision making, Management of diseases and conditions, Good Health and Well Being, Consensus, Humans, Neuronal Ceroid-Lipofuscinoses, Tripeptidyl-Peptidase 1, Expert mapping, Guideline development program, CLN2, Batten, Neurodegenerative disorder, Key Opinion Leader, Modified-Delphi, Other Medical and Health Sciences, Genetics & Heredity, Clinical sciences
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/1q46m0ft
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9دورية أكاديمية
المؤلفون: Harb, Jerry F., Christensen, Chloe L., Kan, Shih-Hsin, Rha, Allisandra K., Andrade-Heckman, Perla, Pollard, Laura, Steet, Richard, Huang, Jeffrey Y., Wang, Raymond Y.
المصدر: In Molecular Therapy - Nucleic Acids 12 December 2023 34
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10دورية أكاديمية
المؤلفون: Huizing, Marjan, Hackbarth, Mary E, Adams, David R, Wasserstein, Melissa, Patterson, Marc C, Walkley, Steven U, Gahl, William A, Dobrenis, Kostantin, Foglio, Jessica, Gasnier, Bruno, Hackbarth, Mary, Lek, Monkol, Malicdan, May CV, Paavola, Liisa E, Reimer, Richard, Wang, Raymond Y, Zoncu, Roberto
مصطلحات موضوعية: Biochemistry and Cell Biology, Biomedical and Clinical Sciences, Biological Sciences, Rare Diseases, Pediatric, Clinical Research, Neurodegenerative, Brain Disorders, Intellectual and Developmental Disabilities (IDD), Neurosciences, 2.1 Biological and endogenous factors, Aetiology, Neurological, Animals, Genetic Therapy, Humans, N-Acetylneuraminic Acid, Organic Anion Transporters, Sialic Acid Storage Disease, Stem Cell Transplantation, Symporters, Hypomyelination, Infantile sialic acid storage disorder, Lysosomal membrane transporter, N-acetylneuraminic acid, Salla disease, Sialic acid, SLC17A5, FSASD Consortium, Psychology, Cognitive Sciences, Biochemistry and cell biology, Biological psychology
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/1sw1p33w