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1تقرير
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2دورية أكاديمية
المؤلفون: Boyer, Monica, Sowa, Mary, Wang, Raymond, Abdenur, Jose
المصدر: Journal of Inborn Errors of Metabolism and Screening. January 2019 7
مصطلحات موضوعية: ISOD, SUOX, sulfocysteine, hypoxic ischemic encephalopathy, methionine restriction
وصف الملف: text/html
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3دورية أكاديمية
المؤلفون: Martins, Esmeralda, Oussoren, Esmeralda, Hennermann, Julia, Chabrol, Brigitte, Grant, Christina, Sun, Angela, Durand, Consuelo, Hetzer, Joel, Malkus, Betsy, Marsden, Deborah, Merritt Ii, J, Giugliani, Roberto, Gonzalez-Meneses, Antonio, Scarpa, Maurizio, Burton, Barbara, Wang, Raymond
المصدر: Orphanet Journal of Rare Diseases. 19(1)
مصطلحات موضوعية: Lysosomal storage disease, MPS VII, Mucopolysaccharidosis VII, Non-immune hydrops fetalis, β-glucuronidase deficiency, Humans, Mucopolysaccharidosis VII, Glucuronidase, Male, Child, Preschool, Female, Child, Enzyme Replacement Therapy, Recombinant Proteins, Infant, Longitudinal Studies, Adolescent
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/8np717v2
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4دورية أكاديمية
المؤلفون: Sohn, Young, Wang, Raymond, Ashworth, Jane, Broqua, Pierre, Tallandier, Mireille, Abitbol, Jean-Louis, Jozwiak, Erin, Pollard, Laura, Wood, Timothy, Aslam, Tariq, Harmatz, Paul
مصطلحات موضوعية: Carotid intima media thickness, Corneal opacification measurements, Leukocyte GAG, Mucopolysaccharidosis type VI, Skin GAG
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/9vd4s3z0
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5مؤتمر
المؤلفون: Frickey, Robert, Doller, Joseph, Norton, Robert, Sancho, Roman, Sayyad, Rakhshanda, Ustinov, Dmitry, Wang, Raymond, Xu, Harvey
المصدر: 2024 IEEE International Reliability Physics Symposium (IRPS) International Reliability Physics Symposium (IRPS), 2024 IEEE. :3A.1-1-3A.1-7 Apr, 2024
Relation: 2024 IEEE International Reliability Physics Symposium (IRPS)
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6دورية أكاديمية
المؤلفون: Desai, Ankit, Shrivastava, Garima, Grant, Christina, Wang, Raymond, Burt, Trevor, Kishnani, Priya
مصطلحات موضوعية: Pompe disease, alglucosidase alfa, anti-drug antibodies, anti-rhGAA IgG antibodies, bortezomib, entrenched immune tolerance induction, enzyme replacement therapy, Humans, Infant, Newborn, Bortezomib, Glycogen Storage Disease Type II, Immunoglobulins, Intravenous, Immunomodulation, Methotrexate, Treatment Outcome
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/18d7j2mk
https://escholarship.org/content/qt18d7j2mk/qt18d7j2mk.pdf -
7دورية 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 -
8دورية أكاديمية
المؤلفون: Karkanitsa, Maria, Ungerleider, Jessica, Zelus, Emma, Zhang, Yuxue, Kawakami, Yu, Kawakami, Yuko, Kawakami, Toshiaki, Wang, Raymond, Christman, Karen, Mesfin, Joshua
المصدر: NPJ Regenerative Medicine. 8(1)
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/55f4v1cv
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9دورية 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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10دورية أكاديمية
المؤلفون: Christensen, Chloe, Heckman, Perla, Rha, Allisandra, Kan, Shih-Hsin, Harb, Jerry, Wang, Raymond
مصطلحات موضوعية: Humans, Glycogen Storage Disease Type II, alpha-Glucosidases, Genotype, Mutation, Induced Pluripotent Stem Cells, Induced pluripotent stem cells, Lysosomal storage disorder, Pompe disease, Sendai virus, Stem Cell Research - Induced Pluripotent Stem Cell - Human, Chronic Liver Disease and Cirrhosis, Liver Disease, Genetics, Digestive Diseases, Rare Diseases, Stem Cell Research, Stem Cell Research - Induced Pluripotent Stem Cell, 2.1 Biological and endogenous factors, Aetiology, Biological Sciences, Medical and Health Sciences, Developmental Biology
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/4ds0566v