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1دورية 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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2دورية أكاديمية
المؤلفون: Giugliani, RobertoAff1, IDs1302302403176z_cor1, Gonzalez-Meneses, Antonio, Scarpa, Maurizio, Burton, Barbara, Wang, Raymond, Martins, Esmeralda, Oussoren, Esmeralda, Hennermann, Julia B., Chabrol, Brigitte, Grant, Christina L., Sun, Angela, Durand, Consuelo, Hetzer, Joel, Malkus, Betsy, Marsden, Deborah, Merritt II, J. Lawrence
المصدر: Orphanet Journal of Rare Diseases. 19(1)
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3دورية أكاديمية
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4دورية أكاديمية
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5دورية أكاديمية
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6دورية أكاديمية
المؤلفون: Montaño, Adriana M, Lock-Hock, Ngu, Steiner, Robert D, Graham, Brett H, Szlago, Marina, Greenstein, Robert, Pineda, Mercedes, Gonzalez-Meneses, Antonio, Çoker, Mahmut, Bartholomew, Dennis, Sands, Mark S, Wang, Raymond, Giugliani, Roberto, Macaya, Alfons, Pastores, Gregory, Ketko, Anastasia K, Ezgü, Fatih, Tanaka, Akemi, Arash, Laila, Beck, Michael, Falk, Rena E, Bhattacharya, Kaustuv, Franco, José, White, Klane K, Mitchell, Grant A, Cimbalistiene, Loreta, Holtz, Max, Sly, William S
المصدر: Journal of Medical Genetics. 53(6)
مصطلحات موضوعية: Paediatrics, Biomedical and Clinical Sciences, Rare Diseases, Intellectual and Developmental Disabilities (IDD), Brain Disorders, Pediatric, Clinical Research, Mucopolysaccharidoses (MPS), Aetiology, 2.1 Biological and endogenous factors, Good Health and Well Being, Adolescent, Adult, Child, Child, Preschool, Female, Glucuronidase, Humans, Infant, Lysosomal Storage Diseases, Male, Mucopolysaccharidosis VII, Phenotype, Surveys and Questionnaires, Young Adult, Clinical genetics, Genetics, Metabolic disorders, Biological Sciences, Medical and Health Sciences, Genetics & Heredity, Clinical sciences
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/2g54h4x6
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7دورية أكاديمية
المؤلفون: Malkus, Betsy C., Cohen, Jeanne M., Grant, Christina L., Scarpa, Maurizio, Sun, Angela, Wang, Raymond Y., Burton, Barbara K., Oussoren, Esmeralda, Martins, Esmeralda E., Durand, Consuelo, Chabrol, Brigitte, Ortiz, Lionel, Hetzer, Joel, Marsden, Deborah, Merritt, J. Lawrence, II, Giugliani, Roberto, Gonzalez-Meneses, Antonio
المصدر: In Molecular Genetics and Metabolism February 2024 141(2)
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8دورية أكاديمية
المؤلفون: Ramachandran, Shyam, Hogestyn, Jessica, Ayloo, Swathi, Ryu, Jae, Ardinger, Jeffery, Ramos, MiAngela, Blatnik, Lydia, Nass, Shelley, Goulet, Martin, Mueller, Christian, Gonzalez-Meneses, Antonio
المصدر: In Molecular Genetics and Metabolism February 2024 141(2)
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9دورية أكاديمية
المؤلفون: Giugliani, Roberto, Grant, Christina L., Scarpa, Maurizio, Sun, Angela, Wang, Raymond Y., Burton, Barbara K., Oussoren, Esmeralda, Durand, Consuelo, Martins, Esmeralda E., Chabrol, Brigitte, Hetzer, Joel, Marsden, Deborah, Merritt, J. Lawrence, II, Gonzalez-Meneses, Antonio
المصدر: In Molecular Genetics and Metabolism February 2024 141(2)
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10دورية أكاديمية
المؤلفون: Giugliani, Roberto, Gonzalez-Meneses, Antonio, Grant, Christina, Scarpa, Maurizio, Sun, Angela, Wang, Raymond, Burton, Barbara, van der Ploeg, Ans, Martins, Esmeralda, Durand, Consuelo, Chabrol, Brigitte, Hetzer, Joel, Marsden, Deborah, Merritt, J. Lawrence, II
المصدر: In Genetics in Medicine Open 2024 2 Supplement 1