المؤلفون: Wallace, Eric, Goker-Alpan, Ozlem, Wilcox, William, Holida, Myrl, Bernat, John, Longo, Nicola, Linhart, Aleš, Hughes, Derralynn, Hopkin, Robert, Tøndel, Camilla, Langeveld, Mirjam, Giraldo, Pilar, Pisani, Antonio, Germain, Dominique, Mehta, Ankit, Deegan, Patrick, Molnar, Maria, Ortiz, Damara, Jovanovic, Ana, Muriello, Michael, Vujkovac, Bojan, Nowak, Albina, Geberhiwot, Tarekegn, Kantola, Ilkka, Knoll, Jasmine, Waldek, Stephen, Nedd, Khan, Karaa, Amel, Brill-Almon, Einat, Alon, Sari, Chertkoff, Raul, Rocco, Rossana, Sakov, Anat, Warnock, David, Kimonis, Virginia, Barshop, Bruce

المصدر: Journal of Medical Genetics. 61(6)

مصطلحات موضوعية: Drug-Related Side Effects and Adverse Reactions, Fabry Disease, Genetic Diseases, Inborn, Genetic Diseases, X-Linked, alpha-Galactosidase, Humans, Fabry Disease, Male, alpha-Galactosidase, Adult, Female, Middle Aged, Glomerular Filtration Rate, Enzyme Replacement Therapy, Isoenzymes, Recombinant Proteins, Adolescent, Young Adult, Treatment Outcome

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المؤلفون: Baker, Elizabeth K.^{Aff1, Aff2}, Han, Jingfen, Langley, William A., Reott, Jr., Michael A., Hallinan, Barbara E.^{Aff2, Aff4}, Hopkin, Robert J.^{Aff1, Aff2}, Zhang, Wenying^{Aff1, Aff2, IDs0043802302044y_cor7}

المصدر: Molecular Genetics and Genomics. 298(5):1185-1199

المؤلفون: Wanner, Christoph, Ortiz, Alberto, Wilcox, William R., Hopkin, Robert J., Johnson, Jack, Ponce, Elvira, Ebels, Johan T., Batista, Julie L., Maski, Manish, Politei, Juan M., Martins, Ana Maria, Banikazemi, Maryam, Linhart, Aleš, Mauer, Michael, Oliveira, João P., Weidemann, Frank, Germain, Dominique P.

المصدر: In Molecular Genetics and Metabolism July 2023 139(3)

المؤلفون: Russell, Bianca E, Rigueur, Diana, Weaver, Kathryn N, Sund, Kristen, Basil, Janet S, Hufnagel, Robert B, Prows, Cynthia A, Oestreich, Alan, Al‐Gazali, Lihadh, Hopkin, Robert J, Saal, Howard M, Lyons, Karen, Dauber, Andrew

المصدر: Molecular Genetics & Genomic Medicine. 7(11)

مصطلحات موضوعية: Biological Sciences, Genetics, Cardiovascular, Pediatric, Congenital Structural Anomalies, Heart Disease, 2.1 Biological and endogenous factors, Aetiology, Abnormalities, Multiple, Adult, Bone Diseases, Developmental, Bone Morphogenetic Protein Receptors, Type I, Cartilage, Craniofacial Abnormalities, Developmental Disabilities, Female, Homozygote, Humans, Infant, Intestinal Polyposis, Male, Muscular Atrophy, Mutation, Missense, Neoplastic Syndromes, Hereditary, Pedigree, Phenotype, Prognosis, atrial septal defect, BMP, bmpr1a protein, bone morphogenetic protein, human, Medicinal and Biomolecular Chemistry, Clinical Sciences, Medicinal and biomolecular chemistry

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URL الوصول: https://escholarship.org/uc/item/634681f4

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المؤلفون: Warnock, David, Eric, Wallace, Schiffmann, Raphael, Holida, Myrl, Goker-Alpan, Ozlem, Hopkin, Robert, Giraldo, Pilar, Khan, Nedd, Vujkovac, Bojan, Wilcox, William, Linhart, Ales, Tøndel, Camilla, Barshop, Bruce A, Karaa, Amel, Molnar, Maria Judit, Deegan, Patrick, Vockley, Jerry, Rhead, William, Kimonis, Virginia, Chertkoff, Raul, Longo, Nicola

المصدر: Molecular Genetics and Metabolism. 126(2)

مصطلحات موضوعية: Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/0ws6k665

المؤلفون: Sebok, Agnes, Pestronk, Alan, Dominovic-Kovacevic, Aleksandra, Khan, Aneal, Koritnik, Blaž, Tard, Celine, Lindberg, Christopher, Quinn, Colin, Kornblum, Cornelia, Eldridge, Crystal, Bodkin, Cynthia, Reyes-Leiva, David, Hughes, Derralynn, Stefanescu, Ela, SALORT-CAMPANA, Emmanuelle, Butler, Ernest, Bouhour, Francoise, Kim, Gee, Konstantinos Papadimas, George, Parenti, Giancarlo, Bartosik-Psujek, Halina, Kushlaf, Hani, Akihiro, Hashiguchi, Lau, Heather, Pedro, Helio, Andersen, Henning, Amartino, Hernan, Shiraishi, Hideaki, Kobayashi, Hiroshi, Tarnev, Ivaylo, Vengoechea, Jaime, Avelar, Jennifer, Shin, Jin-Hong, Cauci, Jonathan, Alonso-Pérez, Jorge, Janszky, Jozsef, Berthy, Julie, Gutschmidt, Kristina, Claeys, Kristl, Judit Molnar, Maria, Wencel, Marie, Tarnopolsky, Mark, Dimachkie, Mazen, Tchan, Michel, Freimer, Miriam, Longo, Nicola, Vidal-Fernandez, Nuria, Musumeci, Olimpia, Goker-Alpan, Ozlem, Deegan, Patrick, Clemens, Paula R., Roxburgh, Richard, Henderson, Robert, Hopkin, Robert, Sacconi, Sabrina, Fecarotta, Simona, Attarian, Shahram, Wenninger, Stephan, Dearmey, Stephanie, Hiwot, Tarekegn, Burrow, Thomas, Ruck, Tobias, Sawada, Tomo, Laszlo, Vescei, Löscher, Wolfgang, Chien, Yin-Hsiu, Schoser, Benedikt ^{*, *}, Roberts, Mark ^*, Byrne, Barry J, Sitaraman, Sheela, Jiang, Hai, Laforêt, Pascal, Toscano, Antonio, Castelli, Jeff, Díaz-Manera, Jordi, Goldman, Mitchell, van der Ploeg, Ans T, Bratkovic, Drago, Kuchipudi, Srilakshmi, Mozaffar, Tahseen ^†, Kishnani, Priya S ^†

المصدر: In The Lancet Neurology December 2021 20(12):1027-1037

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