المؤلفون: Julián Nevado, Sixto García-Miñaúr, María Palomares-Bralo, Elena Vallespín, Encarna Guillén-Navarro, Jordi Rosell, Cristina Bel-Fenellós, María Ángeles Mori, Montserrat Milá, Miguel del Campo, Pilar Barrúz, Fernando Santos-Simarro, Gabriela Obregón, Carmen Orellana, Harry Pachajoa, Jair Antonio Tenorio, Enrique Galán, Juan C. Cigudosa, Angélica Moresco, César Saleme, Silvia Castillo, Elisabeth Gabau, Luis Pérez-Jurado, Ana Barcia, Maria Soledad Martín, Elena Mansilla, Isabel Vallcorba, Pedro García-Murillo, Franco Cammarata-Scalisi, Natálya Gonçalves Pereira, Raquel Blanco-Lago, Mercedes Serrano, Juan Dario Ortigoza-Escobar, Blanca Gener, Verónica Adriana Seidel, Pilar Tirado, Pablo Lapunzina, Spanish PMS Working Group, Mena Rocío, Lleguer Roser, Fernández-Montaño Victoria, Martín Rubén, Fernández Blanca, García-Santiago Fé, Gómez del Pozo Victoria, Peña Carolina, Alhambra Norma, García Carlos, Rodríguez Juan Ramón, Martínez-Bermejo Antonio, Málaga Ignacio, Martínez-Monseny Antonio Federico, Armstrong Judith, Anticona Jennifer, Hernando-Davalillo Cristina, San Martí Adrián Alcalá, Martorell Loreto, Yubero Delia, Nunes Tania, Callaghan Mar O´, Alonso Xenia, Ramos Federico, López Jesús Casas, López-González Vanesa, M Juliana Ballesta, Armengol Lluís, González-Meneses Antonio, Borrego Salud, Roselló Mónica, Suela Javier, Pérez-Granero Ángeles, Rodríguez-Revenga Laia

المصدر: Frontiers in Genetics, Vol 13 (2022)

مصطلحات موضوعية: autistic behavior, 22q13 deletion syndrome, Phelan-McDermid syndrome (PMS), SHANK3, subtelomeric deletion syndrome, intellectual disabilities (ID), Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2022.652454/fullTest; https://doaj.org/toc/1664-8021Test

الوصول الحر: https://doaj.org/article/45e2ed9b52f940b0bd31664eea90cf57Test

المؤلفون: Giugliani, Roberto, 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, J. Lawrence

المصدر: Giugliani , R , Gonzalez-Meneses , A , Scarpa , M , Burton , B , Wang , R , Martins , E , Oussoren , E , Hennermann , J B , Chabrol , B , Grant , C L , Sun , A , Durand , C , Hetzer , J , Malkus , B , Marsden , D & Merritt , J L 2024 , ' Disease characteristics, effectiveness, and safety of vestronidase alfa for the treatment of patients with mucopolysaccharidosis VII in a novel, longitudinal, multicenter disease monitoring program ' , Orphanet Journal of Rare ....

مصطلحات موضوعية: /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, name=SDG 3 - Good Health and Well-being

وصف الملف: application/pdf

العلاقة: https://pure.eur.nl/en/publications/b6c5bb3a-5c83-4617-a729-a31ac28c53acTest

الإتاحة: https://doi.org/10.1186/s13023-024-03176-zTest
https://pure.eur.nl/en/publications/b6c5bb3a-5c83-4617-a729-a31ac28c53acTest
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http://www.scopus.com/inward/record.url?scp=85192269332&partnerID=8YFLogxKTest

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, vol 19, iss 1

مصطلحات موضوعية: Lysosomal storage disease, MPS VII, Mucopolysaccharidosis VII, Non-immune hydrops fetalis, β-glucuronidase deficiency, Humans, Glucuronidase, Male, Child, Preschool, Female, Enzyme Replacement Therapy, Recombinant Proteins, Infant, Longitudinal Studies, Adolescent

وصف الملف: application/pdf

العلاقة: qt8np717v2; https://escholarship.org/uc/item/8np717v2Test

الإتاحة: https://escholarship.org/uc/item/8np717v2Test

المؤلفون: Ribeiro-Constante, Juliana, Tristán-Noguero, Alba, Martínez Calvo, Fernando Francisco, Ibañez-Mico, Salvador, Peña Segura, José Luis, Ramos-Fernández, José Miguel, Moyano Chicano, María del Carmen, Camino León, Rafael, Soto Insuga, Víctor, González Alguacil, Elena, Valera Dávila, Carlos, Fernández-Jaén, Alberto, Plans, Laura, Camacho, Ana, Visa-Reñ�, Nuria, Martin-Tamayo Blázquez, María del Pilar, Paredes-Carmona, Fernando, Marti-Carrera, Itxaso, Hernández-Fabián, Aránzazu, Tomas Davi, Meritxell, Sanchez, Merce Casadesus, Herraiz, Laura Cuesta, Pita, Patricia Fuentes, Gonzalez, Teresa Bermejo, O'Callaghan, Mar, Iglesias Santa Polonia, Federico Felipe, Cazorla, María Rosario, Ferrando Lucas, María Teresa, González-Meneses, Antonio, Sala-Coromina, Júlia, Macaya, Alfons, Lasa-Aranzasti, Amaia, Cueto-González, Anna Ma, Valera Párraga, Francisca, Campistol Plana, Jaume, Serrano, Mercedes, Alonso, Xenia, Del Castillo-Berges, Diego, Schwartz-Palleja, Marc, Illescas, Sofía, Ramírez Camacho, Alia, Sans Capdevila, Oscar, García-Cazorla, Angeles, Bayés, Àlex, Alonso-Colmenero, Itziar

المصدر: Frontiers in Cell and Developmental Biology ; volume 12 ; ISSN 2296-634X

مصطلحات موضوعية: Cell Biology, Developmental Biology

الإتاحة: https://doi.org/10.3389/fcell.2024.1321282Test

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

المصدر: Genetics in Medicine Open ; volume 2, page 101157 ; ISSN 2949-7744

الإتاحة: https://doi.org/10.1016/j.gimo.2024.101157Test
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https://api.elsevier.com/content/article/PII:S2949774424003030?httpAccept=text/plainTest

المؤلفون: Antiñolo Guillermo, González-Meneses Antonio, Núñez-Torres Rocío, Fernández Raquel M, Borrego Salud

المصدر: BMC Medical Genetics, Vol 11, Iss 1, p 137 (2010)

مصطلحات موضوعية: Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://www.biomedcentral.com/1471-2350/11/137Test; https://doaj.org/toc/1471-2350Test

الوصول الحر: https://doaj.org/article/b51817bd2cf947798869227b919d174bTest

المؤلفون: Giugliani, Roberto, 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

مصطلحات موضوعية: Medicine, Neuroscience, Immunology, FOS Clinical medicine, Cancer, Infectious Diseases, FOS Health sciences

العلاقة: https://dx.doi.org/10.1016/s0022-3476Test(73)80162-3; https://dx.doi.org/10.1001/archpedi.1985.02140030059029Test; https://dx.doi.org/10.1136/jmedgenet-2015-103322Test; https://dx.doi.org/10.1002/ajmg.1320440206Test; https://dx.doi.org/10.1016/j.ymgme.2018.02.006Test; https://dx.doi.org/10.1016/j.ymgme.2020.01.003Test; https://dx.doi.org/10.1016/j.ymgme.2020.02.006Test; https://dx.doi.org/10.1016/j.jpeds.2006.12.052Test; https://dx.doi.org/10.1097/00008483-200103000-00005Test

الإتاحة: https://doi.org/10.6084/m9.figshare.2577038410.1016/s0022-3476Test(73)80162-310.1001/archpedi.1985.0214003005902910.1136/jmedgenet-2015-10332210.1002/ajmg.132044020610.1016/j.ymgme.2018.02.00610.1016/j.ymgme.2020.01.00310.1016/j.ymgme.2020.02.00610.1016/j.jpeds.2006.12.05210.1097/00008483-200103000-00005
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المؤلفون: Giugliani, Roberto, Gonzalez-Meneses, Antonio, Grant, Christina, Scarpa, Maurizio, Sun, Angela, Wang, Raymond, Hetzer, Joel, Marsden, Deborah, Merritt, J. Lawrence

المصدر: Genetics in Medicine Open ; volume 1, issue 1, page 100218 ; ISSN 2949-7744

الإتاحة: https://doi.org/10.1016/j.gimo.2023.100218Test
https://api.elsevier.com/content/article/PII:S2949774423002182?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2949774423002182?httpAccept=text/plainTest

المؤلفون: Burton, Barbara, Giugliani, Roberto, Gonzalez-Meneses, Antonio, Grant, Christina Lee, Scarpa, Maurizio, Sun, Angela, Wang, Raymond, Van der Ploeg, Ans, Martins, Esmeralda, Durand, Consuelo, Chabrol, Brigitte, Hetzer, Joel, Malkus, Betsy, Cohen, Jeanne, Marsden, Deborah, Merritt, J. Lawrence

المصدر: Molecular Genetics and Metabolism ; volume 141, issue 4, page 108212 ; ISSN 1096-7192

مصطلحات موضوعية: Endocrinology, Genetics, Molecular Biology, Biochemistry, Endocrinology, Diabetes and Metabolism

الإتاحة: https://doi.org/10.1016/j.ymgme.2024.108212Test
https://api.elsevier.com/content/article/PII:S1096719224000970?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1096719224000970?httpAccept=text/plainTest

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: Molecular Genetics and Metabolism ; volume 141, issue 2, page 108013 ; ISSN 1096-7192

مصطلحات موضوعية: Endocrinology, Genetics, Molecular Biology, Biochemistry, Endocrinology, Diabetes and Metabolism

الإتاحة: https://doi.org/10.1016/j.ymgme.2023.108013Test
https://api.elsevier.com/content/article/PII:S1096719223006431?httpAccept=text/xmlTest
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