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https://doi.org/10.1002/jimd.12024
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Campo DC | Valor | Lengua/Idioma |
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dc.contributor.author | Altassan, Ruqaiah | - |
dc.contributor.author | Péanne, Romain | - |
dc.contributor.author | Jaeken, Jaak | - |
dc.contributor.author | Barone, Rita | - |
dc.contributor.author | Borgel, Delphine | - |
dc.contributor.author | Brasil, Sandra | - |
dc.contributor.author | Cassiman, David | - |
dc.contributor.author | Cechova, Anna | - |
dc.contributor.author | Coman, David | - |
dc.contributor.author | Corral, Javier | - |
dc.contributor.author | Correia, Joana | - |
dc.contributor.author | Morena-Barrio, María Eugenia de la | - |
dc.contributor.author | Lonlay, Pascale de | - |
dc.contributor.author | Dos Reis, Vanessa | - |
dc.contributor.author | Ferreira, Carlos R | - |
dc.contributor.author | Fiumara, Agata | - |
dc.contributor.author | Francisco, Rita | - |
dc.contributor.author | Freeze, Hudson | - |
dc.contributor.author | Funke, Simone | - |
dc.contributor.author | Gardeitchik, Thatjana | - |
dc.contributor.author | Matthijs, Gert | - |
dc.contributor.author | Girad, Muriel | - |
dc.contributor.author | Giros, Marisa | - |
dc.contributor.author | Grünewald, Stephanie | - |
dc.contributor.author | Hernández-Caselles, Trinidad | - |
dc.contributor.author | Honzik, Tomas | - |
dc.contributor.author | Hutter, Marlen | - |
dc.contributor.author | Krasnewich, Donna | - |
dc.contributor.author | Lam, Christina | - |
dc.contributor.author | Lee, Joy | - |
dc.contributor.author | Lefeber, Dirk | - |
dc.contributor.author | Marques-de-Silva, Dorinda | - |
dc.contributor.author | Martinez, Antonio F | - |
dc.contributor.author | Moravej, Hossein | - |
dc.contributor.author | Õunap, Katrin | - |
dc.contributor.author | Pascoal, Carlota | - |
dc.contributor.author | Pascreau, Tiffany | - |
dc.contributor.author | Patterson, Marc | - |
dc.contributor.author | Quelhas, Dulce | - |
dc.contributor.author | Raymond, Kimiyo | - |
dc.contributor.author | Sarkhail, Peymaneh | - |
dc.contributor.author | Schiff, Manuel | - |
dc.contributor.author | Seroczyńska, Małgorzata | - |
dc.contributor.author | Serrano, Mercedes | - |
dc.contributor.author | Seta, Nathalie | - |
dc.contributor.author | Sykut-Cegielska, Jolanta | - |
dc.contributor.author | Thiel, Christian | - |
dc.contributor.author | Tort, Federic | - |
dc.contributor.author | Vals, Mari-Anne | - |
dc.contributor.author | Videira, Paula | - |
dc.contributor.author | Witters, Peter | - |
dc.contributor.author | Zeevaert, Renate | - |
dc.contributor.author | Morava, Eva | - |
dc.contributor.other | Facultades, Departamentos, Servicios y Escuelas::Facultades de la UMU::Facultad de Medicina | es |
dc.date.accessioned | 2024-02-08T08:00:14Z | - |
dc.date.available | 2024-02-08T08:00:14Z | - |
dc.date.issued | 2019 | - |
dc.identifier.citation | Journal of Inherited Metabolic Disease 2019 ,42(1):5-28. | es |
dc.identifier.issn | Print: 0141-8955 | - |
dc.identifier.issn | Electronic: 1573-2665 | - |
dc.identifier.uri | http://hdl.handle.net/10201/138944 | - |
dc.description | Acceso restringido | - |
dc.description.abstract | Phosphomannomutase 2 (PMM2-CDG) is the most common congenital disorder of N-glycosylation and is caused by a deficient PMM2 activity. The clinical presentation and the onset of PMM2-CDG vary among affected individuals ranging from a severe antenatal presentation with multisystem involvement to mild adulthood presentation limited to minor neurological involvement. Management of affected patients requires a multidisciplinary approach. In this article, a systematic review of the literature on PMM2-CDG was conducted by a group of international experts in different aspects of CDG. Our managment guidelines were initiated based on the available evidence-based data and experts' opinions. This guideline mainly addresses the clinical evaluation of each system/organ involved in PMM2-CDG, and the recommended management approach. It is the first systematic review of current practices in PMM2-CDG and the first guidelines aiming at establishing a practical approach to the recognition, diagnosis and management of PMM2-CDG patients. | es |
dc.format | application/pdf | es |
dc.format.extent | 24 | es |
dc.language | eng | es |
dc.publisher | WILEY | es |
dc.relation | Metabolic ERN (MetabERN) | es |
dc.rights | info:eu-repo/semantics/embargoedAccess | es |
dc.subject | PMM2-CDG | es |
dc.subject.other | CDU::6 - Ciencias aplicadas::61 - Medicina | es |
dc.title | International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up | es |
dc.type | info:eu-repo/semantics/article | es |
dc.embargo.terms | Si | - |
dc.identifier.doi | https://doi.org/10.1002/jimd.12024 | - |
Aparece en las colecciones: | Artículos: Bioquímica y Biología Molecular "B" e Inmunología |
Ficheros en este ítem:
Fichero | Descripción | Tamaño | Formato | |
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10.1002@jimd.12024.pdf | 2,57 MB | Adobe PDF | Visualizar/Abrir Solicitar una copia |
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