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https://doi.org/10.1002/jimd.12024
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Título: | International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up |
Fecha de publicación: | 2019 |
Editorial: | WILEY |
Cita bibliográfica: | Journal of Inherited Metabolic Disease 2019 ,42(1):5-28. |
ISSN: | Print: 0141-8955 Electronic: 1573-2665 |
Materias relacionadas: | CDU::6 - Ciencias aplicadas::61 - Medicina |
Palabras clave: | PMM2-CDG |
Resumen: | 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. |
Autor/es principal/es: | Altassan, Ruqaiah Péanne, Romain Jaeken, Jaak Barone, Rita Borgel, Delphine Brasil, Sandra Cassiman, David Cechova, Anna Coman, David Corral, Javier Correia, Joana Morena-Barrio, María Eugenia de la Lonlay, Pascale de Dos Reis, Vanessa Ferreira, Carlos R Fiumara, Agata Francisco, Rita Freeze, Hudson Funke, Simone Gardeitchik, Thatjana Matthijs, Gert Girad, Muriel Giros, Marisa Grünewald, Stephanie Hernández-Caselles, Trinidad Honzik, Tomas Hutter, Marlen Krasnewich, Donna Lam, Christina Lee, Joy Lefeber, Dirk Marques-de-Silva, Dorinda Martinez, Antonio F Moravej, Hossein Õunap, Katrin Pascoal, Carlota Pascreau, Tiffany Patterson, Marc Quelhas, Dulce Raymond, Kimiyo Sarkhail, Peymaneh Schiff, Manuel Seroczyńska, Małgorzata Serrano, Mercedes Seta, Nathalie Sykut-Cegielska, Jolanta Thiel, Christian Tort, Federic Vals, Mari-Anne Videira, Paula Witters, Peter Zeevaert, Renate Morava, Eva |
Facultad/Departamentos/Servicios: | Facultades, Departamentos, Servicios y Escuelas::Facultades de la UMU::Facultad de Medicina |
URI: | http://hdl.handle.net/10201/138944 |
DOI: | https://doi.org/10.1002/jimd.12024 |
Tipo de documento: | info:eu-repo/semantics/article |
Número páginas / Extensión: | 24 |
Derechos: | info:eu-repo/semantics/embargoedAccess |
Descripción: | Acceso restringido |
Aparece en las colecciones: | Artículos: Bioquímica y Biología Molecular "B" e Inmunología |
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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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