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International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up

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dc.contributor.authorAltassan, Ruqaiah
dc.contributor.authorPéanne, Romain
dc.contributor.authorJaeken, Jaak
dc.contributor.authorBarone, Rita
dc.contributor.authorBorgel, Delphine
dc.contributor.authorBrasil, Sandra
dc.contributor.authorCassiman, David
dc.contributor.authorCechova, Anna
dc.contributor.authorComan, David
dc.contributor.authorCorral, Javier
dc.contributor.authorCorreia, Joana
dc.contributor.authorMorena-Barrio, María Eugenia de la
dc.contributor.authorLonlay, Pascale de
dc.contributor.authorDos Reis, Vanessa
dc.contributor.authorFerreira, Carlos R
dc.contributor.authorFiumara, Agata
dc.contributor.authorFrancisco, Rita
dc.contributor.authorFreeze, Hudson
dc.contributor.authorFunke, Simone
dc.contributor.authorGardeitchik, Thatjana
dc.contributor.authorMatthijs, Gert
dc.contributor.authorGirad, Muriel
dc.contributor.authorGiros, Marisa
dc.contributor.authorGrünewald, Stephanie
dc.contributor.authorHonzik, Tomas
dc.contributor.authorHutter, Marlen
dc.contributor.authorKrasnewich, Donna
dc.contributor.authorLam, Christina
dc.contributor.authorLee, Joy
dc.contributor.authorLefeber, Dirk
dc.contributor.authorMarques-de-Silva, Dorinda
dc.contributor.authorMartinez, Antonio F
dc.contributor.authorMoravej, Hossein
dc.contributor.authorÕunap, Katrin
dc.contributor.authorPascoal, Carlota
dc.contributor.authorPascreau, Tiffany
dc.contributor.authorPatterson, Marc
dc.contributor.authorQuelhas, Dulce
dc.contributor.authorRaymond, Kimiyo
dc.contributor.authorSarkhail, Peymaneh
dc.contributor.authorSchiff, Manuel
dc.contributor.authorSeroczyńska, Małgorzata
dc.contributor.authorSerrano, Mercedes
dc.contributor.authorSeta, Nathalie
dc.contributor.authorSykut-Cegielska, Jolanta
dc.contributor.authorThiel, Christian
dc.contributor.authorTort, Federic
dc.contributor.authorVals, Mari-Anne
dc.contributor.authorVideira, Paula
dc.contributor.authorWitters, Peter
dc.contributor.authorZeevaert, Renate
dc.contributor.authorMorava, Eva
dc.contributor.authorHernández Caselles, Trinidad
dc.contributor.departmentBioquímica y Biología Molecular B e Inmunología
dc.date.accessioned2024-02-08T08:00:14Z
dc.date.available2024-02-08T08:00:14Z
dc.date.copyright© 2019 SSIEM
dc.date.issued2019
dc.description.abstractPhosphomannomutase 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.formatapplication/pdfes
dc.format.extent24es
dc.identifier.citationJournal of Inherited Metabolic Disease 2019 ,42(1):5-28.
dc.identifier.doihttps://doi.org/10.1002/jimd.12024
dc.identifier.issnPrint: 0141-8955
dc.identifier.issnElectronic: 1573-2665
dc.identifier.urihttp://hdl.handle.net/10201/138944
dc.languageenges
dc.publisherWILEYes
dc.relationMetabolic ERN (MetabERN)es
dc.rights.accessRightsinfo:eu-repo/semantics/restrictedAccess
dc.subjectPMM2-CDGes
dc.subject.otherCDU::6 - Ciencias aplicadas::61 - Medicinaes
dc.titleInternational clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow upes
dc.typeinfo:eu-repo/semantics/articlees
dspace.entity.typePublicationes
relation.isAuthorOfPublicationc0416b92-3bd1-4c0a-bd7c-df5ae58f3f63
relation.isAuthorOfPublication.latestForDiscoveryc0416b92-3bd1-4c0a-bd7c-df5ae58f3f63
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