Publication: International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up
Authors
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 ; 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 ; Hernández Caselles, Trinidad
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Publisher
WILEY
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DOI
https://doi.org/10.1002/jimd.12024
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info:eu-repo/semantics/article
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.
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Citation
Journal of Inherited Metabolic Disease 2019 ,42(1):5-28.
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