International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up
- Altassan, R.
- Peanne, R.
- Jaeken, J.
- Barone, R.
- Bidet, M.
- Borgel, D.
- Brasil, S.
- Cassiman, D.
- Cechova, A.
- Coman, D.
- Corral, J.
- Correia, J.
- Morena-Barrio, M.E. de la
- Lonlay, P. de
- Reis, V. Dos
- Ferreira, C.R.
- Fiumara, A.
- Francisco, R.
- Freeze, H.
- Funke, S.
- Gardeitchik, T.
- Gert, M.
- Girad, M.
- Giros, M.
- Grunewald, S.
- Hernandez-Caselles, T.
- Honzik, T.
- Hutter, M.
- Krasnewich, D.
- Lam, C.
- Lee, J.
- Lefeber, D.J.
- Marques-de-Silva, D.
- Martinez, A.F.
- Moravej, H.
- Ounap, K.
- Pascoal, C.
- Pascreau, T.
- Patterson, M.
- Quelhas, D.
- Raymond, K.
- Sarkhail, P.
- Schiff, M.
- Seroczynska, M.
- Serrano, M.
- Seta, N.
- Sykut-Cegielska, J.
- Thiel, C
- Tort, F.
- Vals, M.A.
- Videira, P.
- Witters, P.
- Zeevaert, R.
- Morava, E.
DOIAbstract
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 ea...
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