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dc.contributor.authorAltassan, Ruqaiah
dc.contributor.authorPeanne, Romain
dc.contributor.authorJaeken, Jaak
dc.contributor.authorBarone, Rita
dc.contributor.authorBidet, Muad
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.authorde la Morena-Barrio, Maria Eugenia
dc.contributor.authorde Lonlay, Pascale
dc.contributor.authoret al.
dc.description.abstract© 2019 SSIEM 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.
dc.relation.ispartofjournalJournal of Inherited Metabolic Disease
dc.subject.fieldofresearchClinical sciences
dc.subject.keywordsScience & Technology
dc.subject.keywordsLife Sciences & Biomedicine
dc.subject.keywordsEndocrinology & Metabolism
dc.subject.keywordsGenetics & Heredity
dc.subject.keywordsMedicine, Research & Experimental
dc.titleInternational clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up
dc.typeJournal article
dc.type.descriptionC1 - Articles
dcterms.bibliographicCitationAltassan, et al., International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up, Journal of Inherited Metabolic Disease, 2019, 42 (1), pp. 5-28
gro.hasfulltextNo Full Text
gro.griffith.authorComan, Dave J.

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