International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up
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Publication year
2019Author(s)
Source
Journal of Inherited Metabolic Disease, 42, 1, (2019), pp. 5-28ISSN
Publication type
Article / Letter to editor
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Organization
Paediatrics
Human Genetics
Laboratory Medicine
Neurology
Journal title
Journal of Inherited Metabolic Disease
Volume
vol. 42
Issue
iss. 1
Page start
p. 5
Page end
p. 28
Subject
Radboudumc 3: Disorders of movement DCMN: Donders Center for Medical Neuroscience; Radboudumc 6: Metabolic Disorders RIMLS: Radboud Institute for Molecular Life SciencesAbstract
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.
This item appears in the following Collection(s)
- Academic publications [238441]
- Electronic publications [122541]
- Faculty of Medical Sciences [90373]
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