International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up
| Autor: | Tomas Honzik, Antonio F. Martinez, Federic Tort, David Cassiman, Joana Correia, Christian Thiel, Simone Funke, Mari Anne Vals, Carlota Pascoal, Hossein Moravej, Katrin Õunap, Rita Barone, Marlen Hutter, Małgorzata Seroczyńska, Hudson H. Freeze, Ruqaiah Altassan, María Eugenia de la Morena-Barrio, Anna Cechova, Kimiyo Raymond, Dulce Quelhas, Carlos Ferreira, Matthijs Gert, Delphine Borgel, Trinidad Hernández-Caselles, David Coman, Romain Péanne, Paula A. Videira, Renate Zeevaert, Dorinda Marques-da-Silva, Stephanie Grunewald, Nathalie Seta, Javier Corral, Muad Bidet, Rita Francisco, Mercedes Serrano, Jaak Jaeken, Peter Witters, Manuel Schiff, Thatjana Gardeitchik, Joy Lee, Peymaneh Sarkhail, Christina Lam, Agata Fiumara, Pascale de Lonlay, Tiffany Pascreau, Sandra Brasil, Muriel Girad, Eva Morava, Dirk Lefeber, Marc C. Patterson, Marisa Giros, Donna M. Krasnewich, Jolanta Sykut-Cegielska, Vanessa dos Reis |
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| Jazyk: | angličtina |
| Rok vydání: | 2019 |
| Předmět: |
medicine.medical_specialty
congenital hereditary and neonatal diseases and abnormalities Glycosylation Genetics Genetics (clinical) business.industry MEDLINE Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6] Guideline Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3] medicine.disease Congenital Disorders of Glycosylation Diagnosis treatment Multidisciplinary approach Phosphotransferases (Phosphomutases) medicine Humans Presentation (obstetrics) Intensive care medicine business Clinical evaluation Phosphomannomutase Congenital disorder Follow-Up Studies |
| Zdroj: | JOURNAL OF INHERITED METABOLIC DISEASE r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu Fundació Sant Joan de Déu Journal of Inherited Metabolic Disease, 42, 5-28 r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu instname Journal of Inherited Metabolic Disease, 42, 1, pp. 5-28 |
| ISSN: | 0141-8955 |
| Popis: | Contains fulltext : 203022.pdf (Publisher’s version ) (Closed access) 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. |
| Databáze: | OpenAIRE |
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