Article
29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype.
Orphanet journal of rare diseases - 11 Dec 2014
Monin Marie-Lorraine, Mignot Cyril, De Lonlay Pascale, Héron Bénédicte, Masurel Alice, Mathieu-Dramard Michèle, Lenaerts Catherine, Thauvin Christel, Gérard Marion, Roze Emmanuel, Jacquette Aurélia, Charles Perrine, de Baracé Claire, Drouin-Garraud Valérie, Khau Van Kien Philippe, Cormier-Daire Valérie, Mayer Michèle, Ogier Hélène, Brice Alexis, Seta Nathalie, Héron Delphine
Abstract excerpt
PMM2-CDG (formerly known as CDG Ia) a deficiency in phosphomannomutase, is the most frequent congenital disorder of glycosylation. The phenotype encompasses a wide range of neurological and non-neurological manifestations comprising cerebellar atrophy and intellectual deficiency. The phenotype of the disorder is well characterized in children but the long term course of the disease is unknown and the phenotype of...
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