Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature.

doi:10.1136/jmedgenet-2017-104903

Article

Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature.

Journal of medical genetics - 1 Dec 2017

Schiff Manuel, Roda Céline, Monin Marie-Lorraine, Arion Alina, Barth Magali, Bednarek Nathalie, Bidet Maud, Bloch Catherine, Boddaert Nathalie, Borgel Delphine, Brassier Anaïs, Brice Alexis, Bruneel Arnaud, Buissonnière Roger, Chabrol Brigitte, Chevalier Marie-Chantal, Cormier-Daire Valérie, De Barace Claire, De Maistre Emmanuel, De Saint-Martin Anne, Dorison Nathalie, Drouin-Garraud Valérie, Dupré Thierry, Echenne Bernard, Edery Patrick, Feillet François, Fontan Isabelle, Francannet Christine, Labarthe François, Gitiaux Cyril, Héron Delphine, Hully Marie, Lamoureux Sylvie, Martin-Coignard Dominique, Mignot Cyril, Morin Gilles, Pascreau Tiffany, Pincemaille Olivier, Polak Michel, Roubertie Agathe, Thauvin-Robinet Christel, Toutain Annick, Viot Géraldine, Vuillaumier-Barrot Sandrine, Seta Nathalie, De Lonlay Pascale

Abstract excerpt

BACKGROUND: Phosphomannomutase 2-congenital disorder of glycosylation (PMM2-CDG) is a multisystem inborn error of metabolism. OBJECTIVES: To better characterise the natural history of PMM2-CDG. METHODS: Medical charts of 96 patients with PMM2-CDG (86 families, 41 males, 55 females) were retrospectively reviewed. Data on clinical, laboratory and molecular parameters at diagnosis were analysed. Follow-up data at...

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Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature.

Abstract excerpt

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