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. (Q47735020)
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scientific article published on 27 September 2017
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English | 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. |
scientific article published on 27 September 2017 |
Statements
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 (English)
Delphine Héron
Patrick Edery
Christel Thauvin-Robinet
Agathe Roubertie
Marie-Lorraine Monin
Alina Arion
Magali Barth
Nathalie Bednarek
Maud Bidet
Catherine Bloch
Nathalie Boddaert
Anaïs Brassier
Alexis Brice
Roger Buissonnière
Brigitte Chabrol
Marie-Chantal Chevalier
Valérie Cormier-Daire
Claire De Barace
Emmanuel De Maistre
Anne De Saint-Martin
Nathalie Dorison
Valérie Drouin-Garraud
Thierry Dupré
François Feillet
Isabelle Fontan
Christine Francannet
François Labarthe
Cyril Gitiaux
Marie Hully
Sylvie Lamoureux
Dominique Martin-Coignard
Cyril Mignot
Gilles Morin
Tiffany Pascreau
Olivier Pincemaille
Michel Polak
Géraldine Viot
Sandrine Vuillaumier-Barrot
Pascale De Lonlay
27 September 2017