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.
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| Description | scientific article published on 27 September 2017 |
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author: Bernard Echenne Delphine Borgel Patrick Edery Manuel Schiff Delphine Héron Nathalie Seta Agathe Roubertie Annick Toutain Arnaud Bruneel Célina Roda Christel Thauvin-Robinet |
| Publication date | September 27, 2017 |
| Language | English |
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