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PDFBiochemical genetics
Original 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
- Correspondence to Professor Pascale De Lonlay, Reference Center for Inherited Metabolic Diseases, Université Paris Descartes, Hôpital Necker-Enfants Malades, Imagine Institute, Paris, 75015, France; pascale.delonlay{at}aphp.fr
Citation
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
Publication history
- Received July 1, 2017
- Revised August 22, 2017
- Accepted August 31, 2017
- First published September 27, 2017.
Online issue publication
November 23, 2017
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- Previous version (23 November 2017).
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© Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.