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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

Authors

  1. 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
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Citation

Schiff M, Roda C, Monin M, et al
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.

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