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. [electronic resource]

By: Contributor(s): Producer: 20180703Description: 843-851 p. digitalISSN:
  • 1468-6244
Subject(s): Online resources: In: Journal of medical genetics vol. 54
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Publication Type: Case Reports; Journal Article; Review; Research Support, Non-U.S. Gov't

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