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

Title
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
Keywords
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Journal
JOURNAL OF MEDICAL GENETICS
Volume 54, Issue 12, Pages 843-851
Publisher
BMJ
Online
2017-09-28
DOI
10.1136/jmedgenet-2017-104903

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