Long-term follow-up in PMM2-CDG: are we ready to start treatment trials?-Reference-Cited by-同舟云学术

Long-term follow-up in PMM2-CDG: are we ready to start treatment trials?

Published:2019-05 Issue:5 Volume:21 Page:1181-1188
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Witters Peter,Honzik Tomas,Bauchart Eric,Altassan Ruqaiah,Pascreau Tiffany,Bruneel Arnaud,Vuillaumier Sandrine,Seta Nathalie,Borgel Delphine,Matthijs Gert,Jaeken Jaak,Meersseman Wouter,Cassiman David,Pascale de Lonlay,Morava Eva

Publisher

Elsevier BV

Subject

Genetics (clinical)

Link

http://www.nature.com/articles/s41436-018-0301-4.pdf

Reference21 articles.

1. Schiff M, Roda C, Monin ML, 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. J Med Genet. 2017; 54:843-851.

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