Published in
BMJ Publishing Group, Journal of Medical Genetics, 12(54), p. 843-851, 2017
DOI: 10.1136/jmedgenet-2017-104903
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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
Journal article published in 2017 by
Manuel Schiff 
,
Céline Roda,
Marie-Lorraine Monin,
Alina Arion,
Magali Barth,
Nathalie Bednarek,
Maud Bidet,
Catherine Bloch,
Nathalie Boddaert,
Delphine Borgel,
Anaïs Brassier,
Alexis Brice,
Arnaud Bruneel ,
Roger Buissonnière,
Brigitte Chabrol
and other authors.
,
Céline Roda,
Marie-Lorraine Monin,
Alina Arion,
Magali Barth,
Nathalie Bednarek,
Maud Bidet,
Catherine Bloch,
Nathalie Boddaert,
Delphine Borgel,
Anaïs Brassier,
Alexis Brice,
Arnaud Bruneel ,
Roger Buissonnière,
Brigitte Chabrol
and other authors.
This paper was not found in any repository, but could be made available legally by the author.
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