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-Reference-Cited by-同舟云学术

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

Published:2017-09-27 Issue:12 Volume:54 Page:843-851
ISSN:0022-2593
Container-title:Journal of Medical Genetics
language:en
Short-container-title:J Med Genet

Author:

Schiff Manuel^ORCID,Roda Céline,Monin Marie-Lorraine,Arion Alina,Barth Magali,Bednarek Nathalie,Bidet Maud,Bloch Catherine,Boddaert Nathalie,Borgel Delphine,Brassier Anaïs,Brice Alexis,Bruneel Arnaud,Buissonnière Roger,Chabrol Brigitte,Chevalier Marie-Chantal,Cormier-Daire Valérie,De Barace Claire,De Maistre Emmanuel,De Saint-Martin Anne,Dorison Nathalie,Drouin-Garraud Valérie,Dupré Thierry,Echenne Bernard,Edery Patrick,Feillet François,Fontan Isabelle,Francannet Christine,Labarthe François,Gitiaux Cyril,Héron Delphine,Hully Marie,Lamoureux Sylvie,Martin-Coignard Dominique,Mignot Cyril,Morin Gilles,Pascreau Tiffany,Pincemaille Olivier,Polak Michel,Roubertie Agathe,Thauvin-Robinet Christel,Toutain Annick,Viot Géraldine,Vuillaumier-Barrot Sandrine,Seta Nathalie,De Lonlay Pascale

Funder

Agence Nationale de la Recherche

ERA-Net

Publisher

BMJ

Subject

Genetics (clinical),Genetics

Reference49 articles.

1. Congenital disorders of glycosylation: a rapidly expanding disease family;Jaeken;Annu Rev Genomics Hum Genet,2007

2. Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome);Matthijs;Nat Genet,1997

3. The clinical spectrum of phosphomannomutase 2 deficiency (CDG-Ia);Grünewald;Biochim Biophys Acta,1792

4. A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases;de Lonlay;J Med Genet,2001

5. Scandinavian CDG-Ia patients: genotype/phenotype correlation and geographic origin of founder mutations;Erlandson;Hum Genet,2001

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