29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pe...
29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype
About this item
Full title
Author / Creator
Monin, Marie-Lorraine , Mignot, Cyril , De Lonlay, Pascale , Héron, Bénédicte , Masurel, Alice , Mathieu-Dramard, Michèle , Lenaerts, Catherine , Thauvin, Christel , Gérard, Marion , Roze, Emmanuel , Jacquette, Aurélia , Charles, Perrine , de Baracé, Claire , Drouin-Garraud, Valérie , Khau Van Kien, Philippe , Cormier-Daire, Valérie , Mayer, Michèle , Ogier, Hélène , Brice, Alexis , Seta, Nathalie and Héron, Delphine
Publisher
England: BioMed Central Ltd
Journal title
Language
English
Formats
Publication information
Publisher
England: BioMed Central Ltd
Subjects
More information
Scope and Contents
Contents
PMM2-CDG (formerly known as CDG Ia) a deficiency in phosphomannomutase, is the most frequent congenital disorder of glycosylation. The phenotype encompasses a wide range of neurological and non-neurological manifestations comprising cerebellar atrophy and intellectual deficiency. The phenotype of the disorder is well characterized in children but t...
Alternative Titles
Full title
29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype
Authors, Artists and Contributors
Author / Creator
Mignot, Cyril
De Lonlay, Pascale
Héron, Bénédicte
Masurel, Alice
Mathieu-Dramard, Michèle
Lenaerts, Catherine
Thauvin, Christel
Gérard, Marion
Roze, Emmanuel
Jacquette, Aurélia
Charles, Perrine
de Baracé, Claire
Drouin-Garraud, Valérie
Khau Van Kien, Philippe
Cormier-Daire, Valérie
Mayer, Michèle
Ogier, Hélène
Brice, Alexis
Seta, Nathalie
Héron, Delphine
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4266234
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4266234
Other Identifiers
ISSN
1750-1172
E-ISSN
1750-1172
DOI
10.1186/s13023-014-0207-4
