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Collection : Universite Grenoble Alpes

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Academic Journal

29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype

Authors : Monin, Marie-Lorraine; Mignot, Cyril; de Lonlay, Pascale ...

Subjects: Phosphomannomutase; Cerebellar ataxia; Congenital disorder of glycosylation

Source: ISSN: 1750-1172 ; Orphanet Journal of Rare Diseases ; https://hal.sorbonne-universite.fr/hal-01112338 ; Orphanet Journal of Rare Diseases, 2014, 9 (1), pp.207. ⟨10.1186/s13023-014-0207-4⟩.

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