A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG)

A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG)

Abstract Background We aim to delineate the progression of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG) using the International Cooperative Ataxia Rating Scale (ICARS). We sought correlation between cerebellar volumetry and clinical situation. We prospectively evalua...

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Bibliographic Details
Main Authors: Natalia Lourdes Serrano, Victor De Diego, Daniel Cuadras, Antonio F. Martinez Monseny, Ramón Velázquez-Fragua, Laura López, Ana Felipe, Luis G. Gutiérrez-Solana, Alfons Macaya, Belén Pérez-Dueñas, Mercedes Serrano, CDG Spanish-Consortium
Format: Article
Language:English
Published: BMC 2017-09-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Cerebellum
Congenital disorders of glycosylation
Developmental disorders
Gait disorders/ataxia
ICARS
MRI
Online Access:http://link.springer.com/article/10.1186/s13023-017-0707-0

Internet

http://link.springer.com/article/10.1186/s13023-017-0707-0

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