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6 p, 432.3 KB A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG) / Serrano, Natalia Lourdes (Hospital Garrahan) ; De Diego, Victor (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Cuadras, Daniel (Fundació Sant Joan de Déu) ; Martinez Monseny, Antonio F. (Hospital Sant Joan de Déu (Manresa)) ; Velázquez-Fragua, Ramón (Hospital Universitario La Paz (Madrid)) ; López, Laura (Hospital Infantil Universitario Niño Jesús (Madrid)) ; Felipe-Rucián, Ana (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; González Gutiérrez-Solana, Luis (Hospital Infantil Universitario Niño Jesús (Madrid)) ; Macaya Ruiz, Alfons (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Pérez-Dueñas, Belén (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Serrano, Mercedes (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ; Universitat Autònoma de Barcelona
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. [...]
2017 - 10.1186/s13023-017-0707-0
Orphanet Journal of Rare Diseases, Vol. 12 (september 2017)  
Detailed record - Creative Commons

See also: similar author names
1 Serrano, N.
1 Serrano, Noelia
1 Serrano, Noemí
1 Serrano, Nuria
1 Serrano, Núria
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