A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutas...
A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG)
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Publisher
England: BioMed Central Ltd
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Language
English
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Publisher
England: BioMed Central Ltd
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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 evaluated PMM2-CDG patients aged from 5 to 18 years through ICARS at two dif...
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A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG)
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TN_cdi_doaj_primary_oai_doaj_org_article_4c9c403fb4bb417a95c034a61cf6a37c
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_4c9c403fb4bb417a95c034a61cf6a37c
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ISSN
1750-1172
E-ISSN
1750-1172
DOI
10.1186/s13023-017-0707-0
