Title : Cerebellar ataxia with elevated cerebrospinal free sialic acid (CAFSA).

Pub. Date : 2009 Mar

PMID : 19153153






1 Functional Relationships(s)
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1 Two-dimensional gel analyses revealed significant hyposialylation of transferrin in CSF of all patients compared to age-matched controls (P < 0.001)--a finding not present in the CSF of patients with Salla disease, the most common free sialic acid storage disorder. N-Acetylneuraminic Acid transferrin Homo sapiens