Article
ALS patients with mutations in the SOD1 gene have an unique metabolomic profile in the cerebrospinal fluid compared with ALS patients without mutations.
Molecular genetics and metabolism - 1 Mar 2012
Wuolikainen Anna, Andersen Peter M, Moritz Thomas, Marklund Stefan L, Antti Henrik
Abstract excerpt
A specific biochemical marker for early diagnosing and for monitoring disease progression in amyotrophic lateral sclerosis (ALS) will have important clinical applications. ALS is a heterogeneous syndrome with multiple subtypes with ill-defined borders. A minority of patients carries mutations in the Cu/Zn-superoxide dismutase (SOD1) gene but the disease mechanism remains unknown for all types of ALS. Using a...
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