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Cerebrospinal fluid synaptic proteins as useful biomarkers in tyrosine hydroxyl...

Ortez, C.; Duarte, Ana Sofia; Ormazábal, A.; Serrano, M.; Pérez, A.; Pons, R.; Pineda, M.; Yapici, Z.; Fernández-Álvarez, E.; Domingo-Jiménez, R.

Tyrosine hydroxylase (TH) deficiency is an inborn error of dopamine biosynthesis and a cause of early parkinsonism. Two clinical phenotypes have been described. Type "B": early onset severe encephalopathy; type "A": later onset, less severe and better response to L-dopa. We aimed to study the expression of several key dopaminergic and gabaergic synaptic proteins in the cerebrospinal fluid (CSF) of a series of p...


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