Title : Dopamine-Responsive Growth-Hormone Deficiency and Central Hypothyroidism in Sepiapterin Reductase Deficiency.

Pub. Date : 2015

PMID : 26006722






1 Functional Relationships(s)
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1 Due to discrepancy between motor status and mental condition, analyses of biogenic amines and pterins in CSF were performed, leading to the diagnosis of SR deficiency. Pterins sepiapterin reductase Homo sapiens