Title : Report of two never treated adult sisters with aromatic L-amino Acid decarboxylase deficiency: a portrait of the natural history of the disease or an expanding phenotype?

Pub. Date : 2015

PMID : 24788355






1 Functional Relationships(s)
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1 The increase of both 3-O-methyldopa and 5-hydroxytryptophan on CSF was the most relevant biochemical alteration denoting AADC defect in these subjects. 5-Hydroxytryptophan dopa decarboxylase Homo sapiens