Article
Unusually mild phenotype of AADC deficiency in 2 siblings.
Molecular genetics and metabolism - 1 Aug 2007
Tay S K H, Poh K S, Hyland K, Pang Y W, Ong H T, Low P S, Goh D L M
Abstract excerpt
Aromatic L-amino acid decarboxylase deficiency is a rare neurotransmitter defect leading to serotonin, dopamine and norepinephrine deficiency. Affected individuals usually present in infancy with severe developmental delay, oculogyric crises and extrapyramidal movements. We present the clinical,...
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