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Aromatic L-Amino Acid Decarboxylase Deficiency
Neurol 62:1058-1065, Pons,R.,et al, 2004
See this aricle in Pubmed
Article Abstract
The molecular and clinical spectrum of AADC deficiency is heterogeneous. Two groups, one with predominant male sex and favorable response to treatment, and the other with predominant female sex and poor response to treatment, can be discerned.
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aromatic amino acid decarboxylase deficiency
autonomic dysfunction
developmental retardation
enzyme,defect
hypotonia
inborn errors of metabolism
molecular genetics
oculogyric crisis
prognosis
review article
treatment of neurologic disorder
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