e-Article
Mutations in the Sepiapterin Reductase Gene Cause a Novel Tetrahydrobiopterin-Dependent Monoamine-Neurotransmitter Deficiency without Hyperphenylalaninemia.
Document Type
Article
Source
Subject
*PSYCHOMOTOR disorders
*INTELLECTUAL disabilities
*DYSTONIA
*CEREBROSPINAL fluid
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Language
ISSN
0002-9297
Abstract
Presents a study which reported patients with psychomotor retardation, dystonia, dopamine and serotonin deficiencies and abnormal pterin pattern in cerebrospinal fluid. Methods; Results; Discussion.