Sepiapterin reductase deficiency: a novel tetrahydrobiopterin-dependent monoamine neurotransmitter deficiency without hyperphenylalaninemia

Authors :: Blau, N.
Bonafe, L.
Penzien, J.M.
Czarnecki, B.
Friedman, J.
Maccollin, M.
Thony, B.
Source :: American Journal of Human Genetics. Oct, 2001, Vol. 69 Issue 4, 217
Publication Year :: 2001

Subjects :: Psychomotor disorders -- Physiological aspects
Neurotransmitters -- Physiological aspects
Dystonia -- Physiological aspects
Dopamine -- Physiological aspects
Serotonin -- Physiological aspects
Biological sciences

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