Tetrahydrobiopterin deficiencies without hyperphenylalaninemia: diagnosis and genetics of dopa-responsive dystonia and sepiapterin reductase deficiency.
published in: Molecular Genetics and Metabolism
date of publication: 2001-09-01
main subject: sepiapterin reductase deficiency, hyperphenylalaninemia, sapropterin
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Article - wd:Q34396185