Molecular characterization of 6-pyruvoyl-tetrahydropterin synthase deficiency in Japanese patients

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Expression Analysis of the Aldo-Keto Reductases Involved in the Novel Biosynthetic Pathway of Tetrahydrobiopterin in Human and Mouse Tissues
A case of 6-pyruvoyl-tetrahydropterin synthase deficiency demonstrates a more significant correlation of L-Dopa dosage with serum prolactin levels than CSF homovanillic acid leyels
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Molecular characterization of 6-pyruvoyl-tetrahydropterin synthase deficiency in Japanese patients
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日本における新生児スクリーニング使用済み濾紙血の目的外使用と長期保存
Diagnosis and treatment of 6-pyruvoyl-tetrahydropterin synthase deficiency
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