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Article

Clinical, biochemical and molecular spectrum of mild 6-pyruvoyl-tetrahydropterin synthase deficiency and a case report.

Fetal and pediatric pathology - 1 Dec 2021

Song Boyan, Ma Zhijun, Liu Wei, Lu Lihong, Jian Yongjian, Yu Lu, Wan Zhihui, Yue Xiaofei, Kong Yuanyuan

Abstract excerpt

Background 6-Pyruvoyl-tetrahydropterin synthase (PTS) is the key enzyme in BH4 synthesis. PTS deficiency is classified as severe type and mild type, and the prognosis and treatment differ for these types. Distinguishing between two types in the early stage is difficult. Reference to reported cases is needed for interpretation of the correlation between genotype and prognosis. Case report: We report a full-term...

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PMID: 32202960
DOI: 10.1080/15513815.2020.1737992

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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