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[PTPS gene analysis and prenatal diagnosis in patients with 6-pyruvoyl-tetra hydropterin synthase deficiency].

Zhonghua fu chan ke za zhi - 25 Dec 2016

Liu N, Zhao D H, Li X L, Cui L X, Wu Q H, Jiang M, Kong X D

Abstract excerpt

Objective: To analyze the variations of PTPS gene in patients with suspected 6-pyruvoyl-tetra hydropterin synthase deficiency (PTPSD) and to make prenatal diagnosis in high-risk families. Methods: Chemiluminescence was used for phenylalanine detection in blood or dried blood spots.Patients with phenylalanine concentration over 120 μmol/L were detected by urine pterin analysis, and the activity of dihydropteridine...

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PMID: 28057123
DOI: 10.3760/cma.j.issn.0529-567X.2016.12.003

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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