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Article

The Predictive Value of Genetic Analyses in the Diagnosis of Tetrahydrobiopterin (BH4)-Responsiveness in Chinese Phenylalanine Hydroxylase Deficiency Patients.

Scientific reports - 28 Jul 2017

Zhu Tianwen, Ye Jun, Han Lianshu, Qiu Wenjuan, Zhang Huiwen, Liang Lili, Gu Xuefan

Abstract excerpt

Molecular characterization of PAH deficiency has been proven essential in establishing treatment options. We examine the diagnostic accuracy of two genetic assays to predict BH4 responsiveness: to determine whether the AV sum test or mutation-status assessment test can obviate the need for BH4 loading in Chinese patients. The overall predicted response in 346 patients was 31.65% by the AV sum test and 25.43% by...

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Source

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Identifiers

PMID: 28754886
DOI: 10.1038/s41598-017-06462-y
PMCID: PMC5533732

Genes

PAH

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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