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Article

Demographics, diagnosis and treatment of 256 patients with tetrahydrobiopterin deficiency in mainland China: results of a retrospective, multicentre study.

Journal of inherited metabolic disease - 1 Sept 2013

Ye Jun, Yang Yanling, Yu Weimin, Zou Hui, Jiang Jianhui, Yang Rulai, Shang Sunny, Gu Xuefan

Abstract excerpt

BACKGROUND: National coverage of neonatal screening for hyperphenylalaninaemia (HPA) in China is still low and tests to differentiate causes of HPA are not performed in many centres. This study aimed to describe the demographics, geographic distribution, diagnosis, treatment and clinical outcomes of treatment, including intellectual development, in patients with tetrahydrobiopterin (BH4) deficiency in mainland...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23138986
DOI: 10.1007/s10545-012-9550-6

Genes

PTS
QDPR

Provenance

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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