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Diagnosis, treatment and follow-up of patients with tetrahydrobiopterin deficiency in Shandong province, China.

Brain & development - 1 Jun 2015

Han Bingjuan, Zou Hui, Han Bingchao, Zhu Weiwei, Cao Zhiyang, Liu Yingxia

Abstract excerpt

OBJECTIVES: To summarize the clinical and biochemical data, mutation analysis, treatment, outcome and the follow-up data of patients with BH4 deficiency from 2004 to 2012 in Shandong province, China. METHODS: We analyzed the clinical, biochemical and treatment data of 40 patients with BH4 deficiency. Urinary neopterin and biopterin were analyzed. Further BH4 loading tests were performed in suspected patients with...

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PMID: 25304915
DOI: 10.1016/j.braindev.2014.09.008

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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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