ArticleJournal of clinical laboratory analysis2019
Gene mutation and pedigree analysis of tetrahydrobiopterin deficiency in a Uygur family of China.
Article in Journal of clinical laboratory analysis, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
4 citing papers in PubMed, 5 citations in OpenAlex.
- Newborn screening for inherited metabolic disorders in central China: a retrospective study of 153,956 infants using non-derivatized tandem mass spectrometry.Scientific reports · 2025Article
- Fast Label-Free Metabolic Profile Recognition Identifies Phenylketonuria and Subtypes.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2024Article
- Mutation spectrum ofFrontiers in genetics · 2022Article
- Gene mutation and pedigree analysis of tetrahydrobiopterin deficiency in a Uygur family of China.Journal of clinical laboratory analysis · 2019Article
Corrections and comments
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
Abstract
backgroundTetrahydrobiopterin (BH
methods(a) This patient received tandem mass spectrometry, urinary neopterin and biopterin analysis, and determination of dihydropteridine reductase (DHPR) activity in dried blood spots. (b) Blood DNA samples of this patient and her three family members were collected for gene sequencing and mutation analysis.
results(a) The basic urinary neopterin and biopterin were 1.07 mmol/mol Cr and 3.12 mmol/mol Cr, respectively, and biopterin percentage was 74.42%. The DHPR activity of this patient was 31.11% of normal control. (b) Sanger sequencing of PAH gene in this patient was negative but positive of her sister, which carries 2 heterozygous mutation c.781C>T and c.1238G>C. Next-generation sequencing on the patient identified a homozygous mutation in the quinoid dihydropteridine reductase (QDPR) gene at c.508G>A, which was confirmed by Sanger sequencing.
conclusion(a) The patient was the first case of clinical diagnosis of BH
Indexed as
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Registered trials
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