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1987 | 1 |
2006 | 1 |
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"Peripheral" tetrahydrobiopterin deficiency with hyperphenylalaninaemia due to incomplete 6-pyruvoyl tetrahydropterin synthase deficiency or heterozygosity.
Eur J Pediatr. 1987 May;146(3):228-32. doi: 10.1007/BF00716465.
Eur J Pediatr. 1987.
PMID: 3297709
Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase.
Thöny B, Blau N.
Thöny B, et al.
Hum Mutat. 2006 Sep;27(9):870-8. doi: 10.1002/humu.20366.
Hum Mutat. 2006.
PMID: 16917893
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Mutation spectrum of and founder effects affecting the PTS gene in East Asian populations.
Chiu YH, Chang YC, Chang YH, Niu DM, Yang YL, Ye J, Jiang J, Okano Y, Lee DH, Pangkanon S, Kuptanon C, Hock NL, Chiong MA, Cavan BV, Hsiao KJ, Liu TT.
Chiu YH, et al.
J Hum Genet. 2012 Feb;57(2):145-52. doi: 10.1038/jhg.2011.146. Epub 2012 Jan 12.
J Hum Genet. 2012.
PMID: 22237589
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Mutation spectrum of hyperphenylalaninemia candidate genes and the genotype-phenotype correlation in the Chinese population.
Wang R, Shen N, Ye J, Han L, Qiu W, Zhang H, Liang L, Sun Y, Fan Y, Wang L, Wang Y, Gong Z, Liu H, Wang J, Yan H, Blau N, Gu X, Yu Y.
Wang R, et al.
Clin Chim Acta. 2018 Jun;481:132-138. doi: 10.1016/j.cca.2018.02.035. Epub 2018 Feb 28.
Clin Chim Acta. 2018.
PMID: 29499199
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