Disorders of Tetrahydrobiopterin Metabolism: Experience from South India
Author:
Publisher
Springer Science and Business Media LLC
Subject
Cellular and Molecular Neuroscience,Neurology (clinical),Biochemistry
Link
https://link.springer.com/content/pdf/10.1007/s11011-021-00889-z.pdf
Reference33 articles.
1. Blau N, Barnes I, Dhondt JL (1996a) International database of tetrahydrobiopterin deficiencies. J Inherit Metab Dis. 19(1):8–14. https://doi.org/10.1007/BF01799342
2. Blau N, Barnes I, Dhondt JL (1996b) International database of tetrahydrobiopterin deficiencies. J Inherit Metab Dis. 19(1):8–14. https://doi.org/10.1007/BF01799342
3. Blau N, Hennermann JB, Langenbeck U, Lichter-Konecki U (2011) Diagnosis, classification, and genetics of phenylketonuria and tetrahydrobiopterin (BH4) deficiencies. Mol Genet Metab. 104(Suppl):S2–S9. https://doi.org/10.1016/j.ymgme.2011.08.017 Epub 2011 Aug 26
4. Chien YH, Chiang SC, Huang A, Lin JM, Chiu YN, Chou SP, Chu SY, Wang TR, Hwu WL (2001) Treatment and outcome of Taiwanese patients with 6-pyruvoyltetrahydropterin synthase gene mutations. J Inherit Metab Dis. 24(8):815–823. https://doi.org/10.1023/a:1013984022994
5. Coughlin CR 2nd, Hyland K, Randall R, Ficicioglu C. Dihydropteridine reductase deficiency and treatment with tetrahydrobiopterin: a case report. JIMD Rep. 2013;10:53-6. doi: 10.1007/8904_2012_202. Epub 2012 Dec 29. PMID: 23430801; PMCID: PMC3755580.
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1. Mutation spectrum of PTS gene in patients with tetrahydrobiopterin deficiency from jiangxi province;Frontiers in Genetics;2022-12-13
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