Phenylketonuria
Author:
Publisher
Springer Science and Business Media LLC
Subject
General Medicine
Link
http://www.nature.com/articles/s41572-021-00267-0.pdf
Reference245 articles.
1. Anikster, Y. et al. Biallelic mutations in DNAJC12 cause hyperphenylalaninemia, dystonia, and intellectual disability. Am. J. Hum. Genet. 100, 257–266 (2017).
2. Blau, N. Sapropterin dihydrochloride for the treatment of hyperphenylalaninemias. Expert. Opin. Drug. Metab. Toxicol. 9, 1207–1218 (2013).
3. Dhondt, J.-L. Lessons from 30 years of selective screening for tetrahydrobiopterin deficiency. J. Inherit. Metab. Dis. 33, S219–S223 (2010).
4. Straniero, L. et al. DNAJC12 and dopa-responsive nonprogressive parkinsonism. Ann. Neurol. 82, 640–646 (2017).
5. Blau, N., van Spronsen, F. J. & Levy, H. L. Phenylketonuria. Lancet 376, 1417–1427 (2010).
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