Hyperphenylalaninaemia
Author:
Publisher
Springer Berlin Heidelberg
Link
https://link.springer.com/content/pdf/10.1007/978-3-662-63123-2_16
Reference100 articles.
1. Werner ER, Blau N, Thony B (2011) Tetrahydrobiopterin: biochemistry and pathophysiology. Biochem J 438(3):397–414. https://doi.org/10.1042/BJ20110293
2. Blau N, van Spronsen FJ (2014) Disorders of phenylalanine and tetrahydrobiopterin metabolism. In: Blau N, Duran M, Gibson KM, Dionisi-Vici C (eds) Physician’s guide to the diagnosis, treatment, and follow-up of inherited metabolic diseases. Springer, pp 3–21
3. Blau N, Martinez A, Hoffmann GF, Thöny B (2018) DNAJC12 deficiency: a new strategy in the diagnosis of hyperphenylalaninemias. Mol Genet Metab 123(1):1–5. https://doi.org/10.1016/j.ymgme.2017.11.005
4. Lenke RR, Levy HL (1980) Maternal phenylketonuria and hyperphenylalaninemia. An international survey of the outcome of untreated and treated pregnancies. N Engl J Med 303(21):1202–1208. https://doi.org/10.1056/nejm198011203032104
5. Rupp A, Kreis R, Zschocke J, Slotboom J, Boesch C, Rating D et al (2001) Variability of blood-brain ratios of phenylalanine in typical patients with phenylketonuria. J Cereb Blood Flow Metab 21(3):276–284. https://doi.org/10.1097/00004647-200103000-00011
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