Hyperphenylalaninemia, BH4 Deficient (HPABH4)
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Publisher
Springer International Publishing
Link
https://link.springer.com/content/pdf/10.1007/978-3-319-66816-1_1759-1
Reference11 articles.
1. Burgard P, Lachmann RH, Walter J (2016) Hyperphenylalaninaemia. In: Saudubray JM, Baumgartner MR, Walter J (eds) Inborn metabolic diseases: diagnosis and treatment. Springer, pp 251–263. https://doi.org/10.1007/978-3-662-49771-5_16
2. Danks DM, Bartholomé K, Clayton BE, Curtius H, Gröbe H, Kaufman S, Leeming R, Pfleiderer W, Rembold H, Rey F (1978) Malignant hyperphenylalaninaemia—current status (June 1977). J Inherit Metab Dis 1(2):49–53. https://doi.org/10.1007/BF01801843
3. Dhondt JL (1984) Tetrahydrobiopterin deficiencies: preliminary analysis from an international survey. J Pediatr 104(4):501–508. https://doi.org/10.1016/S0022-3476(84)80537-5
4. Kaufman S (1963) The structure of phenylalanine-hydroxylation cofactor. Proc Natl Acad Sci U S A 50(6):1085–1093. https://doi.org/10.1073/pnas.50.6.1085
5. Longhi R, Valsasina R, Buttè C, Paccanelli S, Riva E, Giovannini M (1985) Cranial computerized tomography in dihydropteridine reductase deficiency. J Inherit Metab Dis 8(3):109–112. https://doi.org/10.1007/BF01819291
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