Phenylketonuria
Author:
Publisher
Springer New York
Link
http://link.springer.com/content/pdf/10.1007/978-1-4419-5864-8_12.pdf
Reference26 articles.
1. Guldberg P, Rey F, Zschocke J, Romano V, Francois B, et al. A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype. Am J Hum Genet. 1998;63:71–9.
2. Folling A. Ueber Ausscheidung von Phenylbrenztraubensaeure in den Harn als Stoffwechselanomalie in Verbindung mit Imbezillitaet. Ztschr Physiol Chem. 1934;227:169–76.
3. Bickel H, Gerrard J, Hickmans EM. The influence of phenylalanine intake on the chemistry and behaviour of a phenylketonuria child. Acta Ped. 1954;43(64–77):1954.
4. Guthriem R. A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants. Ada Susi. Pediatrics. 1963;32:338–43.
5. Zeman J, Bayer M, Stepán J. Bone mineral density in patients with phenylketonuria. Acta Paediatr. 1999;88(12):1348–51.
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