Blood phenylalanine concentrations in patients with PAH-deficient hyperphenylalaninaemia off diet without and with three different single oral doses of tetrahydrobiopterin: Assessing responsiveness in a model of statistical process control-Reference-Cited by-同舟云学术

Blood phenylalanine concentrations in patients with PAH-deficient hyperphenylalaninaemia off diet without and with three different single oral doses of tetrahydrobiopterin: Assessing responsiveness in a model of statistical process control

Published:2009-06-10 Issue:4 Volume:32 Page:514-522
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Lindner M.,Gramer G.,Garbade S. F.,Burgard P.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://www.springerlink.com/index/pdf/10.1007/s10545-009-1070-7

Reference36 articles.

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2. Blau N, Erlandsen H (2004) The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. Mol Genet Metab 82: 101–111. doi: 10.1016/j.ymgme.2004.03.006

3. Burgard P, Bremer HJ, Bührdel P, et al (1999) Rationale for the German recommendations for phenylalanine level control in phenylketonuria 1997. Eur J Pediatr 158: 46–54. doi: 10.1007/s004310051008

4. Danks DM, Cotton RGH, Schlesinger P (1976) Variant forms of phenylketonuria. The Lancet 307(7971): 1236–1237. doi: 10.1016/S0140-6736(76)92179-6

5. Desviat LR, Perez B, Belanger-Quintana A, et al (2004) Tetrahydrobiopterin responsiveness: results of the BH4 loading in 31 Spanish PKU patients and correlation with their genotype. Mol Genet Metab 83: 157–162. doi: 10.1016/j.ymgme.2004.06.007

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