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Items: 9

1.

Tetrahydrobiopterin responsiveness in phenylketonuria. Two new cases and a review of molecular genetic findings.

Lässker U, Zschocke J, Blau N, Santer R.

J Inherit Metab Dis. 2002 Feb;25(1):65-70. Review.

PMID:
11999982
2.

Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency, state of the art.

Spaapen LJ, Rubio-Gozalbo ME.

Mol Genet Metab. 2003 Feb;78(2):93-9. Review.

PMID:
12618080
3.

The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.

Blau N, Erlandsen H.

Mol Genet Metab. 2004 Jun;82(2):101-11. Review.

PMID:
15171997
4.
5.

Tetrahydrobiopterin, its mode of action on phenylalanine hydroxylase, and importance of genotypes for pharmacological therapy of phenylketonuria.

Heintz C, Cotton RG, Blau N.

Hum Mutat. 2013 Jul;34(7):927-36. doi: 10.1002/humu.22320. Epub 2013 May 1. Review.

PMID:
23559577
6.

Structural studies on phenylalanine hydroxylase and implications toward understanding and treating phenylketonuria.

Erlandsen H, Patch MG, Gamez A, Straub M, Stevens RC.

Pediatrics. 2003 Dec;112(6 Pt 2):1557-65. Review.

PMID:
14654665
7.

Diagnosis, classification, and genetics of phenylketonuria and tetrahydrobiopterin (BH4) deficiencies.

Blau N, Hennermann JB, Langenbeck U, Lichter-Konecki U.

Mol Genet Metab. 2011;104 Suppl:S2-9. doi: 10.1016/j.ymgme.2011.08.017. Epub 2011 Aug 26. Review.

8.

Kinetic and stability analysis of PKU mutations identified in BH4-responsive patients.

Pérez B, Desviat LR, Gómez-Puertas P, Martínez A, Stevens RC, Ugarte M.

Mol Genet Metab. 2005 Dec;86 Suppl 1:S11-6. Epub 2005 Aug 8. Review.

PMID:
16091306
9.

Phenylketonuria: A new look at an old topic, advances in laboratory diagnosis, and therapeutic strategies.

Sumaily KM, Mujamammi AH.

Int J Health Sci (Qassim). 2017 Nov-Dec;11(5):63-70. Review.

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