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Items: 1 to 20 of 252

1.

Phenylketonuria.

Blau N, van Spronsen FJ, Levy HL.

Lancet. 2010 Oct 23;376(9750):1417-27. doi: 10.1016/S0140-6736(10)60961-0. Review.

PMID:
20971365
2.

Studies on phenylpyruvic oligophrenia; the position of the metabolic error.

JERVIS GA.

J Biol Chem. 1947 Aug;169(3):651-6. No abstract available.

PMID:
20259098
3.

Psychosocial aspects of PKU: hidden disabilities--a review.

Gentile JK, Ten Hoedt AE, Bosch AM.

Mol Genet Metab. 2010;99 Suppl 1:S64-7. doi: 10.1016/j.ymgme.2009.10.183. Review.

PMID:
20123473
4.

Psychiatric symptoms and disorders in phenylketonuria.

Brumm VL, Bilder D, Waisbren SE.

Mol Genet Metab. 2010;99 Suppl 1:S59-63. doi: 10.1016/j.ymgme.2009.10.182.

PMID:
20123472
5.

Loss of function in phenylketonuria is caused by impaired molecular motions and conformational instability.

Gersting SW, Kemter KF, Staudigl M, Messing DD, Danecka MK, Lagler FB, Sommerhoff CP, Roscher AA, Muntau AC.

Am J Hum Genet. 2008 Jul;83(1):5-17. doi: 10.1016/j.ajhg.2008.05.013. Epub 2008 Jun 5.

6.

Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.

Zurflüh MR, Zschocke J, Lindner M, Feillet F, Chery C, Burlina A, Stevens RC, Thöny B, Blau N.

Hum Mutat. 2008 Jan;29(1):167-75.

PMID:
17935162
7.
8.

Phenylalanine hydroxylase deficiency exhibits mutation heterogeneity in two large old order Amish settlements.

Wang H, Nye L, Puffenberger E, Morton H.

Am J Med Genet A. 2007 Aug 15;143A(16):1938-40. No abstract available.

PMID:
17630668
9.

The PAH gene, phenylketonuria, and a paradigm shift.

Scriver CR.

Hum Mutat. 2007 Sep;28(9):831-45. Review.

PMID:
17443661
10.

Molecular and phenotypic characteristics of patients with phenylketonuria in Serbia and Montenegro.

Stojiljkovic M, Jovanovic J, Djordjevic M, Grkovic S, Cvorkov Drazic M, Petrucev B, Tosic N, Karan Djurasevic T, Stojanov L, Pavlovic S.

Clin Genet. 2006 Aug;70(2):151-5.

PMID:
16879198
11.

Mechanisms underlying responsiveness to tetrahydrobiopterin in mild phenylketonuria mutations.

Pey AL, Pérez B, Desviat LR, Martínez MA, Aguado C, Erlandsen H, Gámez A, Stevens RC, Thórólfsson M, Ugarte M, Martínez A.

Hum Mutat. 2004 Nov;24(5):388-99.

PMID:
15459954
12.

Efficiency of long-term tetrahydrobiopterin monotherapy in phenylketonuria.

Steinfeld R, Kohlschütter A, Ullrich K, Lukacs Z.

J Inherit Metab Dis. 2004;27(4):449-53.

PMID:
15303001
13.

Biopterin responsive phenylalanine hydroxylase deficiency.

Matalon R, Koch R, Michals-Matalon K, Moseley K, Surendran S, Tyring S, Erlandsen H, Gamez A, Stevens RC, Romstad A, Møller LB, Guttler F.

Genet Med. 2004 Jan-Feb;6(1):27-32.

PMID:
14726806
14.

A SIMPLE PHENYLALANINE METHOD FOR DETECTING PHENYLKETONURIA IN LARGE POPULATIONS OF NEWBORN INFANTS.

GUTHRIE R, SUSI A.

Pediatrics. 1963 Sep;32:338-43. No abstract available.

PMID:
14063511
15.

The birthplaces of parents and grandparents of a series of patients with phenylketonuria in in south-east England.

CARTER CO, WOOLF LI.

Ann Hum Genet. 1961 May;25:57-64. No abstract available.

PMID:
13691132
16.

The variability in manifestations of untreated patients with phenylketonuria (phenylpyruvic aciduria).

PAINE RS.

Pediatrics. 1957 Aug;20(2):290-302. No abstract available.

PMID:
13452670
17.

The influence of phenylalanine intake on the chemistry and behaviour of a phenyl-ketonuric child.

BICKEL H, GERRARD J, HICKMANS EM.

Acta Paediatr. 1954 Jan;43(1):64-77. No abstract available.

PMID:
13138177
18.

Influence of phenylalanine intake on phenylketonuria.

BICKEL H, GERRARD J, HICKMANS EM.

Lancet. 1953 Oct 17;265(6790):812-3. No abstract available.

PMID:
13098090
19.

Phenylpyruvic oligophrenia deficiency of phenylalanine-oxidizing system.

JERVIS GA.

Proc Soc Exp Biol Med. 1953 Mar;82(3):514-5. No abstract available.

PMID:
13047448
20.

Genetic diversity within the R408W phenylketonuria mutation lineages in Europe.

Tighe O, Dunican D, O'Neill C, Bertorelle G, Beattie D, Graham C, Zschocke J, Cali F, Romano V, Hrabincova E, Kozak L, Nechyporenko M, Livshits L, Guldberg P, Jurkowska M, Zekanowski C, Perez B, Desviat LR, Ugarte M, Kucinskas V, Knappskog P, Treacy E, Naughten E, Tyfield L, Byck S, Scriver CR, Mayne PD, Croke DT.

Hum Mutat. 2003 Apr;21(4):387-93.

PMID:
12655548

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