Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 17

2.

The influence of mutations of enzyme activity and phenylalanine tolerance in phenylalanine hydroxylase deficiency.

G├╝ttler F, Guldberg P.

Eur J Pediatr. 1996 Jul;155 Suppl 1:S6-10. Review.

PMID:
8828600
3.

[Genetics and hyperphenylalaninemias in 1992].

Touraine RL, Guibaud P.

Pediatrie. 1992;47(1):9-21. Review. French. Erratum in: Pediatrie 1992;47(4):331.

PMID:
1363245
4.

Phenylketonuria and the phenylalanine hydroxylase gene.

Eisensmith RC, Woo SL.

Mol Biol Med. 1991 Feb;8(1):3-18. Review.

PMID:
1943687
5.
6.

The structural basis of phenylketonuria.

Erlandsen H, Stevens RC.

Mol Genet Metab. 1999 Oct;68(2):103-25. Review.

PMID:
10527663
7.

The phenylalanine hydroxylase locus: a marker for the history of phenylketonuria and human genetic diversity. PAH Mutation Analysis Consortium.

Scriver CR, Byck S, Prevost L, Hoang L.

Ciba Found Symp. 1996;197:73-90; discussion 90-6. Review.

PMID:
8827369
8.
9.

The PAH gene, phenylketonuria, and a paradigm shift.

Scriver CR.

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

PMID:
17443661
10.
11.

Phenylketonuria and other phenylalanine hydroxylation mutants in man.

Scriver CR, Clow CL.

Annu Rev Genet. 1980;14:179-202. Review. No abstract available.

PMID:
7011173
12.

Mendelian hyperphenylalaninemia.

Scriver CR, Kaufman S, Woo SL.

Annu Rev Genet. 1988;22:301-21. Review. No abstract available.

PMID:
3071251
13.

The hyperphenylalaninemias of man and mouse.

Scriver CR, Eisensmith RC, Woo SL, Kaufman S.

Annu Rev Genet. 1994;28:141-65. Review. No abstract available.

PMID:
7893121
14.

Molecular genetics of phenylketonuria and its implications.

Levy HL.

Am J Hum Genet. 1989 Nov;45(5):667-70. Review. No abstract available.

15.

On the mechanism of permanent brain dysfunction in hyperphenylalaninemia.

Hommes FA.

Biochem Med Metab Biol. 1991 Dec;46(3):277-87. Review. No abstract available.

PMID:
1793607
16.

Phenylketonuria as a model for protein misfolding diseases and for the development of next generation orphan drugs for patients with inborn errors of metabolism.

Muntau AC, Gersting SW.

J Inherit Metab Dis. 2010 Dec;33(6):649-58. doi: 10.1007/s10545-010-9185-4. Epub 2010 Sep 8. Review.

PMID:
20824346
17.

Congenital analbuminaemia: molecular defects and biochemical and clinical aspects.

Minchiotti L, Galliano M, Caridi G, Kragh-Hansen U, Peters T Jr.

Biochim Biophys Acta. 2013 Dec;1830(12):5494-502. doi: 10.1016/j.bbagen.2013.04.019. Epub 2013 Apr 21. Review.

PMID:
23612153

Supplemental Content

Support Center