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Items: 1 to 20 of 218

1.

Heterozygote detection in phenylketonuria.

Güttler F, Hansen G.

Clin Genet. 1977 Feb;11(2):137-46.

PMID:
837563
2.

Different phenotypes for phenylalanine hydroxylase deficiency.

Güttler F, Hansen G.

Ann Clin Biochem. 1977 May;14(3):124-34.

PMID:
869488
4.

Improved identification of heterozygotes for phenylketonuria using blood neopterin and biopterin.

Alós T, Bel Y, Cabello ML, Catalá JL, Dalmau J, Ferré J, García AM, Ruiz-Vázquez P.

J Inherit Metab Dis. 1993;16(2):457-64.

PMID:
8412006
5.
6.
7.
8.

Phenylketonuria heterozygote detection in families with affected children.

Paul TD, Brandt IK, Elsas LJ, Jackson CE, Mamunes P, Nance CS, Nance WE.

Am J Hum Genet. 1978 May;30(3):293-301.

9.

Hyperphenylalaninemia in a premature infant with heterozygosity for phenylketonuria.

Hennermann JB, Loui A, Weber A, Mönch E.

J Perinat Med. 2004;32(4):383-5.

PMID:
15346830
12.

Compound heterozygotes in hyperphenylalaninaemia.

Bartholomé K, Olek K, Trefz F.

Hum Genet. 1984;65(4):405-6.

PMID:
6693130
13.

Serum tyrosine within the first hour after an oral load of phenylalanine.

Güttler F, Hansen G.

Scand J Clin Lab Invest. 1977 Dec;37(8):717-21.

PMID:
601515
15.
16.

Hyperphenylalaninemia: diagnosis and classification of the various types of phenylalanine hydroxylase deficiency in childhood.

Güttler F.

Acta Paediatr Scand Suppl. 1980;280:1-80. Review. No abstract available.

PMID:
7006308
17.

Phenylalanine hydroxylase deficiency.

Mitchell JJ, Trakadis YJ, Scriver CR.

Genet Med. 2011 Aug;13(8):697-707. doi: 10.1097/GIM.0b013e3182141b48. Review.

PMID:
21555948
19.
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