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Items: 1 to 20 of 269

1.

Phenylalanine hydroxylase expression in liver of a fetus with phenylketonuria.

Ledley FD, Koch R, Jew K, Beaudet A, O'Brien WE, Bartos DP, Woo SL.

J Pediatr. 1988 Sep;113(3):463-8.

PMID:
2900886
2.

[Genetic diagnosis in classical phenylketonuria].

Wulff K, Herrmann FH, Wehnert M, Seidlitz G, Schütz M.

Z Arztl Fortbild (Jena). 1988;82(22):1127-31. German. No abstract available.

PMID:
2907835
3.
4.

Gene transfer and expression of human phenylalanine hydroxylase.

Ledley FD, Grenett HE, DiLella AG, Kwok SC, Woo SL.

Science. 1985 Apr 5;228(4695):77-9.

PMID:
3856322
5.
6.

Molecular studies and prenatal diagnosis of phenylketonuria in Chinese patients.

Fan GX, Qing LX, Jun Y, Mei Z.

Southeast Asian J Trop Med Public Health. 1999;30 Suppl 2:63-5.

PMID:
11400788
7.
8.

Diagnosis of phenylalanine hydroxylase deficiency (phenylketonuria).

Berry HK, Hsieh MH, Bofinger MK, Schubert WK.

Am J Dis Child. 1982 Feb;136(2):111-4.

PMID:
7064923
10.

Prenatal detection of an Arg----Ter mutation at codon 111 of the PAH gene using DNA amplification.

Huang SZ, Zhou XD, Ren ZR, Zeng YT, Woo SL.

Prenat Diagn. 1990 May;10(5):289-93.

PMID:
1975096
11.
12.
13.

[Genetic heterogeneity and approaches to the prenatal diagnosis of phenylketonuria (review)].

Chestkov VV, Shishkin SS.

Vopr Med Khim. 1986 Jul-Aug;32(4):7-12. Review. Russian.

PMID:
3020793
14.

Polymorphic DNA haplotypes at the human phenylalanine hydroxylase locus and their relationship with phenylketonuria.

Chakraborty R, Lidsky AS, Daiger SP, Güttler F, Sullivan S, Dilella AG, Woo SL.

Hum Genet. 1987 May;76(1):40-6.

PMID:
2883110
15.

Newborn mass screening and molecular genetics of phenylketonuria in east Asia.

Okano Y, Isshiki G.

Southeast Asian J Trop Med Public Health. 1995;26 Suppl 1:123-9.

PMID:
8629090
16.

[Mutation analysis of phenylalanine hydroxylase gene in patients w ith phenylketonuria in Henan province].

GUO HJ, ZHAO ZH, JIANG M, SHI HR, KONG XD.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2011 Apr;28(2):142-6. doi: 10.3760/cma.j.issn.1003-9406.2011.02.005. Chinese.

PMID:
21462123
18.

Extensive restriction site polymorphism at the human phenylalanine hydroxylase locus and application in prenatal diagnosis of phenylketonuria.

Lidsky AS, Ledley FD, DiLella AG, Kwok SC, Daiger SP, Robson KJ, Woo SL.

Am J Hum Genet. 1985 Jul;37(4):619-34.

20.

Illegitimate transcription of the phenylalanine hydroxylase gene in lymphocytes for identification of mutations in phenylketonuria.

Abadie V, Jaruzelska J, Lyonnet S, Millasseau P, Berthelon M, Rey F, Munnich A, Rey J.

Hum Mol Genet. 1993 Jan;2(1):31-4.

PMID:
8098245

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