Trefz FK - Search Results

1

Geographical distribution of the P281L mutation at the phenylalanine hydroxylase locus: possible origin in southeastern Europe.

Barić I, Mardesić D, Sarnavøka V, Lichter-Konecki U, Konecki DS, Trefz FK. Barić I, et al. Among authors: trefz fk. J Inherit Metab Dis. 1994;17(3):376-7. doi: 10.1007/BF00711838. J Inherit Metab Dis. 1994. PMID: 7807961 No abstract available.

2

Structural characterization of the 5' regions of the human phenylalanine hydroxylase gene.

Konecki DS, Wang Y, Trefz FK, Lichter-Konecki U, Woo SL. Konecki DS, et al. Among authors: trefz fk. Biochemistry. 1992 Sep 8;31(35):8363-8. doi: 10.1021/bi00150a033. Biochemistry. 1992. PMID: 1326329

3

Haplotype distribution and mutations at the PAH locus in Croatia.

Barić I, Mardesić D, Gjurić G, Sarnavka V, Göbel-Schreiner B, Lichter-Konecki U, Konecki DS, Trefz FK. Barić I, et al. Among authors: trefz fk. Hum Genet. 1992 Sep-Oct;90(1-2):155-7. doi: 10.1007/BF00210763. Hum Genet. 1992. PMID: 1358784

4

The identification of two mis-sense mutations at the PAH gene locus in a Turkish patient with phenylketonuria.

Konecki DS, Schlotter M, Trefz FK, Lichter-Konecki U. Konecki DS, et al. Among authors: trefz fk. Hum Genet. 1991 Aug;87(4):389-93. doi: 10.1007/BF00197153. Hum Genet. 1991. PMID: 1679030

5

RFLP-patterns in Japanese PKU families: new polymorphisms for the mutant phenylalanine hydroxylase gene.

Trefz FK, Yoshino M, Nishiyori A, Aengeneyndt F, Schmidt-Mader B, Lichter-Konecki U, Konecki DS. Trefz FK, et al. Hum Genet. 1990 Jun;85(1):121-2. doi: 10.1007/BF00276336. Hum Genet. 1990. PMID: 1972692 No abstract available.

6

Molecular basis of phenotypic heterogeneity in phenylketonuria.

Okano Y, Eisensmith RC, Güttler F, Lichter-Konecki U, Konecki DS, Trefz FK, Dasovich M, Wang T, Henriksen K, Lou H, et al. Okano Y, et al. Among authors: trefz fk. N Engl J Med. 1991 May 2;324(18):1232-8. doi: 10.1056/NEJM199105023241802. N Engl J Med. 1991. PMID: 2014036 Free article.

7

DNA haplotype analysis at the phenylalanine hydroxylase locus in the Turkish population.

Lichter-Konecki U, Schlotter M, Yaylak C, Ozgüç M, Coskun T, Ozalp I, Wendel U, Batzler U, Trefz FK, Konecki D. Lichter-Konecki U, et al. Among authors: trefz fk. Hum Genet. 1989 Mar;81(4):373-6. doi: 10.1007/BF00283695. Hum Genet. 1989. PMID: 2564839

8

Direct detection of a major mutation responsible for phenylketonuria in the population of the Federal Republic of Germany.

Lichter-Konecki U, Schlotter M, Trefz FK, Konecki DS. Lichter-Konecki U, et al. Among authors: trefz fk. Eur J Pediatr. 1989 Nov;149(2):120-3. doi: 10.1007/BF01995861. Eur J Pediatr. 1989. PMID: 2591403

9

[DNA diagnosis of monogene hereditary diseases exemplified by phenylketonuria and mucoviscidosis].

Trefz FK, Lichter-Konecki U, Krawczak M, Schmidtke J, Dueck M, Nützenadel W, Konecki DS. Trefz FK, et al. Monatsschr Kinderheilkd. 1989 Apr;137(4):201-7. Monatsschr Kinderheilkd. 1989. PMID: 2659975 Review. German.

10

Phenylalanine hydroxylase deficiency caused by a single base substitution in an exon of the human phenylalanine hydroxylase gene.

Lichter-Konecki U, Konecki DS, DiLella AG, Brayton K, Marvit J, Hahn TM, Trefz FK, Woo SL. Lichter-Konecki U, et al. Among authors: trefz fk. Biochemistry. 1988 Apr 19;27(8):2881-5. doi: 10.1021/bi00408a032. Biochemistry. 1988. PMID: 2840952

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