Coşkun T - Search Results

1

Galactosemia in the Turkish population with a high frequency of Q188R mutation and distribution of Duarte-1 and Duarte-2 variations.

Özgül RK, Güzel-Ozantürk A, Dündar H, Yücel-Yılmaz D, Coşkun T, Sivri S, Aydoǧdu S, Tokatlı A, Dursun A. Özgül RK, et al. Among authors: coskun t. J Hum Genet. 2013 Oct;58(10):675-8. doi: 10.1038/jhg.2013.76. Epub 2013 Aug 8. J Hum Genet. 2013. PMID: 23924834

2

The major presenting symptom in a biotinidase-deficient patient: laryngeal stridor.

Tokatli A, Coşkun T, Ozalp I, Günay M. Tokatli A, et al. Among authors: coskun t. J Inherit Metab Dis. 1992;15(2):281-2. doi: 10.1007/BF01799644. J Inherit Metab Dis. 1992. PMID: 1527996 No abstract available.

3

Fifteen years' experience with 212 hyperammonaemic cases at a metabolic unit.

Tokatli A, Coşkun T, Ozalp I. Tokatli A, et al. Among authors: coskun t. J Inherit Metab Dis. 1991;14(5):698-706. doi: 10.1007/BF01799938. J Inherit Metab Dis. 1991. PMID: 1779617 No abstract available.

4

Valproate-induced lethal hyperammonaemic coma in a carrier of ornithine carbamoyltransferase deficiency.

Tokatli A, Coşkun T, Cataltepe S, Ozalp I. Tokatli A, et al. Among authors: coskun t. J Inherit Metab Dis. 1991;14(5):836-7. doi: 10.1007/BF01799961. J Inherit Metab Dis. 1991. PMID: 1779634 No abstract available.

5

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: coskun t. Hum Genet. 1989 Mar;81(4):373-6. doi: 10.1007/BF00283695. Hum Genet. 1989. PMID: 2564839

6

Mutational analysis of Turkish galactosaemia patients.

Coskun T, Erkul E, Seyrantepe V, Ozgüç M, Tokatli A, Ozalp I. Coskun T, et al. J Inherit Metab Dis. 1995;18(3):368-9. doi: 10.1007/BF00710438. J Inherit Metab Dis. 1995. PMID: 7474913 Clinical Trial. No abstract available.

7

Iminoglycinuria: a benign type of inherited aminoaciduria.

Coşkun T, Ozalp I, Tokatli A. Coşkun T, et al. Turk J Pediatr. 1993 Apr-Jun;35(2):121-5. Turk J Pediatr. 1993. PMID: 7504361

8

Study of 12 mutations in Turkish cystic fibrosis patients.

Yilmaz E, Erdem H, Ozgüç M, Coşkun T, Ozçelik U, Göçmen A, Ozalp I. Yilmaz E, et al. Among authors: coskun t. Hum Hered. 1995 May-Jun;45(3):175-7. doi: 10.1159/000154281. Hum Hered. 1995. PMID: 7542223

9

Hyperphenylalaninaemia due to tetrahydrobiopterin deficiency: a report of 16 cases.

Coskun T, Ozalp I, Tokatli A, Blau N, Niederwieser A. Coskun T, et al. J Inherit Metab Dis. 1993;16(3):605-7. doi: 10.1007/BF00711694. J Inherit Metab Dis. 1993. PMID: 7609463 No abstract available.

10

Genetic and neurological evaluation of untreated and late-treated patients with phenylketonuria.

Ozalp I, Coşkun T, Ozgüç M, Tokatli A, Yalaz K, Vanli L, Yilmaz E, Erbay A. Ozalp I, et al. Among authors: coskun t. J Inherit Metab Dis. 1994;17(3):371. doi: 10.1007/BF00711834. J Inherit Metab Dis. 1994. PMID: 7807957 No abstract available.

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