Thöny B - Search Results

1

Corrigendum to: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.

Himmelreich N, Bertoldi M, Alfadhel M, Alghamdi MA, Anikster Y, Bao X, Bashiri FA, Zeev BB, Bisello G, Ceylan AC, Chien YH, Choy YS, Elsea SH, Flint L, García-Cazorla À, Gijavanekar C, Gümüş EY, Hamad MH, Hişmi B, Honzik T, Kuseyri Hübschmann O, Hwu WL, Ibáñez-Micó S, Jeltsch K, Juliá-Palacios N, Kasapkara ÇS, Kurian MA, Kusmierska K, Liu N, Ngu LH, Odom JD, Ong WP, Opladen T, Oppeboen M, Pearl PL, Pérez B, Pons R, Rygiel AM, Shien TE, Spaull R, Sykut-Cegielska J, Tabarki B, Tangeraas T, Thöny B, Wassenberg T, Wen Y, Yakob Y, Yin JGC, Zeman J, Blau N. Himmelreich N, et al. Among authors: thony b. Mol Genet Metab. 2023 Aug;139(4):107647. doi: 10.1016/j.ymgme.2023.107647. Epub 2023 Jul 7. Mol Genet Metab. 2023. PMID: 37453860 No abstract available.

2

Characterization of the human PCBD gene encoding the bifunctional protein pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor for the transcription factor HNF-1 alpha.

Thöny B, Neuheiser F, Blau N, Heizmann CW. Thöny B, et al. Biochem Biophys Res Commun. 1995 May 25;210(3):966-73. doi: 10.1006/bbrc.1995.1751. Biochem Biophys Res Commun. 1995. PMID: 7763270

3

Hyperphenylalaninemia due to defects in tetrahydrobiopterin metabolism: molecular characterization of mutations in 6-pyruvoyl-tetrahydropterin synthase.

Thöny B, Leimbacher W, Blau N, Harvie A, Heizmann CW. Thöny B, et al. Am J Hum Genet. 1994 May;54(5):782-92. Am J Hum Genet. 1994. PMID: 8178819 Free PMC article.

4

Human liver 6-pyruvoyl-tetrahydropterin synthase: expression of the cDNA, purification and preliminary characterization of the recombinant protein.

Thöny B, Leimbacher W, Blau N, Heizmann CW, Bürgisser D. Thöny B, et al. Adv Exp Med Biol. 1993;338:187-90. doi: 10.1007/978-1-4615-2960-6_37. Adv Exp Med Biol. 1993. PMID: 8304107 No abstract available.

5

Expression and characterization of recombinant human and rat liver 6-pyruvoyl tetrahydropterin synthase. Modified cysteine residues inhibit the enzyme activity.

Bürgisser DM, Thöny B, Redweik U, Hunziker P, Heizmann CW, Blau N. Bürgisser DM, et al. Among authors: thony b. Eur J Biochem. 1994 Jan 15;219(1-2):497-502. doi: 10.1111/j.1432-1033.1994.tb19964.x. Eur J Biochem. 1994. PMID: 8307017 Free article.

6

Tetrahydrobiopterin and inherited hyperphenylalaninemias.

Blau N, Thony B, Spada M, Ponzone A. Blau N, et al. Among authors: thony b. Turk J Pediatr. 1996 Jan-Mar;38(1):19-35. Turk J Pediatr. 1996. PMID: 8819618 Review.

7

Chromosomal localization, genomic structure and characterization of the human gene and a retropseudogene for 6-pyruvoyltetrahydropterin synthase.

Kluge C, Brecevic L, Heizmann CW, Blau N, Thöny B. Kluge C, et al. Among authors: thony b. Eur J Biochem. 1996 Sep 1;240(2):477-84. doi: 10.1111/j.1432-1033.1996.0477h.x. Eur J Biochem. 1996. PMID: 8841415 Free article.

8

Retrovirus-mediated gene transfer of 6-pyruvoyl-tetrahydropterin synthase corrects tetrahydrobiopterin deficiency in fibroblasts from hyperphenylalaninemic patients.

Thöny B, Leimbacher W, Stuhlmann H, Heizmann CW, Blau N. Thöny B, et al. Hum Gene Ther. 1996 Aug 20;7(13):1587-93. doi: 10.1089/hum.1996.7.13-1587. Hum Gene Ther. 1996. PMID: 8864759

9

Mutations in the GTP cyclohydrolase I and 6-pyruvoyl-tetrahydropterin synthase genes.

Thöny B, Blau N. Thöny B, et al. Hum Mutat. 1997;10(1):11-20. doi: 10.1002/(SICI)1098-1004(1997)10:1<11::AID-HUMU2>3.0.CO;2-P. Hum Mutat. 1997. PMID: 9222755 Review.

10

Tetrahydrobiopterin in the treatment of infantile hypertrophic pyloric stenosis.

Braegger CP, Schwöbel M, Känel J, Werner ER, Thöny B, Blau N. Braegger CP, et al. Among authors: thony b. Biochem Mol Med. 1997 Oct;62(1):101-5. doi: 10.1006/bmme.1997.2628. Biochem Mol Med. 1997. PMID: 9367805

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

183 results

Search Page

Filters