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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1987 1
1989 2
1990 1
1991 2
1992 2
1993 4
1994 5
1995 6
1996 5
1997 3
1998 6
1999 8
2000 5
2001 5
2002 2
2003 5
2004 6
2005 5
2006 5
2007 1
2008 6
2009 4
2010 6
2011 8
2012 5
2014 7
2015 6
2016 8
2017 9
2018 8
2019 12
2020 9
2021 12
2022 8
2023 5
2024 4

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182 results

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Page 1
The Genetic Landscape and Epidemiology of Phenylketonuria.
Hillert A, Anikster Y, Belanger-Quintana A, Burlina A, Burton BK, Carducci C, Chiesa AE, Christodoulou J, Đorđević M, Desviat LR, Eliyahu A, Evers RAF, Fajkusova L, Feillet F, Bonfim-Freitas PE, Giżewska M, Gundorova P, Karall D, Kneller K, Kutsev SI, Leuzzi V, Levy HL, Lichter-Konecki U, Muntau AC, Namour F, Oltarzewski M, Paras A, Perez B, Polak E, Polyakov AV, Porta F, Rohrbach M, Scholl-Bürgi S, Spécola N, Stojiljković M, Shen N, Santana-da Silva LC, Skouma A, van Spronsen F, Stoppioni V, Thöny B, Trefz FK, Vockley J, Yu Y, Zschocke J, Hoffmann GF, Garbade SF, Blau N. Hillert A, et al. Among authors: thony b. Am J Hum Genet. 2020 Aug 6;107(2):234-250. doi: 10.1016/j.ajhg.2020.06.006. Epub 2020 Jul 14. Am J Hum Genet. 2020. PMID: 32668217 Free PMC article.
Editorial.
Häberle J, Thöny B. Häberle J, et al. Among authors: thony b. J Inherit Metab Dis. 2019 Nov;42(6):1041-1043. doi: 10.1002/jimd.12179. J Inherit Metab Dis. 2019. PMID: 31769067 Free article. No abstract available.
State-of-the-art 2023 on gene therapy for phenylketonuria.
Martinez M, Harding CO, Schwank G, Thöny B. Martinez M, et al. Among authors: thony b. J Inherit Metab Dis. 2024 Jan;47(1):80-92. doi: 10.1002/jimd.12651. Epub 2023 Aug 3. J Inherit Metab Dis. 2024. PMID: 37401651 Review.
Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies.
Opladen T, López-Laso E, Cortès-Saladelafont E, Pearson TS, Sivri HS, Yildiz Y, Assmann B, Kurian MA, Leuzzi V, Heales S, Pope S, Porta F, García-Cazorla A, Honzík T, Pons R, Regal L, Goez H, Artuch R, Hoffmann GF, Horvath G, Thöny B, Scholl-Bürgi S, Burlina A, Verbeek MM, Mastrangelo M, Friedman J, Wassenberg T, Jeltsch K, Kulhánek J, Kuseyri Hübschmann O; International Working Group on Neurotransmitter related Disorders (iNTD). Opladen T, et al. Among authors: thony b. Orphanet J Rare Dis. 2020 May 26;15(1):126. doi: 10.1186/s13023-020-01379-8. Orphanet J Rare Dis. 2020. PMID: 32456656 Free PMC article. Review.
In vivo prime editing of a metabolic liver disease in mice.
Böck D, Rothgangl T, Villiger L, Schmidheini L, Matsushita M, Mathis N, Ioannidi E, Rimann N, Grisch-Chan HM, Kreutzer S, Kontarakis Z, Kopf M, Thöny B, Schwank G. Böck D, et al. Among authors: thony b. Sci Transl Med. 2022 Mar 16;14(636):eabl9238. doi: 10.1126/scitranslmed.abl9238. Epub 2022 Mar 16. Sci Transl Med. 2022. PMID: 35294257 Free PMC article.
Tetrahydrobiopterin in biomedical research.
Blau N, Thöny B. Blau N, et al. Among authors: thony b. J Inherit Metab Dis. 2009 Feb;32(1):1-2. doi: 10.1007/s10545-009-9967-8. J Inherit Metab Dis. 2009. PMID: 19169840 Free article. No abstract available.
State-of-the-Art 2019 on Gene Therapy for Phenylketonuria.
Grisch-Chan HM, Schwank G, Harding CO, Thöny B. Grisch-Chan HM, et al. Among authors: thony b. Hum Gene Ther. 2019 Oct;30(10):1274-1283. doi: 10.1089/hum.2019.111. Epub 2019 Sep 9. Hum Gene Ther. 2019. PMID: 31364419 Free PMC article. Review.
182 results