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

Year Number of Results
1957 1
1963 2
1964 1
1967 1
1973 1
1974 1
1976 1
1977 1
1982 1
1984 1
1987 1
1989 2
1990 1
1991 2
1992 4
1993 5
1994 8
1995 11
1996 10
1997 4
1998 11
1999 13
2000 7
2001 9
2002 2
2003 7
2004 8
2005 9
2006 11
2007 6
2008 9
2009 7
2010 14
2011 13
2012 13
2013 7
2014 17
2015 19
2016 16
2017 19
2018 12
2019 17
2020 15
2021 20
2022 22
2023 12
2024 8

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348 results

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The following term was not found in PubMed: Huera-Lucero
Page 1
Editorial.
Häberle J, Thöny B. Häberle J, et al. 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.
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. 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.
State-of-the-art 2023 on gene therapy for phenylketonuria.
Martinez M, Harding CO, Schwank G, Thöny B. Martinez M, et al. 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. 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. 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.
Effect of Prophylactic Embolization on Patients With Blunt Trauma at High Risk of Splenectomy: A Randomized Clinical Trial.
Arvieux C, Frandon J, Tidadini F, Monnin-Bares V, Foote A, Dubuisson V, Lermite E, David JS, Douane F, Tresallet C, Lemoine MC, Rodiere M, Bouzat P, Bosson JL, Vilotitch A, Barbois S, Thony F; Splenic Arterial Embolization to Avoid Splenectomy (SPLASH) Study Group. Arvieux C, et al. JAMA Surg. 2020 Dec 1;155(12):1102-1111. doi: 10.1001/jamasurg.2020.3672. JAMA Surg. 2020. PMID: 32936242 Free PMC article. Clinical Trial.
Tetrahydrobiopterin in biomedical research.
Blau N, Thöny B. Blau N, et al. 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. 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.
Acquired pulmonary artery pseudoaneurysms: a pictorial review.
Guillaume B, Vendrell A, Stefanovic X, Thony F, Ferretti GR. Guillaume B, et al. Br J Radiol. 2017 May;90(1073):20160783. doi: 10.1259/bjr.20160783. Epub 2017 Mar 24. Br J Radiol. 2017. PMID: 28337922 Free PMC article. Review.
348 results