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2001 9
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2007 6
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2010 14
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357 results

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The following term was not found in PubMed: Huera-Lucero
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. 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 Free PMC article. Review.
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.
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.
PI-QUAL version 2: an update of a standardised scoring system for the assessment of image quality of prostate MRI.
de Rooij M, Allen C, Twilt JJ, Thijssen LCP, Asbach P, Barrett T, Brembilla G, Emberton M, Gupta RT, Haider MA, Kasivisvanathan V, Løgager V, Moore CM, Padhani AR, Panebianco V, Puech P, Purysko AS, Renard-Penna R, Richenberg J, Salomon G, Sanguedolce F, Schoots IG, Thöny HC, Turkbey B, Villeirs G, Walz J, Barentsz J, Giganti F. de Rooij M, et al. Eur Radiol. 2024 Nov;34(11):7068-7079. doi: 10.1007/s00330-024-10795-4. Epub 2024 May 24. Eur Radiol. 2024. PMID: 38787428 Free PMC article.
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.
357 results