PubMed for id: 9721

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Page 1

Lesch-Nyhan syndrome: a case report.

Park HI, Kim GH, Ahn KM. Park HI, et al. J Korean Assoc Oral Maxillofac Surg. 2023 Aug 31;49(4):228-232. doi: 10.5125/jkaoms.2023.49.4.228. J Korean Assoc Oral Maxillofac Surg. 2023. PMID: 37641907 Free PMC article.

The Role of Video-EEG Monitoring in Lesch-Nyhan Syndrome.

Roza E, Baloi AD, Plaiasu V, Teleanu RI. Roza E, et al. Maedica (Bucur). 2023 Jun;18(2):348-351. doi: 10.26574/maedica.2023.18.2.348. Maedica (Bucur). 2023. PMID: 37588833 Free PMC article.

[Genetic analysis of a Chinese pedigree with Lesch-Nyhan syndrome].

Wang D, Zhao J, Teng J, Li W, Zhao X, Li L. Wang D, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023 Jun 10;40(6):723-726. doi: 10.3760/cma.j.cn511374-20220916-00629. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023. PMID: 37212010 Chinese.

Single-Electrode Deep Brain Stimulation of Bilateral Posterolateral Globus Pallidus Internus in Patients With Medically Resistant Lesch-Nyhan Syndrome.

Baird-Daniel E, Glaser A, Boop S, Durfy S, Hauptman JS. Baird-Daniel E, et al. Cureus. 2023 Apr 3;15(4):e37070. doi: 10.7759/cureus.37070. eCollection 2023 Apr. Cureus. 2023. PMID: 37153246 Free PMC article.

Therapeutic gene correction for Lesch-Nyhan syndrome using CRISPR-mediated base and prime editing.

Jang G, Shin HR, Do HS, Kweon J, Hwang S, Kim S, Heo SH, Kim Y, Lee BH. Jang G, et al. Mol Ther Nucleic Acids. 2023 Feb 14;31:586-595. doi: 10.1016/j.omtn.2023.02.009. eCollection 2023 Mar 14. Mol Ther Nucleic Acids. 2023. PMID: 36910714 Free PMC article.

Detailed genetic and clinical analysis of a novel de novo variant in HPRT1: Case report of a female patient from Saudi Arabia with Lesch-Nyhan syndrome.

AlBakheet A, AlQudairy H, Alkhalifah J, Almoaily S, Kaya N, Rahbeeni Z. AlBakheet A, et al. Front Genet. 2023 Jan 26;13:1044936. doi: 10.3389/fgene.2022.1044936. eCollection 2022. Front Genet. 2023. PMID: 36778911 Free PMC article.

Deep brain stimulation in Lesch-Nyhan syndrome: a systematic review.

Deng H, Xiong BT, Wu Y, Wang W. Deng H, et al. Neurosurg Rev. 2023 Jan 25;46(1):40. doi: 10.1007/s10143-023-01950-4. Neurosurg Rev. 2023. PMID: 36694014

[Analysis of HPRT1 gene variant and prenatal diagnosis for a Chinese pedigree with Lesch-Nyhan syndrome but no specimen from affected probands].

Tong M, Li Q, Sun A, Chen C, Hu S. Tong M, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Nov 10;39(11):1243-1246. doi: 10.3760/cma.j.cn511374-20211029-00861. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022. PMID: 36317211 Chinese.

Oral Self-Mutilation in Lesch-Nyhan Syndrome: A Case Report.

Ferrão J, Rodrigues Barros C, Figueiredo L, Fernandes A. Ferrão J, et al. Cureus. 2022 Aug 11;14(8):e27874. doi: 10.7759/cureus.27874. eCollection 2022 Aug. Cureus. 2022. PMID: 36110449 Free PMC article.

Ethical implications of early genetic diagnosis in an infant with Lesch-Nyhan syndrome.

Zhang T, Briere JM, Leeman KT, Wojcik MH, Agrawal PB. Zhang T, et al. J Genet Couns. 2022 Dec;31(6):1434-1437. doi: 10.1002/jgc4.1616. Epub 2022 Aug 2. J Genet Couns. 2022. PMID: 35916015 Free PMC article.

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