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Items: 1 to 20 of 3050

1.
Lesch–Nyhan syndrome: a case report
Han Ick Park, Gu-Hwan Kim, Kang-Min Ahn
J Korean Assoc Oral Maxillofac Surg. 2023 Aug 31; 49(4): 228–232. Published online 2023 Aug 31. doi: 10.5125/jkaoms.2023.49.4.228
PMCID:
PMC10466019
ArticlePubReaderPDF–8.7MCite
2.
The Role of Video-EEG Monitoring in Lesch-Nyhan Syndrome
Eugenia ROZA, Anca Denisa BALOI, Vasilica PLAIASU, Raluca Ioana TELEANU
Maedica (Bucur) 2023 Jun; 18(2): 348–351. doi: 10.26574/maedica.2023.18.2.348
PMCID:
PMC10427108
ArticlePubReaderPDF–404KCite
3.
Single-Electrode Deep Brain Stimulation of Bilateral Posterolateral Globus Pallidus Internus in Patients With Medically Resistant Lesch-Nyhan Syndrome
Eliza Baird-Daniel, Adam Glaser, Scott Boop, Sharon Durfy, Jason S Hauptman
Cureus. 2023 Apr; 15(4): e37070. Published online 2023 Apr 3. doi: 10.7759/cureus.37070
PMCID:
PMC10155820
ArticlePubReaderPDF–255KCite
4.
Therapeutic gene correction for Lesch-Nyhan syndrome using CRISPR-mediated base and prime editing
Gayoung Jang, Ha Rim Shin, Hyo-Sang Do, Jiyeon Kweon, Soojin Hwang, Soyoung Kim, Sun Hee Heo, Yongsub Kim, Beom Hee Lee
Mol Ther Nucleic Acids. 2023 Mar 14; 31: 586–595. Published online 2023 Feb 14. doi: 10.1016/j.omtn.2023.02.009
PMCID:
PMC9996127
ArticlePubReaderPDF–1.7MCite
5.
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
Albandary AlBakheet, Hanan AlQudairy, Joud Alkhalifah, Sheikhah Almoaily, Namik Kaya, Zuhair Rahbeeni
Front Genet. 2022; 13: 1044936. Published online 2023 Jan 26. doi: 10.3389/fgene.2022.1044936
PMCID:
PMC9908584
ArticlePubReaderPDF–1.3MCite
6.
Oral Self-Mutilation in Lesch-Nyhan Syndrome: A Case Report
José Ferrão, Cristina Rodrigues Barros, Luísa Figueiredo, Ana Fernandes
Cureus. 2022 Aug; 14(8): e27874. Published online 2022 Aug 11. doi: 10.7759/cureus.27874
PMCID:
PMC9463611
ArticlePubReaderPDF–1.0MCite
7.
Congenital anomalies-associated Riga–Fede disease as an early manifestation of Lesch–Nyhan syndrome: rare entities in the same pediatric patient—a case report
Aliaa Abdelmoniem Bedeir Eita
BMC Oral Health. 2022; 22: 26. Published online 2022 Feb 2. doi: 10.1186/s12903-022-02060-1
PMCID:
PMC8808768
ArticlePubReaderPDF–952KCite
8.
Paroxysmal hyperthermia, dysautonomia and rhabdomyolysis in a patient with Lesch–Nyhan syndrome
Mandeep Rana, Karen Cuttin, Gerard T. Berry, Alcy Torres
JIMD Rep. 2021 Nov; 62(1): 30–34. Published online 2021 Sep 28. doi: 10.1002/jmd2.12249
PMCID:
PMC8574172
ArticlePubReaderPDF–560KCite
9.
Recurrent Xanthine Stones in a Young Patient with Lesch–Nyhan Syndrome
Margaret F. Meagher, Seth K. Bechis
J Endourol Case Rep. 2020; 6(4): 268–270. Published online December 2020. doi: 10.1089/cren.2020.0046
PMCID:
PMC7803241
ArticlePubReaderPDF–156KCite
10.
Delayed emergence from propofol anesthesia in a patient with Lesch-Nyhan syndrome: A case report
Jungwon Lee, Sung Mee Jung, Sungmin Jeon
Medicine (Baltimore) 2020 Aug 21; 99(34): e21847. Published online 2020 Aug 21. doi: 10.1097/MD.0000000000021847
PMCID:
PMC7447411
ArticlePubReaderPDF–172KCite
11.
Xanthine calculi in a patient with Lesch-Nyhan syndrome and factor V Leiden treated with allopurinol: case report
Lisa B. E. Shields, Dennis S. Peppas, Eran Rosenberg
BMC Pediatr. 2018; 18: 231. Published online 2018 Jul 12. doi: 10.1186/s12887-018-1197-5
PMCID:
PMC6043999
ArticlePubReaderPDF–1.5MCite
12.
Lesch-Nyhan syndrome: The saga of metabolic abnormalities and self-injurious behavior
Nitesh Tewari, Vijay Prakash Mathur, Divesh Sardana, Kalpana Bansal
Intractable Rare Dis Res. 2017 Feb; 6(1): 65–68. doi: 10.5582/irdr.2016.01076
PMCID:
PMC5359358
ArticlePubReaderPDF–571KCite
13.
Lesch-Nyhan Syndrome: Models, Theories, and Therapies
Scott Bell, Ilaria Kolobova, Liam Crapper, Carl Ernst
Mol Syndromol. 2016 Nov; 7(6): 302–311. Published online 2016 Sep 24. doi: 10.1159/000449296
PMCID:
PMC5131334
ArticlePubReaderPDF–166KCite
14.
Self-injurious Behavior in a Young Child with Lesch-Nyhan Syndrome
Satyakam Mohapatra, Alok Jyoti Sahoo
Indian J Psychol Med. 2016 Sep-Oct; 38(5): 477–479. doi: 10.4103/0253-7176.191389
PMCID:
PMC5052966
ArticlePubReaderPDF–622KCite
15.
Lesch-Nyhan Syndrome: Disorder of Self-mutilating Behavior
Prasad Jathar, Amey M Panse, Madhura Jathar, Pritesh N Gawali
Int J Clin Pediatr Dent. 2016 Apr-Jun; 9(2): 139–142. Published online 2016 Jun 15. doi: 10.5005/jp-journals-10005-1350
PMCID:
PMC4921883
ArticlePubReaderPDF–1.5MCite
16.
Lesch-Nyhan Syndrome in an Indian Child
Priyanka Chandekar, Bhushan Madke, Sumit Kar, Nidhi Yadav
Indian J Dermatol. 2015 May-Jun; 60(3): 298–300. doi: 10.4103/0019-5154.156392
PMCID:
PMC4458947
ArticlePubReaderCite
17.
Striatal Neurodevelopment Is Dysregulated in Purine Metabolism Deficiency and Impacts DARPP-32, BDNF/TrkB Expression and Signaling: New Insights on the Molecular and Cellular Basis of Lesch-Nyhan Syndrome
Ghiabe-Henri Guibinga, Nikki Barron, William Pandori
PLoS One. 2014; 9(5): e96575. Published online 2014 May 7. doi: 10.1371/journal.pone.0096575
PMCID:
PMC4013014
ArticlePubReaderPDF–1.6MCite
18.
Deficiency of the purine metabolic gene HPRT dysregulates microRNA-17 family cluster and guanine-based cellular functions: a role for EPAC in Lesch-Nyhan syndrome
Ghiabe-Henri Guibinga, Fiona Murray, Nikki Barron, William Pandori, Gorjan Hrustanovic
Hum Mol Genet. 2013 Nov 15; 22(22): 4502–4515. Published online 2013 Jun 25. doi: 10.1093/hmg/ddt298
PMCID:
PMC3888132
ArticlePubReaderPDF–791KCite
19.
An unanticipated difficult airway in Lesch–Nyhan syndrome
Rashmi Salhotra, Chhavi Sharma, Asha Tyagi, Surendra Kumar, AK Sethi, Shuchi Bhatt
J Anaesthesiol Clin Pharmacol. 2012 Apr-Jun; 28(2): 239–241. doi: 10.4103/0970-9185.94909
PMCID:
PMC3339734
ArticlePubReaderPDF–1.0MCite
20.
Molecular analysis of hypoxanthine guanine phosphoribosyltransferase (HPRT) gene in five Korean families with Lesch-Nyhan syndrome.
K. J. Kim, Y. Yamada, K. Suzumori, Y. Choi, S. W. Yang, H. I. Cheong, Y. S. Hwang, H. Goto, N. Ogasawara
J Korean Med Sci. 1997 Aug; 12(4): 332–339. doi: 10.3346/jkms.1997.12.4.332
PMCID:
PMC3054221
SummaryPDF–729KCite

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