PubMed for id: 374193

Year	Number of Results
1974	1
1981	3
1984	1
1985	1
1986	1
1991	1
1992	2
1994	2
1996	1
1998	3
1999	1
2000	1
2001	1
2002	1
2003	2
2004	1
2005	1
2006	5
2007	3
2011	2
2013	1
2014	1
2016	2
2018	1
2019	1
2020	2
2024	0

1

A new X-linked syndrome comprising progressive basal ganglion dysfunction, mental and growth retardation, external ophthalmoplegia, postnatal microcephaly and deafness.

Schimke RN, Horton WA, Collins DL, Therou L. Schimke RN, et al. Am J Med Genet. 1984 Jan;17(1):323-32. doi: 10.1002/ajmg.1320170125. Am J Med Genet. 1984. PMID: 6538752

2

Rett Syndrome as a movement and motor disorder - A narrative review.

Brunetti S, Lumsden DE. Brunetti S, et al. Eur J Paediatr Neurol. 2020 Sep;28:29-37. doi: 10.1016/j.ejpn.2020.06.020. Epub 2020 Jul 28. Eur J Paediatr Neurol. 2020. PMID: 32807681 Review.

3

Schimke XLID syndrome results from a deletion in BCAP31.

Louie RJ, Collins DL, Friez MJ, Skinner C, Schwartz CE, Stevenson RE. Louie RJ, et al. Am J Med Genet A. 2020 Sep;182(9):2168-2174. doi: 10.1002/ajmg.a.61755. Epub 2020 Jul 18. Am J Med Genet A. 2020. PMID: 32681719

4

Expanding the phenotypic spectrum of Allan-Herndon-Dudley syndrome in patients with SLC16A2 mutations.

Remerand G, Boespflug-Tanguy O, Tonduti D, Touraine R, Rodriguez D, Curie A, Perreton N, Des Portes V, Sarret C; RMLX/AHDS Study Group. Remerand G, et al. Dev Med Child Neurol. 2019 Dec;61(12):1439-1447. doi: 10.1111/dmcn.14332. Epub 2019 Aug 13. Dev Med Child Neurol. 2019. PMID: 31410843 Free article.

5

Xanthine calculi in a patient with Lesch-Nyhan syndrome and factor V Leiden treated with allopurinol: case report.

Shields LBE, Peppas DS, Rosenberg E. Shields LBE, et al. BMC Pediatr. 2018 Jul 12;18(1):231. doi: 10.1186/s12887-018-1197-5. BMC Pediatr. 2018. PMID: 30001695 Free PMC article.

6

GM3 synthase deficiency due to ST3GAL5 variants in two Korean female siblings: Masquerading as Rett syndrome-like phenotype.

Lee JS, Yoo Y, Lim BC, Kim KJ, Song J, Choi M, Chae JH. Lee JS, et al. Am J Med Genet A. 2016 Aug;170(8):2200-5. doi: 10.1002/ajmg.a.37773. Epub 2016 May 27. Am J Med Genet A. 2016. PMID: 27232954

7

Nephrocalcinosis and Renal Failure in Lesch-Nyhan Syndrome: Report of Two Familial Cases and Review of the Literature.

Vargiami E, Printza N, Papadimiditriou E, Batzios S, Kyriazi M, Papachristou F, Zafeiriou DI. Vargiami E, et al. Urology. 2016 Nov;97:194-196. doi: 10.1016/j.urology.2016.04.004. Epub 2016 Apr 11. Urology. 2016. PMID: 27079129 Review.

8

AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome).

Cacciagli P, Desvignes JP, Girard N, Delepine M, Zelenika D, Lathrop M, Lévy N, Ledbetter DH, Dobyns WB, Villard L. Cacciagli P, et al. Eur J Hum Genet. 2014 Mar;22(3):363-8. doi: 10.1038/ejhg.2013.135. Epub 2013 Jun 12. Eur J Hum Genet. 2014. PMID: 23756445 Free PMC article.

9

A novel mutation in the HSD17B10 gene of a 10-year-old boy with refractory epilepsy, choreoathetosis and learning disability.

Seaver LH, He XY, Abe K, Cowan T, Enns GM, Sweetman L, Philipp M, Lee S, Malik M, Yang SY. Seaver LH, et al. PLoS One. 2011;6(11):e27348. doi: 10.1371/journal.pone.0027348. Epub 2011 Nov 22. PLoS One. 2011. PMID: 22132097 Free PMC article.

10

Hydroxysteroid (17β) dehydrogenase X in human health and disease.

Yang SY, He XY, Miller D. Yang SY, et al. Mol Cell Endocrinol. 2011 Aug 22;343(1-2):1-6. doi: 10.1016/j.mce.2011.06.011. Epub 2011 Jun 25. Mol Cell Endocrinol. 2011. PMID: 21708223 Review.

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