Similar articles for PMID: 24726177

Year	Number of Results
1992	1
1994	1
1995	5
1996	4
1997	4
1998	3
1999	1
2000	1
2001	1
2002	2
2003	2
2004	2
2005	2
2006	3
2007	8
2008	4
2009	2
2010	3
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2012	6
2013	9
2014	18
2015	8
2016	5
2017	6
2018	6
2019	10
2020	7
2021	15
2022	22
2023	5
2024	0

1

Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations.

Morrone A, Tylee KL, Al-Sayed M, Brusius-Facchin AC, Caciotti A, Church HJ, Coll MJ, Davidson K, Fietz MJ, Gort L, Hegde M, Kubaski F, Lacerda L, Laranjeira F, Leistner-Segal S, Mooney S, Pajares S, Pollard L, Ribeiro I, Wang RY, Miller N. Morrone A, et al. Mol Genet Metab. 2014 Jun;112(2):160-70. doi: 10.1016/j.ymgme.2014.03.004. Epub 2014 Mar 20. Mol Genet Metab. 2014. PMID: 24726177 Free PMC article.

2

Four novel mutations in the N-acetylgalactosamine-6-sulfate sulfatase gene among Egyptian patients with Morquio A disease.

Fateen EM, El Mawgoud HA, Eissa NR, Ibrahim MM, Aglan MS, Essawi ML. Fateen EM, et al. Gene. 2017 Feb 5;600:48-54. doi: 10.1016/j.gene.2016.11.002. Epub 2016 Nov 5. Gene. 2017. PMID: 27825773

3

Molecular analysis of Turkish mucopolysaccharidosis IVA (Morquio A) patients: identification of novel mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene.

Terzioglu M, Tokatli A, Coskun T, Emre S. Terzioglu M, et al. Hum Mutat. 2002 Dec;20(6):477-8. doi: 10.1002/humu.9088. Hum Mutat. 2002. PMID: 12442278

4

Heteroallelic missense mutations of the galactosamine-6-sulfate sulfatase (GALNS) gene in a mild form of Morquio disease (MPS IVA).

Cole DE, Fukuda S, Gordon BA, Rip JW, LeCouteur AN, Rupar CA, Tomatsu S, Ogawa T, Sukegawa K, Orii T. Cole DE, et al. Am J Med Genet. 1996 Jun 28;63(4):558-65. doi: 10.1002/(SICI)1096-8628(19960628)63:4<558::AID-AJMG9>3.0.CO;2-K. Am J Med Genet. 1996. PMID: 8826435

5

Review of clinical presentation and diagnosis of mucopolysaccharidosis IVA.

Hendriksz CJ, Harmatz P, Beck M, Jones S, Wood T, Lachman R, Gravance CG, Orii T, Tomatsu S. Hendriksz CJ, et al. Mol Genet Metab. 2013 Sep-Oct;110(1-2):54-64. doi: 10.1016/j.ymgme.2013.04.002. Epub 2013 Apr 10. Mol Genet Metab. 2013. PMID: 23665161 Free PMC article. Review.

6

[Analysis of GALNS gene mutation in thirty-eight Chinese patients with mucopolysaccharidosis type IVA].

Ye J, Lei HL, Zhang HW, Qiu WJ, Han LS, Wang Y, Li XY, Gu XF. Ye J, et al. Zhonghua Er Ke Za Zhi. 2013 Jun;51(6):414-9. Zhonghua Er Ke Za Zhi. 2013. PMID: 24120057 Chinese.

7

Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A).

Tomatsu S, Montaño AM, Nishioka T, Gutierrez MA, Peña OM, Tranda Firescu GG, Lopez P, Yamaguchi S, Noguchi A, Orii T. Tomatsu S, et al. Hum Mutat. 2005 Dec;26(6):500-12. doi: 10.1002/humu.20257. Hum Mutat. 2005. PMID: 16287098

8

Mucopolysaccharidosis IVA: correlation between genotype, phenotype and keratan sulfate levels.

Dũng VC, Tomatsu S, Montaño AM, Gottesman G, Bober MB, Mackenzie W, Maeda M, Mitchell GA, Suzuki Y, Orii T. Dũng VC, et al. Mol Genet Metab. 2013 Sep-Oct;110(1-2):129-38. doi: 10.1016/j.ymgme.2013.06.008. Epub 2013 Jun 26. Mol Genet Metab. 2013. PMID: 23876334 Free PMC article.

9

Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease.

Caciotti A, Tonin R, Mort M, Cooper DN, Gasperini S, Rigoldi M, Parini R, Deodato F, Taurisano R, Sibilio M, Parenti G, Guerrini R, Morrone A. Caciotti A, et al. BMC Med Genet. 2018 Oct 11;19(1):183. doi: 10.1186/s12881-018-0694-6. BMC Med Genet. 2018. PMID: 30305043 Free PMC article.

10

Morquio A syndrome-associated mutations: a review of alterations in the GALNS gene and a new locus-specific database.

Morrone A, Caciotti A, Atwood R, Davidson K, Du C, Francis-Lyon P, Harmatz P, Mealiffe M, Mooney S, Oron TR, Ryles A, Zawadzki KA, Miller N. Morrone A, et al. Hum Mutat. 2014 Nov;35(11):1271-9. doi: 10.1002/humu.22635. Epub 2014 Sep 17. Hum Mutat. 2014. PMID: 25137622 Free PMC article. Review.

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