PubMed for id: 2588

Year	Number of Results
1974	1
1983	1
1991	3
1992	1
1993	3
1994	2
1995	5
1996	4
1997	2
1998	2
2000	1
2001	1
2002	2
2003	2
2004	4
2005	3
2006	2
2007	2
2008	2
2009	2
2010	2
2011	3
2012	2
2013	7
2014	4
2015	4
2016	3
2017	3
2018	2
2019	3
2020	1
2021	7
2022	4
2023	1
2024	0

1

Exome Sequencing Identifies a Biallelic GALNS Variant (p.Asp233Asn) Causing Mucopolysaccharidosis Type IVA in a Pakistani Consanguineous Family.

Ghafoor S, Silveira KDC, Qamar R, Azam M, Kannu P. Ghafoor S, et al. Genes (Basel). 2022 Sep 27;13(10):1743. doi: 10.3390/genes13101743. Genes (Basel). 2022. PMID: 36292628 Free PMC article.

2

The GALNS p.P77R variant is a probable Gujarati-Indian founder mutation causing Mucopolysaccharidosis IVA syndrome.

Sheth H, Naik P, Shah M, Bhavsar R, Nair A, Sheth F, Sheth J. Sheth H, et al. BMC Genomics. 2022 Jun 21;23(1):458. doi: 10.1186/s12864-022-08693-4. BMC Genomics. 2022. PMID: 35729508 Free PMC article.

3

Investigation of GALNS variants and genotype-phenotype correlations in a large cohort of patients with mucopolysaccharidosis type IVA.

Yi M, Wang Y, Gao X, Han L, Qiu W, Gu X, Maegawa GHB, Zhang H. Yi M, et al. J Inherit Metab Dis. 2022 May;45(3):593-604. doi: 10.1002/jimd.12491. Epub 2022 Mar 7. J Inherit Metab Dis. 2022. PMID: 35212421

4

The youngest pair of siblings with Mucopolysaccharidosis type IVA to receive enzyme replacement therapy to date: A case report.

Frigeni M, Rodriguez-Buritica DF, Saavedra H, Gunther KA, Hillman PR, Balaguru D, Northrup H. Frigeni M, et al. Am J Med Genet A. 2021 Nov;185(11):3510-3516. doi: 10.1002/ajmg.a.62469. Epub 2021 Sep 2. Am J Med Genet A. 2021. PMID: 34472180

5

Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants.

Zanetti A, D'Avanzo F, AlSayed M, Brusius-Facchin AC, Chien YH, Giugliani R, Izzo E, Kasper DC, Lin HY, Lin SP, Pollard L, Singh A, Tonin R, Wood T, Morrone A, Tomanin R. Zanetti A, et al. Hum Mutat. 2021 Nov;42(11):1384-1398. doi: 10.1002/humu.24270. Epub 2021 Aug 23. Hum Mutat. 2021. PMID: 34387910 Free PMC article. Review.

6

Demographic, clinical, and ancestry characterization of a large cluster of mucopolysaccharidosis IV A in the Brazilian Northeast region.

Dos Santos-Lopes SS, de Oliveira JMF, de Queiroga Nascimento D, Montenegro YHA, Leistner-Segal S, Brusius-Facchin AC, Eufrazino Gondim C, Giugliani R, de Medeiros PFV. Dos Santos-Lopes SS, et al. Am J Med Genet A. 2021 Oct;185(10):2929-2940. doi: 10.1002/ajmg.a.62375. Epub 2021 Jun 2. Am J Med Genet A. 2021. PMID: 34076347

7

Long-term outcomes of patients with mucopolysaccharidosis VI treated with galsulfase enzyme replacement therapy since infancy.

Garcia P, Phillips D, Johnson J, Martin K, Randolph LM, Rosenfeld H, Harmatz P. Garcia P, et al. Mol Genet Metab. 2021 May;133(1):100-108. doi: 10.1016/j.ymgme.2021.03.006. Epub 2021 Mar 14. Mol Genet Metab. 2021. PMID: 33775523 Free article.

8

Natural history of the oldest known females with mucopolysaccharidosis type IVA (Morquio A syndrome).

Peretz RH, Flora CH, Adams DJ. Peretz RH, et al. Am J Med Genet A. 2020 Jun;182(6):1491-1495. doi: 10.1002/ajmg.a.61566. Epub 2020 Mar 26. Am J Med Genet A. 2020. PMID: 32216080

9

Mutation spectrum and pivotal features for differential diagnosis of Mucopolysaccharidosis IVA patients with severe and attenuated phenotype.

Tüysüz B, Alkaya DU, Toksoy G, Güneş N, Yıldırım T, Bayhan İA, Uyguner ZO. Tüysüz B, et al. Gene. 2019 Jul 1;704:59-67. doi: 10.1016/j.gene.2019.04.026. Epub 2019 Apr 11. Gene. 2019. PMID: 30980944

10

Novel data on growth phenotype and causative genotypes in 29 patients with Morquio (Morquio-Brailsford) syndrome from Central-Eastern Europe.

Jezela-Stanek A, Różdżyńska-Świątkowska A, Kulpanovich A, Ciara E, Marucha J, Tylki-Szymańska A. Jezela-Stanek A, et al. J Appl Genet. 2019 May;60(2):163-174. doi: 10.1007/s13353-019-00491-1. Epub 2019 Mar 30. J Appl Genet. 2019. PMID: 30927141 Free PMC article.

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