Similar articles for PMID: 8651279

Year	Number of Results
1982	2
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1996	8
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1

Mucopolysaccharidosis IVA: four new exonic mutations in patients with N-acetylgalactosamine-6-sulfate sulfatase deficiency.

Tomatsu S, Fukuda S, Yamagishi A, Cooper A, Wraith JF, Hori T, Kato Z, Yamada N, Isogai K, Sukegawa K, Kondo N, Suzuki Y, Shimozawa N, Orii T. Tomatsu S, et al. Am J Hum Genet. 1996 May;58(5):950-62. Am J Hum Genet. 1996. PMID: 8651279 Free PMC article.

2

Mucopolysaccharidosis IVA: screening and identification of mutations of the N-acetylgalactosamine-6-sulfate sulfatase gene.

Ogawa T, Tomatsu S, Fukuda S, Yamagishi A, Rezvi GM, Sukegawa K, Kondo N, Suzuki Y, Shimozawa N, Orü T. Ogawa T, et al. Hum Mol Genet. 1995 Mar;4(3):341-9. doi: 10.1093/hmg/4.3.341. Hum Mol Genet. 1995. PMID: 7795586

3

Mucopolysaccharidosis IVA: submicroscopic deletion of 16q24.3 and a novel R386C mutation of N-acetylgalactosamine-6-sulfate sulfatase gene in a classical Morquio disease.

Fukuda S, Tomatsu S, Masuno M, Ogawa T, Yamagishi A, Rezvi GM, Sukegawa K, Shimozawa N, Suzuki Y, Kondo N, Imaizumi K, Kuroki Y, Okabe T, Orii T. Fukuda S, et al. Hum Mutat. 1996;7(2):123-34. doi: 10.1002/(SICI)1098-1004(1996)7:2<123::AID-HUMU6>3.0.CO;2-D. Hum Mutat. 1996. PMID: 8829629

4

[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.

5

Mucopolysaccharidosis type IV: N-acetylgalactosamine-6-sulfatase mutations in Tunisian patients.

Laradi S, Tukel T, Khediri S, Shabbeer J, Erazo M, Chkioua L, Chaabouni M, Ferchichi S, Miled A, Desnick RJ. Laradi S, et al. Mol Genet Metab. 2006 Mar;87(3):213-8. doi: 10.1016/j.ymgme.2005.11.001. Mol Genet Metab. 2006. PMID: 16378744

6

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

7

Mucopolysaccharidosis IVA: identification of a common missense mutation I113F in the N-Acetylgalactosamine-6-sulfate sulfatase gene.

Tomatsu S, Fukuda S, Cooper A, Wraith JE, Rezvi GM, Yamagishi A, Yamada N, Kato Z, Isogai K, Sukegawa K, et al. Tomatsu S, et al. Am J Hum Genet. 1995 Sep;57(3):556-63. Am J Hum Genet. 1995. PMID: 7668283 Free PMC article.

8

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

9

Mutations and polymorphisms in N-acetylgalactosamine-6-sulfate sulfatase gene in Turkish Morquio A patients.

Khedhiri S, Chkioua L, Elcioglu N, Laradi S, Miled A. Khedhiri S, et al. Pathol Biol (Paris). 2014 Feb;62(1):38-40. doi: 10.1016/j.patbio.2013.10.001. Epub 2014 Jan 9. Pathol Biol (Paris). 2014. PMID: 24411403

10

Mucopolysaccharidosis type IVA. N-acetylgalactosamine-6-sulfate sulfatase exonic point mutations in classical Morquio and mild cases.

Fukuda S, Tomatsu S, Masue M, Sukegawa K, Iwata H, Ogawa T, Nakashima Y, Hori T, Yamagishi A, Hanyu Y, et al. Fukuda S, et al. J Clin Invest. 1992 Sep;90(3):1049-53. doi: 10.1172/JCI115919. J Clin Invest. 1992. PMID: 1522213 Free PMC article.

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