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Items: 1 to 20 of 166

1.

[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.

Zhonghua Er Ke Za Zhi. 2013 Jun;51(6):414-9. Chinese.

PMID:
24120057
2.

Mucopolysaccharidosis IVA mutations in Chinese patients: 16 novel mutations.

Wang Z, Zhang W, Wang Y, Meng Y, Su L, Shi H, Huang S.

J Hum Genet. 2010 Aug;55(8):534-40. doi: 10.1038/jhg.2010.65. Epub 2010 Jun 24.

PMID:
20574428
3.

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.

Mol Genet Metab. 2006 Mar;87(3):213-8.

PMID:
16378744
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.

Am J Med Genet. 1996 Jun 28;63(4):558-65.

PMID:
8826435
5.

GALNS mutations in Indian patients with mucopolysaccharidosis IVA.

Bidchol AM, Dalal A, Shah H, S S, Nampoothiri S, Kabra M, Gupta N, Danda S, Gowrishankar K, Phadke SR, Kapoor S, Kamate M, Verma IC, Puri RD, Sankar VH, Devi AR, Patil SJ, Ranganath P, Jain SJ, Agarwal M, Singh A, Mishra P, Tamhankar PM, Gopinath PM, Nagarajaram HA, Satyamoorthy K, Girisha KM.

Am J Med Genet A. 2014 Nov;164A(11):2793-801. doi: 10.1002/ajmg.a.36735. Epub 2014 Sep 22.

PMID:
25252036
6.

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.

Am J Hum Genet. 1995 Sep;57(3):556-63.

7.

Molecular genetic assay of mucopolysaccharidosis IVA in South China.

He D, Huang Y, Ou Z, Sheng H, Li S, Zhao X, Li R, Zheng J, Liu L.

Gene. 2013 Dec 10;532(1):46-52. doi: 10.1016/j.gene.2013.08.097. Epub 2013 Sep 11.

PMID:
24035930
8.

Five novel mutations of GALNS in Korean patients with mucopolysaccharidosis IVA.

Park HD, Ko AR, Ki CS, Lee SY, Kim JW, Cho SY, Kim SH, Park SW, Sohn YB, Jin DK.

Am J Med Genet A. 2013 Mar;161A(3):509-17. doi: 10.1002/ajmg.a.35298. Epub 2013 Feb 8.

PMID:
23401410
9.

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.

Mol Genet Metab. 2014 Jun;112(2):160-70. doi: 10.1016/j.ymgme.2014.03.004. Epub 2014 Mar 20. Erratum in: Mol Genet Metab. 2014 Nov;113(3):237.

11.

Novel missense mutation in the GALNS gene in an affected patient with severe form of mucopolysaccharidosis type IVA.

Seyedhassani SM, Hashemi-Gorji F, Yavari M, Mirfakhraie R.

Clin Chim Acta. 2015 Oct 23;450:121-4. doi: 10.1016/j.cca.2015.08.006. Epub 2015 Aug 11.

PMID:
26276046
12.

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.

Mol Genet Metab. 2013 Sep-Oct;110(1-2):129-38. doi: 10.1016/j.ymgme.2013.06.008. Epub 2013 Jun 26.

13.

[Identification of a novel mutation of GALNS gene from a Chinese pedigree with mucopolysaccharidosis type IV A].

Zhao Y, Meng YX, Guo YB, Du ML, Ai Y.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2011 Jun;28(3):241-6. doi: 10.3760/cma.j.issn.1003-9406.2011.03.001. Chinese.

PMID:
21644215
14.

Biochemical and structural analysis of missense mutations in N-acetylgalactosamine-6-sulfate sulfatase causing mucopolysaccharidosis IVA phenotypes.

Sukegawa K, Nakamura H, Kato Z, Tomatsu S, Montaño AM, Fukao T, Toietta G, Tortora P, Orii T, Kondo N.

Hum Mol Genet. 2000 May 22;9(9):1283-90.

15.

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.

Hum Mutat. 2005 Dec;26(6):500-12.

PMID:
16287098
16.

Fourteen novel mucopolysaccharidosis IVA producing mutations in GALNS gene.

Tomatsu S, Fukuda S, Cooper A, Wraith JE, Ferreira P, Di Natale P, Tortora P, Fujimoto A, Kato Z, Yamada N, Isogai K, Yamagishi A, Sukegawa K, Suzuki Y, Shimozawa N, Kondo N, Sly WS, Orii T.

Hum Mutat. 1997;10(5):368-75.

PMID:
9375852
17.

A novel common missense mutation G301C in the N-acetylgalactosamine-6-sulfate sulfatase gene in mucopolysaccharidosis IVA.

Kato Z, Fukuda S, Tomatsu S, Vega H, Yasunaga T, Yamagishi A, Yamada N, Valencia A, Barrera LA, Sukegawa K, Orii T, Kondo N.

Hum Genet. 1997 Nov;101(1):97-101.

PMID:
9385378
18.

Mucopolysaccharidosis IVA (Morquio A): identification of novel common mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene in Italian patients.

Tomatsu S, Filocamo M, Orii KO, Sly WS, Gutierrez MA, Nishioka T, Serrato OP, Di Natale P, Montaño AM, Yamaguchi S, Kondo N, Orii T, Noguchi A.

Hum Mutat. 2004 Aug;24(2):187-8.

PMID:
15241807
19.

[GLB1 gene mutation and clinical characteristics of a patient with mucopolysaccharidosis type IVB].

Lei HL, Ye J, Qiu WJ, Zhang HW, Han LS, Gu XF.

Zhonghua Er Ke Za Zhi. 2012 Jul;50(7):549-53. Chinese.

PMID:
22932019
20.

Murine model (Galns(tm(C76S)slu)) of MPS IVA with missense mutation at the active site cysteine conserved among sulfatase proteins.

Tomatsu S, Vogler C, Montaño AM, Gutierrez M, Oikawa H, Dung VC, Orii T, Noguchi A, Sly WS.

Mol Genet Metab. 2007 Jul;91(3):251-8. Epub 2007 May 10.

PMID:
17498992
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