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Items: 1 to 20 of 791

1.

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
2.

[Clinical, biologic and molecular characteristics of two Tunisian MPS IV A patients].

Khedhiri S, Chkioua L, Ferchichi S, Bouzidi H, Haj Khelil A, Ben Mansour R, Kassab A, M'dallah S, Chaabouni M, Jrad T, Ben Chibani J, Miled A, Laradi S.

Ann Biol Clin (Paris). 2007 Jan-Feb;65(1):59-63. French.

3.

[Morquio A disease: clinical and molecular study of Tunisian patients].

Khedhiri S, Chkioua L, Ferchichi S, Miled A, Laradi S.

Ann Biol Clin (Paris). 2011 Jul-Aug;69(4):425-9. doi: 10.1684/abc.2011.0593. French.

5.

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.

6.

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
7.

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.

PMID:
10814710
8.

Molecular heterogeneity in mucopolysaccharidosis IVA in Australia and Northern Ireland: nine novel mutations including T312S, a common allele that confers a mild phenotype.

Yamada N, Fukuda S, Tomatsu S, Muller V, Hopwood JJ, Nelson J, Kato Z, Yamagishi A, Sukegawa K, Kondo N, Orii T.

Hum Mutat. 1998;11(3):202-8.

PMID:
9521421
9.

Molecular analysis in a GALNS study cohort of 15 Tunisian patients: description of a novel mutation.

Chkioua L, Khedhiri S, Hafsi H, Grissa O, Ben Turkia H, Miled A, Laradi S, Froissart R, Alif N.

Diagn Pathol. 2016 Jun 17;11(1):51. doi: 10.1186/s13000-016-0498-y.

10.

Mucopolysaccharidosis IVA within Tunisian patients: Confirmation of the two novel GALNS gene mutations.

Khedhiri S, Chkioua L, Bouzidi H, Dandana A, Ferchichi S, Ben Turkia H, Miled A, Laradi S.

Pathol Biol (Paris). 2012 Jun;60(3):190-2. doi: 10.1016/j.patbio.2011.03.001. Epub 2011 Nov 9.

PMID:
22078177
11.

[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
12.

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
13.

Mucopolysaccharidoses type I and IVA: clinical features and consanguinity in Tunisia.

Khedhiri S, Chkioua L, Bouzidi H, Dandana A, Ben Turkia H, Miled A, Laradi S.

Pathol Biol (Paris). 2009 Jul;57(5):392-7. doi: 10.1016/j.patbio.2008.05.005. Epub 2008 Jun 26.

PMID:
18584975
14.

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
15.

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.

Pathol Biol (Paris). 2014 Feb;62(1):38-40. doi: 10.1016/j.patbio.2013.10.001. Epub 2014 Jan 9.

PMID:
24411403
16.

Effect of 'attenuated' mutations in mucopolysaccharidosis IVA on molecular phenotypes of N-acetylgalactosamine-6-sulfate sulfatase.

Montaño AM, Sukegawa K, Kato Z, Carrozzo R, Di Natale P, Christensen E, Orii KO, Orii T, Kondo N, Tomatsu S.

J Inherit Metab Dis. 2007 Oct;30(5):758-67. Epub 2007 Sep 17.

PMID:
17876718
17.

[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
18.

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
19.

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
20.

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

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