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Items: 1 to 20 of 189

1.

[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.

2.

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
3.

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
4.

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
5.

[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.

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.

Polymorphisms in Tunisian patients with N-acetylgalactosamine-6-sulfate sulfatase gene deficiency: implication in Morquio A disease.

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

Diagn Pathol. 2011 Jan 20;6:11. doi: 10.1186/1746-1596-6-11.

9.

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
10.

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.

11.

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.

12.

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.

Gene. 2017 Feb 5;600:48-54. doi: 10.1016/j.gene.2016.11.002. Epub 2016 Nov 5.

PMID:
27825773
13.

[Mucopolysaccharidosis IVA (Morquio A syndrome): clinical, biological and therapeutic aspects].

Bouzidi H, Khedhiri S, Laradi S, Ferchichi S, Daudon M, Miled A.

Ann Biol Clin (Paris). 2007 Jan-Feb;65(1):5-11. Review. French.

14.

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
15.

[Mucopolysaccharidosis type I: identification of alpha-L-iduronidase mutations in Tunisian families].

Chkioua L, Khedhiri S, Jaidane Z, Ferchichi S, Habib S, Froissart R, Bonnet V, Chaabouni M, Dandana A, Jrad T, Limem H, Maire I, Abdelhedi M, Laradi S.

Arch Pediatr. 2007 Oct;14(10):1183-9. Epub 2007 Aug 28. French.

PMID:
17728118
16.

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
17.

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
18.

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
19.

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.

Mol Genet Metab. 2013 Sep-Oct;110(1-2):54-64. doi: 10.1016/j.ymgme.2013.04.002. Epub 2013 Apr 10. Review.

20.

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

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