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Items: 1 to 20 of 103

1.

Mucopolysaccharidosis I: Alpha-L-Iduronidase mutations in three Tunisian families.

Laradi S, Tukel T, Erazo M, Shabbeer J, Chkioua L, Khedhiri S, Ferchichi S, Chaabouni M, Miled A, Desnick RJ.

J Inherit Metab Dis. 2005;28(6):1019-26.

PMID:
16435195
2.

Mucopolysaccharidosis type I: molecular characteristics of two novel alpha-L-iduronidase mutations in Tunisian patients.

Chkioua L, Khedhiri S, Turkia HB, Tcheng R, Froissart R, Chahed H, Ferchichi S, Ben Dridi MF, Vianey-Saban C, Laradi S, Miled A.

Diagn Pathol. 2011 Jun 3;6:47. doi: 10.1186/1746-1596-6-47.

3.

[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
4.

Molecular analysis of mucopolysaccharidosis type I in Tunisia: identification of novel mutation and eight Novel polymorphisms.

Chkioua L, Khedhiri S, Kassab A, Bibi A, Ferchichi S, Froissart R, Vianey-Saban C, Laradi S, Miled A.

Diagn Pathol. 2011 Apr 26;6:39. doi: 10.1186/1746-1596-6-39.

5.

Hurler disease (mucopolysaccharidosis type IH): clinical features and consanguinity in Tunisian population.

Chkioua L, Khedhiri S, Ben Turkia H, Chahed H, Ferchichi S, Ben Dridi MF, Laradi S, Miled A.

Diagn Pathol. 2011 Nov 10;6:113. doi: 10.1186/1746-1596-6-113.

6.

Mutational Analysis of the alpha-L-iduronidase gene in three Egyptian families: identification of three novel mutations and five novel polymorphisms.

Amr K, Katoury A, Abdel-Hamid M, Bassiouni R, Ibrahim M, Fateen E.

Genet Test Mol Biomarkers. 2009 Dec;13(6):761-4. doi: 10.1089/gtmb.2009.0057.

PMID:
19839758
7.
8.

Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations.

Beesley CE, Meaney CA, Greenland G, Adams V, Vellodi A, Young EP, Winchester BG.

Hum Genet. 2001 Nov;109(5):503-11. Epub 2001 Oct 19.

PMID:
11735025
9.

Identification and molecular characterization of alpha-L-iduronidase mutations present in mucopolysaccharidosis type I patients undergoing enzyme replacement therapy.

Yogalingam G, Guo XH, Muller VJ, Brooks DA, Clements PR, Kakkis ED, Hopwood JJ.

Hum Mutat. 2004 Sep;24(3):199-207.

PMID:
15300847
10.

Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications.

Scott HS, Bunge S, Gal A, Clarke LA, Morris CP, Hopwood JJ.

Hum Mutat. 1995;6(4):288-302. Review.

PMID:
8680403
11.

Identification of mutations in the alpha-L-iduronidase gene (IDUA) that cause Hurler and Scheie syndromes.

Scott HS, Litjens T, Nelson PV, Thompson PR, Brooks DA, Hopwood JJ, Morris CP.

Am J Hum Genet. 1993 Nov;53(5):973-86.

12.

Neurocognitive and neuropsychiatric phenotypes associated with the mutation L238Q of the α-L-iduronidase gene in Hurler-Scheie syndrome.

Ahmed A, Whitley CB, Cooksley R, Rudser K, Cagle S, Ali N, Delaney K, Yund B, Shapiro E.

Mol Genet Metab. 2014 Feb;111(2):123-7. doi: 10.1016/j.ymgme.2013.11.014. Epub 2013 Dec 12.

13.

Four novel mutations underlying mild or intermediate forms of alpha-L-iduronidase deficiency (MPS IS and MPS IH/S).

Tieu PT, Bach G, Matynia A, Hwang M, Neufeld EF.

Hum Mutat. 1995;6(1):55-9.

PMID:
7550232
14.

A novel mucopolysaccharidosis type I associated splice site mutation and IDUA splice variants.

Bremer S, Ohlsson A, Brodtkorb E, Rootwelt H, Rootwelt T, Woldseth B, Mørkrid L.

Mol Genet Metab. 2011 Nov;104(3):289-94. doi: 10.1016/j.ymgme.2011.07.012. Epub 2011 Jul 20.

PMID:
21831683
15.

Mucopolysaccharidosis type I: Identification and characterization of mutations affecting alpha-L-iduronidase activity.

Lee-Chen GJ, Lin SP, Chen IS, Chang JH, Yang CW, Chin YW.

J Formos Med Assoc. 2002 Jun;101(6):425-8.

PMID:
12189649
16.

[Mutation analysis and prenatal diagnosis of 2 cases with mucopolysaccharidosis type I].

Wang XN, Wei M, Shi HP, Qiu ZQ, Yao FX, Meng Y, Zhang WM.

Zhonghua Er Ke Za Zhi. 2011 Apr;49(4):306-10. Chinese.

PMID:
21624210
17.

Residual α-L-iduronidase activity in fibroblasts of mild to severe Mucopolysaccharidosis type I patients.

Oussoren E, Keulemans J, van Diggelen OP, Oemardien LF, Timmermans RG, van der Ploeg AT, Ruijter GJ.

Mol Genet Metab. 2013 Aug;109(4):377-81. doi: 10.1016/j.ymgme.2013.05.016. Epub 2013 Jun 4.

PMID:
23786846
18.

[IDUA gene mutation analysis and prenatal diagnosis of two families affected with mucopolysaccharidosis type I].

Yang X, Mei S, Kong X, Zhao Z, Cai A, Yao J, Li Y, Qin Z.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Jun 10;34(3):347-351. doi: 10.3760/cma.j.issn.1003-9406.2017.03.007. Chinese.

PMID:
28604952
19.

alpha-L-iduronidase mutations (Q70X and P533R) associate with a severe Hurler phenotype.

Scott HS, Litjens T, Nelson PV, Brooks DA, Hopwood JJ, Morris CP.

Hum Mutat. 1992;1(4):333-9.

PMID:
1301941
20.

Mucopolysaccharidosis type I: identification of common mutations that cause Hurler and Scheie syndromes in Japanese populations.

Yamagishi A, Tomatsu S, Fukuda S, Uchiyama A, Shimozawa N, Suzuki Y, Kondo N, Sukegawa K, Orii T.

Hum Mutat. 1996;7(1):23-9.

PMID:
8664897

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