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Items: 1 to 20 of 159

1.

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.

J Clin Invest. 1992 Sep;90(3):1049-53.

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.

Hum Mol Genet. 1995 Mar;4(3):341-9.

PMID:
7795586
3.

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.

4.

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
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.

Mucopolysaccharidosis IVA: a novel splice acceptor site mutation in intron 4 of the N-acetylgalactosamine-6-sulfate sulfatase gene in an Afghanistan girl with classical Morquio disease.

Fukuda S, Yamada N, Tomatsu S, Sukegawa K, Montaño AM, Hopwood JJ, Muller V, Orii T, Kondo N.

Jpn J Hum Genet. 1997 Jun;42(2):317-22.

PMID:
9290256
8.

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.

Am J Hum Genet. 1996 May;58(5):950-62.

9.

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
10.

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
11.

Identification of 31 novel mutations in the N-acetylgalactosamine-6-sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndrome.

Bunge S, Kleijer WJ, Tylki-Szymanska A, Steglich C, Beck M, Tomatsu S, Fukuda S, Poorthuis BJ, Czartoryska B, Orii T, Gal A.

Hum Mutat. 1997;10(3):223-32.

PMID:
9298823
12.

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
13.

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.

Hum Mutat. 1996;7(2):123-34.

PMID:
8829629
14.

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
15.

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
16.

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
17.

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
18.

Morquio disease: isolation, characterization and expression of full-length cDNA for human N-acetylgalactosamine-6-sulfate sulfatase.

Tomatsu S, Fukuda S, Masue M, Sukegawa K, Fukao T, Yamagishi A, Hori T, Iwata H, Ogawa T, Nakashima Y, et al.

Biochem Biophys Res Commun. 1991 Dec 16;181(2):677-83.

PMID:
1755850
19.

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
20.

Clinical, biochemical and molecular findings in a two-generation Morquio A family.

Tylki-Szymańska A, Czartoryska B, Bunge S, van Diggelen OP, Kleijer WJ, Poorthuis BJ, Huijmans JG, Górska D.

Clin Genet. 1998 May;53(5):369-74.

PMID:
9660054

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