Similar articles for PMID: 1301949

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1

An N-acetylgalactosamine-4-sulfatase mutation (delta G238) results in a severe Maroteaux-Lamy phenotype.

Litjens T, Morris CP, Robertson EF, Peters C, von Figura K, Hopwood JJ. Litjens T, et al. Hum Mutat. 1992;1(5):397-402. doi: 10.1002/humu.1380010509. Hum Mutat. 1992. PMID: 1301949

2

[A novel nonsense point mutation in the arylsulfatase B gene with a severe type Maroteaux-Lamy syndrome].

Xu M. Xu M. Hokkaido Igaku Zasshi. 1996 May;71(3):359-67. Hokkaido Igaku Zasshi. 1996. PMID: 8752530 Japanese.

3

Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): six unique arylsulfatase B gene alleles causing variable disease phenotypes.

Isbrandt D, Arlt G, Brooks DA, Hopwood JJ, von Figura K, Peters C. Isbrandt D, et al. Am J Hum Genet. 1994 Mar;54(3):454-63. Am J Hum Genet. 1994. PMID: 8116615 Free PMC article.

4

Four novel mutant alleles of the arylsulfatase B gene in two patients with intermediate form of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome).

Voskoboeva E, Isbrandt D, von Figura K, Krasnopolskaya X, Peters C. Voskoboeva E, et al. Hum Genet. 1994 Mar;93(3):259-64. doi: 10.1007/BF00212019. Hum Genet. 1994. PMID: 8125475

5

Juvenile form of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). A C-terminal extension causes instability but increases catalytic efficiency of arylsulfatase B.

Arlt G, Brooks DA, Isbrandt D, Hopwood JJ, Bielicki J, Bradford TM, Bindloss-Petherbridge CA, von Figura K, Peters C. Arlt G, et al. J Biol Chem. 1994 Apr 1;269(13):9638-43. J Biol Chem. 1994. PMID: 8144552 Free article.

6

Identification, expression, and biochemical characterization of N-acetylgalactosamine-4-sulfatase mutations and relationship with clinical phenotype in MPS-VI patients.

Litjens T, Brooks DA, Peters C, Gibson GJ, Hopwood JJ. Litjens T, et al. Am J Hum Genet. 1996 Jun;58(6):1127-34. Am J Hum Genet. 1996. PMID: 8651289 Free PMC article.

7

Mucopolysaccharidosis type VI in rats: isolation of cDNAs encoding arylsulfatase B, chromosomal localization of the gene, and identification of the mutation.

Kunieda T, Simonaro CM, Yoshida M, Ikadai H, Levan G, Desnick RJ, Schuchman EH. Kunieda T, et al. Genomics. 1995 Oct 10;29(3):582-7. doi: 10.1006/geno.1995.9962. Genomics. 1995. PMID: 8575749

8

Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). An intermediate clinical phenotype caused by substitution of valine for glycine at position 137 of arylsulfatase B.

Wicker G, Prill V, Brooks D, Gibson G, Hopwood J, von Figura K, Peters C. Wicker G, et al. J Biol Chem. 1991 Nov 15;266(32):21386-91. J Biol Chem. 1991. PMID: 1718978 Free article.

9

Identification of the molecular defects in Spanish and Argentinian mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) patients, including 9 novel mutations.

Garrido E, Chabás A, Coll MJ, Blanco M, Domínguez C, Grinberg D, Vilageliu L, Cormand B. Garrido E, et al. Mol Genet Metab. 2007 Sep-Oct;92(1-2):122-30. doi: 10.1016/j.ymgme.2007.06.002. Epub 2007 Jul 20. Mol Genet Metab. 2007. PMID: 17643332

10

Mutational analysis of 105 mucopolysaccharidosis type VI patients.

Karageorgos L, Brooks DA, Pollard A, Melville EL, Hein LK, Clements PR, Ketteridge D, Swiedler SJ, Beck M, Giugliani R, Harmatz P, Wraith JE, Guffon N, Leão Teles E, Sá Miranda MC, Hopwood JJ. Karageorgos L, et al. Hum Mutat. 2007 Sep;28(9):897-903. doi: 10.1002/humu.20534. Hum Mutat. 2007. PMID: 17458871

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