| 1 | ARSB, MPS6
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| Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) with a predominantly cardiac phenotype.
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| Jurecka A, Golda A, Opoka-Winiarska V, Piotrowska E, Tylki-Szymańska A.
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| Mol Genet Metab 104(4):695-9. doi: 10.1016/j.ymgme.2011.08.024. Epub 2011 Aug 27.
2011
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| 2 | ARSB, MPS6
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| Maroteaux-Lamy syndrome: functional characterization of pathogenic mutations and polymorphisms in the arylsulfatase B gene.
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| Garrido E, Cormand B, Hopwood JJ, Chab‡s A, Grinberg D, Vilageliu L.
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| Mol Genet Metab 94(3):305-12. Epub 2008 Apr 10. 2008
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| 3 | MPS6
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| Identification of the molecular defects in Spanish and Argentinian mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) patients, including 9 novel mutations.
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| Garrido E, Chabas A, Coll MJ, Blanco M, Dominguez C, Grinberg D, Vilageliu L, Cormand B.
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| Mol Genet Metab 92(1-2):122-130. Epub 2007 Jul 20. 2007
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| 4 | ARSB, MPS6
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| Identification of the molecular defects in Spanish and Argentinian mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) patients, including 9 novel mutations.
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| Garrido E, Chabás A, Coll MJ, Blanco M, Domínguez C, Grinberg D, Vilageliu L, Cormand B.
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| Mol Genet Metab 92(1-2):122-30. Epub 2007 Jul 20.
2007
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| 5 | ARSB, MPS6
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| Mutational analysis of 105 mucopolysaccharidosis type VI patients.
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| 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.
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| Hum Mutat 28(9):897-903.
2007
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| 6 | ARSB, MPS6
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| Mucopolysaccharidosis type VI: Identification of novel mutations on the arylsulphatase B gene in South American patients.
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| Petry MF, Nonemacher K, Sebben JC, Schwartz IV, Azevedo AC, Burin MG, de Rezende AR, Kim CA, Giugliani R, Leistner-Segal S.
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| J Inherit Metab Dis 28(6):1027-34. 2005
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| 7 | ARSB, MPS6
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| Clinical and biochemical study of 28 patients with mucopolysaccharidosis type VI.
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| Azevedo AC, Schwartz IV, Kalakun L, Brustolin S, Burin MG, Beheregaray AP, Leistner S, Giugliani C, Rosa M, Barrios P, Marinho D, Esteves P, Valadares E, Boy R, Horovitz D, Mabe P, da Silva LC, de Souza IC, Ribeiro M, Martins AM, Palhares D, Kim CA, Giugliani R.
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| Clin Genet 66(3):208-13.
2004
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| 8 | MPS6, ARSB
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| Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): a Y210C mutation causes either altered protein handling or altered protein function of N-acetylgalactosamine 4-sulfatase at multiple points in the vacuolar network.
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| Bradford TM, Litjens T, Parkinson EJ, Hopwood JJ, Brooks DA.
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| Biochemistry 41(15):4962-71. 2002
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| 9 | ARSB, MPS6
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| Mucopolysaccharidosis type VI: Structural and clinical implications of mutations in N-acetylgalactosamine-4-sulfatase.
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| Litjens T, Hopwood JJ.
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| Hum Mutat 18(4):282-95. 2001
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| 10 | MPS6, ARSB
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| Maroteaux-lamy syndrome: five novel mutations and their structural localization.
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| Villani GR, et al.
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| Biochim Biophys Acta 1453(2):185-92. 1999
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| 11 | ARSB, MPS6
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| Two novel frameshift mutations causing premature stop codons in a patient with the severe form of Matoreaux-Lamy syndrome.
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| Isbrandt D, et al.
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| Hum Mutat 7 : 361-363. 1996
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| 12 | ARSB, MPS6
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| N-acetylgalactosamine-4-sulfatase : identification of four new mutations within the conserved sulfatase region causing mucopolysaccharidosis type VI.
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| Simonaro CM, et al.
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| Biochim Biophys Acta 1272 : 129-132. 1995
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| 13 | MPS6, ARSB
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| Four novel mutant alleles of the arylsulfatase B gene in two patients with intermediate form of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome).
|
| Voskoboeva E, et al.
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| Hum Genet 93 : 259-264. 1994
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| 14 | MPS6, ARSB
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| Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) : six unique arylsulfatase B gene alleles causing variable disease phenotypes.
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| Isbrandt D, et al.
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| Am J Hum Genet 54 : 454-463. 1994
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| 15 | MPS6, ARSB
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| Juvenile form of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome).
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| Arlt G, et al.
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| J Biol Chem 269 : 9638-9643. 1994
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| 16 | ARSB, MPS6
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| Mucopolysaccharidosis type VI : identification of three mutations in the arylsulfatase B gene of patients with the severe and mild phenotypes provides molecular evidence for genetic heterogeneity.
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| Jin WD, et al.
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| Am J Hum Genet 50 : 795-800. 1992
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| 17 | ARSB, MPS6
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| Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). An intermediate clinical phenotype caused by substitution of valine for glycine at position 137 of arylsulfatase B.
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| Wicker G, et al.
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| J Biol Chem 266 : 21386-21391. 1991
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| 18 | ARSB, MPS6
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| Une nouvelle dysostose avec Žlimination urinaire de chondro•tine-sulfate B.
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| Maroteaux P, et al.
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| Presse Med 71 : 1849-1852. 1963
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