These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

195 related articles for article (PubMed ID: 2114091)

  • 21. 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
    Hum Mutat; 1992; 1(5):397-402. PubMed ID: 1301949
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Arylsulfatase B deficiency in Maroteaux-Lamy syndrome: Cellular studies and carrier identification.
    Beratis NG; Turner BM; Weiss R; Hirschhorn K
    Pediatr Res; 1975 May; 9(5):475-80. PubMed ID: 806052
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Prenatal diagnosis of Maroteaux-Lamy syndrome.
    Van Dyke DL; Fluharty AL; Schafer IA; Shapiro LJ; Kihara H; Weiss L
    Am J Med Genet; 1981; 8(2):235-42. PubMed ID: 6792921
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Mucopolysaccharidosis type VI: Identification of novel mutations on the arylsulphatase B gene in South American patients.
    Petry MF; Nonemacher K; Sebben JC; Schwartz IV; Azevedo AC; Burin MG; de Rezende AR; Kim CA; Giugliani R; Leistner-Segal S
    J Inherit Metab Dis; 2005; 28(6):1027-34. PubMed ID: 16435196
    [TBL] [Abstract][Full Text] [Related]  

  • 25. 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
    Am J Hum Genet; 1994 Mar; 54(3):454-63. PubMed ID: 8116615
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Postnatal and prenatal diagnosis of Maroteaux-Lamy syndrome.
    Rogoyski A; Czartoryska B; Kleijer WJ; Niermeijer MF; Tronowska TD; Gorska D; Polatynska-Krzyspiak B; Zaremba J
    Acta Anthropogenet; 1985; 9(1-3):109-16. PubMed ID: 3939668
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Deficiency of arylsulfatase B in 2 brothers aged 40 and 38 years (Maroteaux-Lamy syndrome, type B).
    Pilz H; von Figura K; Goebel HH
    Ann Neurol; 1979 Oct; 6(4):315-25. PubMed ID: 122048
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Functional characterization of arylsulfatase B mutations in Indian patients with Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI).
    Uttarilli A; Pasumarthi D; Ranganath P; Dalal AB
    Gene; 2017 Jan; 599():19-27. PubMed ID: 27826022
    [TBL] [Abstract][Full Text] [Related]  

  • 29. [Analysis of clinical features and arylsulfatase B gene mutation in thirteen Chinese children with mucopolysaccharidosis type VI].
    Zheng J; Huang Y; Zhao X; Sheng H; Cheng J; Zhou Z; Li X; Mao X; Liu L
    Zhonghua Er Ke Za Zhi; 2014 Jun; 52(6):403-8. PubMed ID: 25190157
    [TBL] [Abstract][Full Text] [Related]  

  • 30. N-acetylglucosamine 6-sulphatase deficiency in a Nubian goat: a model of Sanfilippo syndrome type D (mucopolysaccharidosis IIID).
    Thompson JN; Jones MZ; Dawson G; Huffman PS
    J Inherit Metab Dis; 1992; 15(5):760-8. PubMed ID: 1434515
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Mucopolysaccharidosis type VI phenotypes-genotypes and antibody response to galsulfase.
    Brands MM; Hoogeveen-Westerveld M; Kroos MA; Nobel W; Ruijter GJ; Özkan L; Plug I; Grinberg D; Vilageliu L; Halley DJ; van der Ploeg AT; Reuser AJ
    Orphanet J Rare Dis; 2013 Apr; 8():51. PubMed ID: 23557332
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Attenuated mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) due to homozygosity for the p.Y210C mutation in the ARSB gene.
    Gottwald I; Hughes J; Stewart F; Tylee K; Church H; Jones SA
    Mol Genet Metab; 2011 Jul; 103(3):300-2. PubMed ID: 21514195
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Analysis of N-acetylgalactosamine-4-sulfatase protein and kinetics in mucopolysaccharidosis type VI patients.
    Brooks DA; McCourt PA; Gibson GJ; Ashton LJ; Shutter M; Hopwood JJ
    Am J Hum Genet; 1991 Apr; 48(4):710-9. PubMed ID: 1901688
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Umbilical cord blood transplantation for Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI).
    Lee V; Li CK; Shing MM; Chik KW; Lam CW; Tsang KS; Pong H; Huen KF; Yuen PM
    Bone Marrow Transplant; 2000 Aug; 26(4):455-8. PubMed ID: 10982295
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Two site-directed mutations abrogate enzyme activity but have different effects on the conformation and cellular content of the N-acetylgalactosamine 4-sulphatase protein.
    Brooks DA; Robertson DA; Bindloss C; Litjens T; Anson DS; Peters C; Morris CP; Hopwood JJ
    Biochem J; 1995 Apr; 307 ( Pt 2)(Pt 2):457-63. PubMed ID: 7733883
    [TBL] [Abstract][Full Text] [Related]  

  • 36. 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
    Am J Hum Genet; 1996 Jun; 58(6):1127-34. PubMed ID: 8651289
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Identification of arylsulfatase B gene mutations and clinical presentations of Iranian patients with Mucopolysaccharidosis VI.
    Aminzadeh M; Malekpour N; Ghandil P
    Gene; 2019 Jul; 706():1-5. PubMed ID: 31009684
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Restoration of arylsulphatase B activity in human mucopolysaccharidosis-type-VI fibroblasts by retroviral-vector-mediated gene transfer.
    Peters C; Rommerskirch W; Modaressi S; von Figura K
    Biochem J; 1991 Jun; 276 ( Pt 2)(Pt 2):499-504. PubMed ID: 1904721
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Deficiency of chondroitin sulfate N-acetylgalactosamine 4-sulfate sulfatase in Maroteaux-Lamy syndrome.
    Matalon R; Arbogast B; Dorfman A
    Biochem Biophys Res Commun; 1974 Dec; 61(4):1450-7. PubMed ID: 4218107
    [No Abstract]   [Full Text] [Related]  

  • 40. Pharmacokinetic profile of recombinant human N-acetylgalactosamine 4-sulphatase enzyme replacement therapy in patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): a phase I/II study.
    Harmatz P; Kramer WG; Hopwood JJ; Simon J; Butensky E; Swiedler SJ;
    Acta Paediatr Suppl; 2005 Mar; 94(447):61-8; discussion 57. PubMed ID: 15895715
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 10.