164 related articles for article (PubMed ID: 23633437)
1. Mucopolysaccharidosis type VI: a predominantly cardiac phenotype associated with homozygosity for p.R152W mutation in the ARSB gene.
Jurecka A; Zakharova E; Cimbalistiene L; Gusina N; Kulpanovich A; Golda A; Opoka-Winiarska V; Piotrowska E; Voskoboeva E; Tylki-Szymańska A
Am J Med Genet A; 2013 Jun; 161A(6):1291-9. PubMed ID: 23633437
[TBL] [Abstract][Full Text] [Related]
2. Mucopolysaccharidosis type VI: case report with first neonatal presentation with ascites fetalis and rapidly progressive cardiac manifestation.
Honjo RS; Vaca ECN; Leal GN; Abellan DM; Ikari NM; Jatene MB; Martins AM; Kim CA
BMC Med Genet; 2020 Feb; 21(1):37. PubMed ID: 32075597
[TBL] [Abstract][Full Text] [Related]
3. Molecular analysis of mucopolysaccharidosis type VI in Poland, Belarus, Lithuania and Estonia.
Jurecka A; Piotrowska E; Cimbalistiene L; Gusina N; Sobczyńska A; Czartoryska B; Czerska K; Õunap K; Węgrzyn G; Tylki-Szymańska A
Mol Genet Metab; 2012 Feb; 105(2):237-43. PubMed ID: 22133300
[TBL] [Abstract][Full Text] [Related]
4. Novel mutations of the arylsulphatase B (ARSB) gene in Indian patients with mucopolysaccharidosis type VI.
Uttarilli A; Ranganath P; Jain SJ; Prasad CK; Sinha A; Verma IC; Phadke SR; Puri RD; Danda S; Muranjan MN; Jevalikar G; Nagarajaram HA; Dalal AB
Indian J Med Res; 2015 Oct; 142(4):414-25. PubMed ID: 26609033
[TBL] [Abstract][Full Text] [Related]
5. Attenuated osteoarticular phenotype of type VI mucopolysaccharidosis: a report of four patients and a review of the literature.
Jurecka A; Zakharova E; Malinova V; Voskoboeva E; Tylki-Szymańska A
Clin Rheumatol; 2014 May; 33(5):725-31. PubMed ID: 24221504
[TBL] [Abstract][Full Text] [Related]
6. [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]
7. Clinical manifestations of 17 patients affected with mucopolysaccharidosis type VI and eight novel ARSB mutations.
Kantaputra PN; Kayserili H; Guven Y; Kantaputra W; Balci MC; Tanpaiboon P; Tananuvat N; Uttarilli A; Dalal A
Am J Med Genet A; 2014 Jun; 164A(6):1443-53. PubMed ID: 24677745
[TBL] [Abstract][Full Text] [Related]
8. Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) with a predominantly cardiac phenotype.
Jurecka A; Golda A; Opoka-Winiarska V; Piotrowska E; Tylki-Szymańska A
Mol Genet Metab; 2011 Dec; 104(4):695-9. PubMed ID: 21917494
[TBL] [Abstract][Full Text] [Related]
9. Mucopolysaccharidosis type VI (MPS VI) and molecular analysis: Review and classification of published variants in the ARSB gene.
Tomanin R; Karageorgos L; Zanetti A; Al-Sayed M; Bailey M; Miller N; Sakuraba H; Hopwood JJ
Hum Mutat; 2018 Dec; 39(12):1788-1802. PubMed ID: 30118150
[TBL] [Abstract][Full Text] [Related]
10. ARSB gene variants causing Mucopolysaccharidosis VI in Miniature Pinscher and Miniature Schnauzer dogs.
Raj K; Berman-Booty L; Foureman P; Giger U
Anim Genet; 2020 Dec; 51(6):982-986. PubMed ID: 32985704
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Novel Mutations, Including a Large Deletion in the ARSB Gene, Causing Mucopolysaccharidosis Type VI.
Ittiwut C; Boonbuamas S; Srichomthong C; Ittiwut R; Suphapeetiporn K; Shotelersuk V
Genet Test Mol Biomarkers; 2017 Jan; 21(1):58-62. PubMed ID: 27797586
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Mucopolysaccharidosis type VI: Structural and clinical implications of mutations in N-acetylgalactosamine-4-sulfatase.
Litjens T; Hopwood JJ
Hum Mutat; 2001 Oct; 18(4):282-95. PubMed ID: 11668612
[TBL] [Abstract][Full Text] [Related]
15. 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
Hum Mutat; 2007 Sep; 28(9):897-903. PubMed ID: 17458871
[TBL] [Abstract][Full Text] [Related]
16. 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.
Bradford TM; Litjens T; Parkinson EJ; Hopwood JJ; Brooks DA
Biochemistry; 2002 Apr; 41(15):4962-71. PubMed ID: 11939792
[TBL] [Abstract][Full Text] [Related]
17. Mucopolysaccharidosis type VI: Report of two Taiwanese patients and identification of one novel mutation.
Yang CF; Wu JY; Lin SP; Tsai FJ
J Formos Med Assoc; 2001 Dec; 100(12):820-3. PubMed ID: 11802522
[TBL] [Abstract][Full Text] [Related]
18. Identification of eleven different mutations including six novel, in the arylsulfatase B gene in Iranian patients with mucopolysaccharidosis type VI.
Jafaryazdi R; Shams S; Isaian A; Setoodeh A; Teimourian S
Mol Biol Rep; 2019 Jun; 46(3):3417-3426. PubMed ID: 30982216
[TBL] [Abstract][Full Text] [Related]
19. Another Novel Missense Mutation in ARSB Gene in Iran.
Abbasi S; Noruzinia M; Bashti O; Ahmadvand M; Salehi Chaleshtori AR; Mahootipou L
Acta Med Iran; 2017 Sep; 55(9):585-590. PubMed ID: 29202552
[TBL] [Abstract][Full Text] [Related]
20. Database of the clinical phenotypes, genotypes and mutant arylsulfatase B structures in mucopolysaccharidosis type VI.
Saito S; Ohno K; Sekijima M; Suzuki T; Sakuraba H
J Hum Genet; 2012 Apr; 57(4):280-2. PubMed ID: 22336888
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
