336 related articles for article (PubMed ID: 27825773)
1. Four novel mutations in the N-acetylgalactosamine-6-sulfate sulfatase gene among Egyptian patients with Morquio A disease.
Fateen EM; El Mawgoud HA; Eissa NR; Ibrahim MM; Aglan MS; Essawi ML
Gene; 2017 Feb; 600():48-54. PubMed ID: 27825773
[TBL] [Abstract][Full Text] [Related]
2. 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. PubMed ID: 16378744
[TBL] [Abstract][Full Text] [Related]
3. Molecular analysis of Turkish mucopolysaccharidosis IVA (Morquio A) patients: identification of novel mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene.
Terzioglu M; Tokatli A; Coskun T; Emre S
Hum Mutat; 2002 Dec; 20(6):477-8. PubMed ID: 12442278
[TBL] [Abstract][Full Text] [Related]
4. Mutations and polymorphisms in N-acetylgalactosamine-6-sulfate sulfatase gene in Turkish Morquio A patients.
Khedhiri S; Chkioua L; Elcioglu N; Laradi S; Miled A
Pathol Biol (Paris); 2014 Feb; 62(1):38-40. PubMed ID: 24411403
[TBL] [Abstract][Full Text] [Related]
5. [Analysis of GALNS gene mutation in thirty-eight Chinese patients with mucopolysaccharidosis type IVA].
Ye J; Lei HL; Zhang HW; Qiu WJ; Han LS; Wang Y; Li XY; Gu XF
Zhonghua Er Ke Za Zhi; 2013 Jun; 51(6):414-9. PubMed ID: 24120057
[TBL] [Abstract][Full Text] [Related]
6. Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations.
Morrone A; Tylee KL; Al-Sayed M; Brusius-Facchin AC; Caciotti A; Church HJ; Coll MJ; Davidson K; Fietz MJ; Gort L; Hegde M; Kubaski F; Lacerda L; Laranjeira F; Leistner-Segal S; Mooney S; Pajares S; Pollard L; Ribeiro I; Wang RY; Miller N
Mol Genet Metab; 2014 Jun; 112(2):160-70. PubMed ID: 24726177
[TBL] [Abstract][Full Text] [Related]
7. 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; 63(4):558-65. PubMed ID: 8826435
[TBL] [Abstract][Full Text] [Related]
8. 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. PubMed ID: 16287098
[TBL] [Abstract][Full Text] [Related]
9. 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; 532(1):46-52. PubMed ID: 24035930
[TBL] [Abstract][Full Text] [Related]
10. Molecular analysis in a GALNS study cohort of 15 Tunisian patients: description of a novel mutation.
Chkioua L; Khedhiri S; Hafsi H; Grissa O; Ben Turkia H; Miled A; Laradi S; Froissart R; Alif N
Diagn Pathol; 2016 Jun; 11(1):51. PubMed ID: 27317439
[TBL] [Abstract][Full Text] [Related]
11. Novel missense mutation in the GALNS gene in an affected patient with severe form of mucopolysaccharidosis type IVA.
Seyedhassani SM; Hashemi-Gorji F; Yavari M; Mirfakhraie R
Clin Chim Acta; 2015 Oct; 450():121-4. PubMed ID: 26276046
[TBL] [Abstract][Full Text] [Related]
12. 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. PubMed ID: 15241807
[TBL] [Abstract][Full Text] [Related]
13. Review of clinical presentation and diagnosis of mucopolysaccharidosis IVA.
Hendriksz CJ; Harmatz P; Beck M; Jones S; Wood T; Lachman R; Gravance CG; Orii T; Tomatsu S
Mol Genet Metab; 2013; 110(1-2):54-64. PubMed ID: 23665161
[TBL] [Abstract][Full Text] [Related]
14. Murine model (Galns(tm(C76S)slu)) of MPS IVA with missense mutation at the active site cysteine conserved among sulfatase proteins.
Tomatsu S; Vogler C; Montaño AM; Gutierrez M; Oikawa H; Dung VC; Orii T; Noguchi A; Sly WS
Mol Genet Metab; 2007 Jul; 91(3):251-8. PubMed ID: 17498992
[TBL] [Abstract][Full Text] [Related]
15. Mucopolysaccharidosis IVA: correlation between genotype, phenotype and keratan sulfate levels.
Dũng VC; Tomatsu S; Montaño AM; Gottesman G; Bober MB; Mackenzie W; Maeda M; Mitchell GA; Suzuki Y; Orii T
Mol Genet Metab; 2013; 110(1-2):129-38. PubMed ID: 23876334
[TBL] [Abstract][Full Text] [Related]
16. [Morquio A disease: clinical and molecular study of Tunisian patients].
Khedhiri S; Chkioua L; Ferchichi S; Miled A; Laradi S
Ann Biol Clin (Paris); 2011; 69(4):425-9. PubMed ID: 21896407
[TBL] [Abstract][Full Text] [Related]
17. Morquio A syndrome: cloning, sequence, and structure of the human N-acetylgalactosamine 6-sulfatase (GALNS) gene.
Morris CP; Guo XH; Apostolou S; Hopwood JJ; Scott HS
Genomics; 1994 Aug; 22(3):652-4. PubMed ID: 8001980
[TBL] [Abstract][Full Text] [Related]
18. 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
Am J Hum Genet; 1995 Sep; 57(3):556-63. PubMed ID: 7668283
[TBL] [Abstract][Full Text] [Related]
19. Clinical, biochemical and genetic profiles of patients with mucopolysaccharidosis type IVA (Morquio A syndrome) in Malaysia: the first national natural history cohort study.
Leong HY; Abdul Azize NA; Chew HB; Keng WT; Thong MK; Mohd Khalid MKN; Hung LC; Mohamed Zainudin N; Ramlee A; Md Haniffa MA; Yakob Y; Ngu LH
Orphanet J Rare Dis; 2019 Jun; 14(1):143. PubMed ID: 31200731
[TBL] [Abstract][Full Text] [Related]
20. Development of MPS IVA mouse (Galnstm(hC79S.mC76S)slu) tolerant to human N-acetylgalactosamine-6-sulfate sulfatase.
Tomatsu S; Gutierrez M; Nishioka T; Yamada M; Yamada M; Tosaka Y; Grubb JH; Montaño AM; Vieira MB; Trandafirescu GG; Peña OM; Yamaguchi S; Orii KO; Orii T; Noguchi A; Laybauer L
Hum Mol Genet; 2005 Nov; 14(22):3321-35. PubMed ID: 16219627
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]