Similar articles for PMID: 10727844

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1975	1
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1995	3
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2018	4
2019	4
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2024	0

1

Heparan N-sulfatase gene: two novel mutations and transient expression of 15 defects.

Esposito S, Balzano N, Daniele A, Villani GR, Perkins K, Weber B, Hopwood JJ, Di Natale P. Esposito S, et al. Biochim Biophys Acta. 2000 Apr 15;1501(1):1-11. doi: 10.1016/s0925-4439(99)00118-0. Biochim Biophys Acta. 2000. PMID: 10727844 Free article.

2

Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutations.

Di Natale P, Balzano N, Esposito S, Villani GR. Di Natale P, et al. Hum Mutat. 1998;11(4):313-20. doi: 10.1002/(SICI)1098-1004(1998)11:4<313::AID-HUMU9>3.0.CO;2-P. Hum Mutat. 1998. PMID: 9554748

3

Identification and characterization of mutations underlying Sanfilippo syndrome type A (mucopolysaccharidosis type IIIA).

Lee-Chen GJ, Lin SP, Ko MH, Chuang CK, Chen CP, Lee HH, Cheng SC, Shen CH, Tseng KL, Li CL. Lee-Chen GJ, et al. Clin Genet. 2002 Mar;61(3):192-7. doi: 10.1034/j.1399-0004.2002.610304.x. Clin Genet. 2002. PMID: 12000360

4

Expression and functional characterization of human mutant sulfamidase in insect cells.

Montfort M, Garrido E, Hopwood JJ, Grinberg D, Chabás A, Vilageliu L. Montfort M, et al. Mol Genet Metab. 2004 Nov;83(3):246-51. doi: 10.1016/j.ymgme.2004.07.001. Mol Genet Metab. 2004. PMID: 15542396

5

Heparan N-sulfatase: in vitro mutagenesis of potential N-glycosylation sites.

Di Natale P, Vanacore B, Daniele A, Esposito S. Di Natale P, et al. Biochem Biophys Res Commun. 2001 Feb 9;280(5):1251-7. doi: 10.1006/bbrc.2001.4265. Biochem Biophys Res Commun. 2001. PMID: 11162662

6

[Postnatal and prenatal diagnosis of mucopolysaccharidosis type III (Sanfilippo syndrome)].

Zhang WM, Shi HP, Meng Y, Li BT, Qiu ZQ, Liu JT. Zhang WM, et al. Zhonghua Er Ke Za Zhi. 2008 Jun;46(6):407-10. Zhonghua Er Ke Za Zhi. 2008. PMID: 19099774 Chinese.

7

NAGLU mutations underlying Sanfilippo syndrome type B.

Schmidtchen A, Greenberg D, Zhao HG, Li HH, Huang Y, Tieu P, Zhao HZ, Cheng S, Zhao Z, Whitley CB, Di Natale P, Neufeld EF. Schmidtchen A, et al. Am J Hum Genet. 1998 Jan;62(1):64-9. doi: 10.1086/301685. Am J Hum Genet. 1998. PMID: 9443878 Free PMC article.

8

Molecular defects in the alpha-N-acetylglucosaminidase gene in Italian Sanfilippo type B patients.

Tessitore A, Villani GR, Di Domenico C, Filocamo M, Gatti R, Di Natale P. Tessitore A, et al. Hum Genet. 2000 Dec;107(6):568-76. doi: 10.1007/s004390000429. Hum Genet. 2000. PMID: 11153910

9

Genomic basis of mucopolysaccharidosis type IIID (MIM 252940) revealed by sequencing of GNS encoding N-acetylglucosamine-6-sulfatase.

Mok A, Cao H, Hegele RA. Mok A, et al. Genomics. 2003 Jan;81(1):1-5. doi: 10.1016/s0888-7543(02)00014-9. Genomics. 2003. PMID: 12573255

10

Molecular defects in Sanfilippo syndrome type A.

Blanch L, Weber B, Guo XH, Scott HS, Hopwood JJ. Blanch L, et al. Hum Mol Genet. 1997 May;6(5):787-91. doi: 10.1093/hmg/6.5.787. Hum Mol Genet. 1997. PMID: 9158154

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