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Year | Number of Results |
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2001 | 1 |
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Identification of 12 novel mutations in the alpha-N-acetylglucosaminidase gene in 14 patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB).
J Med Genet. 1998 Nov;35(11):910-4. doi: 10.1136/jmg.35.11.910.
J Med Genet. 1998.
PMID: 9832037
Free PMC article.
Allelic heterogeneity in Spanish patients with Sanfilippo disease type B. Identification of eight new mutations.
Coll MJ, Antón C, Chabás A.
Coll MJ, et al.
J Inherit Metab Dis. 2001 Feb;24(1):83-4. doi: 10.1023/a:1005627311402.
J Inherit Metab Dis. 2001.
PMID: 11286389
No abstract available.
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Molecular analysis of mucopolysaccharidosis type IIIB in Portugal: evidence of a single origin for a common mutation (R234C) in the Iberian Peninsula.
Mangas M, Nogueira C, Prata MJ, Lacerda L, Coll MJ, Soares G, Ribeiro G, Amaral O, Ferreira C, Alves C, Coutinho MF, Alves S.
Mangas M, et al.
Clin Genet. 2008 Mar;73(3):251-6. doi: 10.1111/j.1399-0004.2007.00951.x. Epub 2008 Jan 23.
Clin Genet. 2008.
PMID: 18218046
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Mucopolysaccharidosis type IIIB mutations in Chinese patients: identification of two novel NAGLU mutations and analysis of two cases involving prenatal diagnosis.
Tang J, Pan J, Guo Y, Ai Y, Jiang W, Du M, Fang Q.
Tang J, et al.
Clin Chim Acta. 2013 Apr 18;419:33-8. doi: 10.1016/j.cca.2013.01.009. Epub 2013 Feb 1.
Clin Chim Acta. 2013.
PMID: 23380547
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Mucopolysaccharidosis III in Taiwan: Natural history, clinical and molecular characteristics of 28 patients diagnosed during a 21-year period.
Lin HY, Chuang CK, Lee CL, Tu RY, Lo YT, Chiu PC, Niu DM, Fang YY, Chen TL, Tsai FJ, Hwu WL, Lin SJ, Chang TM, Lin SP.
Lin HY, et al.
Am J Med Genet A. 2018 Sep;176(9):1799-1809. doi: 10.1002/ajmg.a.40351. Epub 2018 Aug 2.
Am J Med Genet A. 2018.
PMID: 30070758
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