Literature DB >> 11836372

Identification and characterisation of mutations underlying Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB).

G J Lee-Chen1, S P Lin, S Z Lin, C K Chuang, K T Hsiao, C F Huang, W C Lien.   

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Year:  2002        PMID： 11836372      PMCID： PMC1735050          DOI： 10.1136/jmg.39.2.e3

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  7 in total

1.  Molecular defects in Sanfilippo syndrome type B (mucopolysaccharidosis IIIB).

Authors:  C E Beesley; M Jackson; E P Young; A Vellodi; B G Winchester
Journal:  J Inherit Metab Dis       Date:  2005       Impact factor: 4.982

2.  Expression studies of mutations underlying Taiwanese Hunter syndrome (mucopolysaccharidosis type II).

Authors:  Jui-Hung Chang; Shuan-Pei Lin; Shu-Chuan Lin; Kai-Li Tseng; Chia-Ling Li; Chih-Kuang Chuang; Guey-Jen Lee-Chen
Journal:  Hum Genet       Date:  2004-12-22       Impact factor: 4.132

3.  Ensemble variant interpretation methods to predict enzyme activity and assign pathogenicity in the CAGI4 NAGLU (Human N-acetyl-glucosaminidase) and UBE2I (Human SUMO-ligase) challenges.

Authors:  Yizhou Yin; Kunal Kundu; Lipika R Pal; John Moult
Journal:  Hum Mutat       Date:  2017-06-27       Impact factor: 4.878

4.  Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype.

Authors:  Marlies J Valstar; Hennie T Bruggenwirth; Renske Olmer; Ron A Wevers; Frans W Verheijen; Ben J Poorthuis; Dicky J Halley; Frits A Wijburg
Journal:  J Inherit Metab Dis       Date:  2010-09-18       Impact factor: 4.982

Review 5.  Sanfilippo syndrome: a mini-review.

Authors:  M J Valstar; G J G Ruijter; O P van Diggelen; B J Poorthuis; F A Wijburg
Journal:  J Inherit Metab Dis       Date:  2008-04-04       Impact factor: 4.982

6.  "Genotype-first" approaches on a curious case of idiopathic progressive cognitive decline.

Authors:  Lingling Shi; Bingxiao Li; Yonglan Huang; Xueying Ling; Tianyun Liu; Gholson J Lyon; Anding Xu; Kai Wang
Journal:  BMC Med Genomics       Date:  2014-12-03       Impact factor: 3.063

7.  A rapid and sensitive method for measuring N-acetylglucosaminidase activity in cultured cells.

Authors:  Victor Mauri; Parisa Lotfi; Laura Segatori; Marco Sardiello
Journal:  PLoS One       Date:  2013-06-28       Impact factor: 3.240
  7 in total

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