Literature DB >> 8364592

Caveat to genotype-phenotype correlation in mucopolysaccharidosis type II: discordant clinical severity of R468W and R468Q mutations of the iduronate-2-sulfatase gene.

C B Whitley1, R A Anderson, E L Aronovich, P L Crotty, K Anyane-Yeboa, D Russo, D Warburton.   

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Year:  1993        PMID： 8364592     DOI： 10.1002/humu.1380020313

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


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  10 in total

1.  Deep Genotyping of the IDS Gene in Colombian Patients with Hunter Syndrome.

Authors:  Johanna Galvis; Jannet González; Alfredo Uribe; Harvy Velasco
Journal:  JIMD Rep       Date:  2015-02-15

2.  Epidemiology of mucopolysaccharidoses.

Authors:  Shaukat A Khan; Hira Peracha; Diana Ballhausen; Alfred Wiesbauer; Marianne Rohrbach; Matthias Gautschi; Robert W Mason; Roberto Giugliani; Yasuyuki Suzuki; Kenji E Orii; Tadao Orii; Shunji Tomatsu
Journal:  Mol Genet Metab       Date:  2017-05-26       Impact factor: 4.797

3.  Dried blood spots allow targeted screening to diagnose mucopolysaccharidosis and mucolipidosis.

Authors:  Paulina Nieves Cobos; Cordula Steglich; René Santer; Zoltan Lukacs; Andreas Gal
Journal:  JIMD Rep       Date:  2014-05-06

4.  Mutation analysis in the iduronate-2-sulphatase gene in 43 Japanese patients with mucopolysaccharidosis type II (Hunter disease).

Authors:  K Isogai; K Sukegawa; S Tomatsu; T Fukao; X Q Song; Y Yamada; S Fukuda; T Orii; N Kondo
Journal:  J Inherit Metab Dis       Date:  1998-02       Impact factor: 4.982

5.  Mutation analysis in 57 unrelated patients with MPS II (Hunter's disease).

Authors:  E Vafiadaki; A Cooper; L E Heptinstall; C E Hatton; M Thornley; J E Wraith
Journal:  Arch Dis Child       Date:  1998-09       Impact factor: 3.791

6.  Molecular analysis of the iduronate-2-sulfatase gene in Thai patients with Hunter syndrome.

Authors:  S Keeratichamroen; J R Ketudat Cairns; D Wattanasirichaigoon; P Wasant; L Ngiwsara; P Suwannarat; S Pangkanon; J Kuptanon; P Tanpaiboon; T Rujirawat; S Liammongkolkul; J Svasti
Journal:  J Inherit Metab Dis       Date:  2008-05-20       Impact factor: 4.982

7.  Molecular diagnosis of mucopolysaccharidosis type II (Hunter syndrome) by automated sequencing and computer-assisted interpretation: toward mutation mapping of the iduronate-2-sulfatase gene.

Authors:  J J Jonsson; E L Aronovich; S E Braun; C B Whitley
Journal:  Am J Hum Genet       Date:  1995-03       Impact factor: 11.025

8.  Identification of 17 novel mutations in 40 Argentinean unrelated families with mucopolysaccharidosis type II (Hunter syndrome).

Authors:  H Amartino; R Ceci; F Masllorens; A Gal; C Arberas; L Bay; R Ilari; J Dipierri; N Specola; A Cabrera; P Rozenfeld
Journal:  Mol Genet Metab Rep       Date:  2014-09-17

9.  Clinical, biochemical and molecular characteristics of Filipino patients with mucopolysaccharidosis type II - Hunter syndrome.

Authors:  Mary Anne D Chiong; Daffodil M Canson; Mary Ann R Abacan; Melissa Mae P Baluyot; Cynthia P Cordero; Catherine Lynn T Silao
Journal:  Orphanet J Rare Dis       Date:  2017-01-11       Impact factor: 4.123

10.  Identification and Functional Characterization of IDS Gene Mutations Underlying Taiwanese Hunter Syndrome (Mucopolysaccharidosis Type II).

Authors:  Hsiang-Yu Lin; Ru-Yi Tu; Schu-Rern Chern; Yun-Ting Lo; Sisca Fran; Fang-Jie Wei; Sung-Fa Huang; Shin-Yu Tsai; Ya-Hui Chang; Chung-Lin Lee; Shuan-Pei Lin; Chih-Kuang Chuang
Journal:  Int J Mol Sci       Date:  2019-12-23       Impact factor: 5.923
  10 in total

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