Literature DB >> 9266380

Molecular analysis in 23 Hunter disease families.

W Lissens1, S Seneca, I Liebaers.   

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Year:  1997        PMID： 9266380     DOI： 10.1023/a:1005335624386

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  6 in total

1.  Determination of the organisation of coding sequences within the iduronate sulphate sulphatase (IDS) gene.

Authors:  R H Flomen; E P Green; P M Green; D R Bentley; F Giannelli
Journal:  Hum Mol Genet       Date:  1993-01       Impact factor: 6.150

2.  Hunter syndrome: isolation of an iduronate-2-sulfatase cDNA clone and analysis of patient DNA.

Authors:  P J Wilson; C P Morris; D S Anson; T Occhiodoro; J Bielicki; P R Clements; J J Hopwood
Journal:  Proc Natl Acad Sci U S A       Date:  1990-11       Impact factor: 11.205

3.  Mutation analysis of the pyruvate dehydrogenase E1 alpha gene in eight patients with a pyruvate dehydrogenase complex deficiency.

Authors:  W Lissens; L De Meirleir; S Seneca; C Benelli; C Marsac; B T Poll-The; P Briones; W Ruitenbeek; O van Diggelen; D Chaigne; V Ramaekers; I Liebaers
Journal:  Hum Mutat       Date:  1996       Impact factor: 4.878

4.  Mucopolysaccharidosis type II (Hunter disease): identification and characterization of eight point mutations in the iduronate-2-sulfatase gene in Japanese patients.

Authors:  K Sukegawa; S Tomatsu; T Fukao; H Iwata; X Q Song; Y Yamada; S Fukuda; K Isogai; T Orii
Journal:  Hum Mutat       Date:  1995       Impact factor: 4.878

Review 5.  Molecular basis of mucopolysaccharidosis type II: mutations in the iduronate-2-sulphatase gene.

Authors:  J J Hopwood; S Bunge; C P Morris; P J Wilson; C Steglich; M Beck; E Schwinger; A Gal
Journal:  Hum Mutat       Date:  1993       Impact factor: 4.878

6.  Sequence of the human iduronate 2-sulfatase (IDS) gene.

Authors:  P J Wilson; C A Meaney; J J Hopwood; C P Morris
Journal:  Genomics       Date:  1993-09       Impact factor: 5.736
  6 in total
  8 in total

1.  Clinical and Genetic Characteristics of Romanian Patients with Mucopolysaccharidosis Type II.

Authors:  Camelia Alkhzouz; Cecilia Lazea; Simona Bucerzan; Ioana Nascu; Eva Kiss; Carmencita Lucia Denes; Paula Grigorescu-Sido
Journal:  JIMD Rep       Date:  2016-06-29

2.  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

3.  Detailed molecular characterization of a novel IDS exonic mutation associated with multiple pseudoexon activation.

Authors:  L Grodecká; T Kováčová; M Kramárek; S Seneca; K Stouffs; C De Laet; F Majer; T Kršjaková; P Hujová; K Hrnčířová; P Souček; W Lissens; E Buratti; Tomas Freiberger
Journal:  J Mol Med (Berl)       Date:  2016-11-12       Impact factor: 4.599

4.  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

Review 5.  Hunter disease in the Spanish population: molecular analysis in 31 families.

Authors:  L Gort; A Chabás; M J Coll
Journal:  J Inherit Metab Dis       Date:  1998-08       Impact factor: 4.982

6.  Correction of CNS defects in the MPSII mouse model via systemic enzyme replacement therapy.

Authors:  Vinicia Assunta Polito; Serena Abbondante; Roman S Polishchuk; Edoardo Nusco; Rosaria Salvia; Maria Pia Cosma
Journal:  Hum Mol Genet       Date:  2010-09-27       Impact factor: 6.150

7.  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

8.  Phase I/II clinical trial of enzyme replacement therapy with idursulfase beta in patients with mucopolysaccharidosis II (Hunter syndrome).

Authors:  Young Bae Sohn; Sung Yoon Cho; Sung Won Park; Su Jin Kim; Ah-Ra Ko; Eun-Kyung Kwon; Sun Ju Han; Dong-Kyu Jin
Journal:  Orphanet J Rare Dis       Date:  2013-03-18       Impact factor: 4.123
  8 in total

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