Literature DB >> 11015461

MPS II in females: molecular basis of two different cases.

S Cudry, I Tigaud, R Froissart, V Bonnet, I Maire, D Bozon.   

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Year:  2000        PMID： 11015461      PMCID： PMC1757154          DOI： 10.1136/jmg.37.10.e29

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


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  15 in total

1.  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

Review 2.  Genetic Infiltrative Cardiomyopathies.

Authors:  Mary E Sweet; Luisa Mestroni; Matthew R G Taylor
Journal:  Heart Fail Clin       Date:  2018-04       Impact factor: 3.179

3.  Effect of Hunter disease (mucopolysaccharidosis type II) mutations on molecular phenotypes of iduronate-2-sulfatase: enzymatic activity, protein processing and structural analysis.

Authors:  K Sukegawa-Hayasaka; Z Kato; H Nakamura; S Tomatsu; T Fukao; K Kuwata; T Orii; N Kondo
Journal:  J Inherit Metab Dis       Date:  2006-11-07       Impact factor: 4.982

4.  Mortality and cause of death in mucopolysaccharidosis type II-a historical review based on data from the Hunter Outcome Survey (HOS).

Authors:  S A Jones; Z Almássy; M Beck; K Burt; J T Clarke; R Giugliani; C Hendriksz; T Kroepfl; L Lavery; S-P Lin; G Malm; U Ramaswami; R Tincheva; J E Wraith
Journal:  J Inherit Metab Dis       Date:  2009-07-14       Impact factor: 4.982

5.  Hunter syndrome in an 11-year old girl on enzyme replacement therapy with idursulfase: brain magnetic resonance imaging features and evolution.

Authors:  Renzo Manara; Angelica Rampazzo; Mara Cananzi; Leonardo Salviati; Rodica Mardari; Paola Drigo; Rosella Tomanin; Nicoletta Gasparotto; Elena Priante; Maurizio Scarpa
Journal:  J Inherit Metab Dis       Date:  2010-01-06       Impact factor: 4.982

Review 6.  Expression of the disease on female carriers of X-linked lysosomal disorders: a brief review.

Authors:  Louise L C Pinto; Taiane A Vieira; Roberto Giugliani; Ida V D Schwartz
Journal:  Orphanet J Rare Dis       Date:  2010-05-28       Impact factor: 4.123

7.  Clinical and biochemical studies in mucopolysaccharidosis type II carriers.

Authors:  I V D Schwartz; L L C Pinto; G Breda; L Lima; M G Ribeiro; J G Mota; A X Acosta; P Correia; D D G Horovitz; C G G Porciuncula; E Lipinski-Figueiredo; A C Fett-Conte; R P Oliveira Sobrinho; D Y J Norato; A C Paula; C A Kim; A R Duarte; R Boy; S Leistner-Segal; M G Burin; R Giugliani
Journal:  J Inherit Metab Dis       Date:  2009-10-10       Impact factor: 4.982

Review 8.  Mucopolysaccharidoses.

Authors:  Rolando Cimaz; Francesco La Torre
Journal:  Curr Rheumatol Rep       Date:  2014-01       Impact factor: 4.592

Review 9.  Dosage Compensation in Females with X-Linked Metabolic Disorders.

Authors:  Patrycja Juchniewicz; Ewa Piotrowska; Anna Kloska; Magdalena Podlacha; Jagoda Mantej; Grzegorz Węgrzyn; Stefan Tukaj; Joanna Jakóbkiewicz-Banecka
Journal:  Int J Mol Sci       Date:  2021-04-26       Impact factor: 5.923

10.  Presentation and Treatments for Mucopolysaccharidosis Type II (MPS II; Hunter Syndrome).

Authors:  Molly Stapleton; Francyne Kubaski; Robert W Mason; Hiromasa Yabe; Yasuyuki Suzuki; Kenji E Orii; Tadao Orii; Shunji Tomatsu
Journal:  Expert Opin Orphan Drugs       Date:  2017-03-08       Impact factor: 0.694
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