Literature DB >> 10518288

A new polymorphism in the iduronate-2-sulphatase gene. Implications for the diagnosis of Hunter disease.

L Gort1, A Chabás, M J Coll.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1999        PMID： 10518288     DOI： 10.1023/a:1005570410851

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


× No keyword cloud information.
  2 in total

1.  Mutations of the iduronate-2-sulfatase gene on a T146T background in three patients with Hunter syndrome.

Authors:  P Li; P Huffman; J N Thompson
Journal:  Hum Mutat       Date:  1995       Impact factor: 4.878

Review 2.  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
  2 in total
  1 in total

1.  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
  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.