Literature DB >> 9819708

Prevalence of arylsulphatase A mutations in 11 Japanese patients with metachromatic leukodystrophy: identification of two novel mutations.

K Kurosawa1, H Ida, Y Eto.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1998        PMID： 9819708     DOI： 10.1023/a:1005405418215

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


× No keyword cloud information.
  2 in total

1.  Mutation prevalence among 47 unrelated Japanese patients with Gaucher disease: identification of four novel mutations.

Authors:  H Ida; O M Rennert; H Kawame; K Maekawa; Y Eto
Journal:  J Inherit Metab Dis       Date:  1997-03       Impact factor: 4.982

2.  Arylsulfatase A pseudodeficiency: loss of a polyadenylylation signal and N-glycosylation site.

Authors:  V Gieselmann; A Polten; J Kreysing; K von Figura
Journal:  Proc Natl Acad Sci U S A       Date:  1989-12       Impact factor: 11.205
  2 in total
  1 in total

1.  Late infantile metachromatic leukodystrophy: Clinical manifestations of five Taiwanese patients and Genetic features in Asia.

Authors:  Hsiang-Ru Liaw; Hsiu-Fen Lee; Ching-Shiang Chi; Chi-Ren Tsai
Journal:  Orphanet J Rare Dis       Date:  2015-11-09       Impact factor: 4.123
  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.