Literature DB >> 7866409

Mutation at the catalytic site (M519V) in glycogen storage disease type II (Pompe disease).

M L Huie1, R Hirschhorn, A S Chen, F Martiniuk, N Zhong.   

Abstract

Entities:  

Mesh：

Year:  1994        PMID： 7866409     DOI： 10.1002/humu.1380040410

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


× No keyword cloud information.
  3 in total

1.  Computer assisted cloning of human neutral alpha-glucosidase C (GANC): a new paralog in the glycosyl hydrolase gene family 31.

Authors:  R Hirschhorn; M L Huie; J S Kasper
Journal:  Proc Natl Acad Sci U S A       Date:  2002-10-07       Impact factor: 11.205

2.  A novel homozygous mutation at the GAA gene in Mexicans with early-onset Pompe disease.

Authors:  Carmen Esmer; Rosario Becerra-Becerra; Claudia Peña-Zepeda; Antonio Bravo-Oro
Journal:  Acta Myol       Date:  2013-10

3.  A review of treatment of Pompe disease in infants.

Authors:  Yin-Hsiu Chien; Wuh-Liang Hwu
Journal:  Biologics       Date:  2007-09
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.