Literature DB >> 11723305

Juvenile and adult-onset acid maltase deficiency in France: genotype-phenotype correlation.

M G Ausems, J H Wokke, A J Reuser, O P van Diggelen.   

Abstract

Entities:  

Mesh:

Substances:

Year:  2001        PMID: 11723305     DOI: 10.1212/wnl.57.10.1938

Source DB:  PubMed          Journal:  Neurology        ISSN: 0028-3878            Impact factor:   9.910


× No keyword cloud information.
  4 in total

1.  [Diagnosis and differential diagnosis of lysosomal glycogen storage disease].

Authors:  D Fischer; S Paus; R Schröder
Journal:  Nervenarzt       Date:  2003-10       Impact factor: 1.214

2.  Direct multiplex assay of lysosomal enzymes in dried blood spots for newborn screening.

Authors:  Yijun Li; C Ronald Scott; Nestor A Chamoles; Ahmad Ghavami; B Mario Pinto; Frantisek Turecek; Michael H Gelb
Journal:  Clin Chem       Date:  2004-08-03       Impact factor: 8.327

3.  36 months observational clinical study of 38 adult Pompe disease patients under alglucosidase alfa enzyme replacement therapy.

Authors:  Caroline Regnery; Cornelia Kornblum; Frank Hanisch; Stefan Vielhaber; Nicola Strigl-Pill; Birgit Grunert; Wolfgang Müller-Felber; Franz Xaver Glocker; Matthias Spranger; Marcus Deschauer; Eugen Mengel; Benedikt Schoser
Journal:  J Inherit Metab Dis       Date:  2012-01-31       Impact factor: 4.982

4.  Carbohydrate-remodelled acid alpha-glucosidase with higher affinity for the cation-independent mannose 6-phosphate receptor demonstrates improved delivery to muscles of Pompe mice.

Authors:  Yunxiang Zhu; Xuemei Li; Alison McVie-Wylie; Canwen Jiang; Beth L Thurberg; Nina Raben; Robert J Mattaliano; Seng H Cheng
Journal:  Biochem J       Date:  2005-08-01       Impact factor: 3.857

  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.