Pompe disease (glycogen storage disease type II) in Argentineans: Clinical manifestations and identification of 9 novel mutations-Reference-Cited by-同舟云学术

Pompe disease (glycogen storage disease type II) in Argentineans: Clinical manifestations and identification of 9 novel mutations

Published:2007-01 Issue:1 Volume:17 Page:16-22
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Palmer Rachel E.,Amartino Hernan M.,Niizawa Gabriela,Blanco Mariana,Pomponio Robert J.,Chamoles Nestor A.

Publisher

Elsevier BV

Subject

Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health

Reference32 articles.

1. Glycogen storage disease type II: acid alpha-glucosidase (acid maltase) deficiency;Hirschhorn,2001

2. Pompe disease in infants and children;Kishnani;J Pediatr,2004

3. Acid alpha-glucosidase deficiency (glycogenosis type II, Pompe disease);Raben;Curr Mol Med,2002

4. Database of Single Nucleotide Polymorphisms (dbSNP). Bethesda (MD): National Center for Biotechnology Information, National Library of Medicine. Gene ID 2548. Available from: http://www.ncbi.nlm.nih.gov/SNP/.

5. The effect of a single base pair deletion (delta T525) and a C1634T missense mutation (pro545leu) on the expression of lysosomal alpha-glucosidase in patients with glycogen storage disease type II;Hermans;Hum Mol Genet,1994

Cited by 25 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. An artificial intelligence-based approach for identifying rare disease patients using retrospective electronic health records applied for Pompe disease;Frontiers in Neurology;2023-04-21

2. Genotype–phenotype correlation of 17 cases of Pompe disease in Spanish patients and identification of 4 novel GAA variants;Orphanet Journal of Rare Diseases;2021-05-21

3. Splice modulating antisense oligonucleotides restore some acid-alpha-glucosidase activity in cells derived from patients with late-onset Pompe disease;Scientific Reports;2020-04-21

4. Targeted molecular genetic testing in young sudden cardiac death victims from Western Denmark;International Journal of Legal Medicine;2019-11-15

5. Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand;BMC Medical Genetics;2019-09-11