A novel missense mutation in the acid alpha-glucosidase gene causing the classic infantile form of Pompe disease
Author:
Publisher
Elsevier BV
Subject
Biochemistry (medical),Clinical Biochemistry,Biochemistry,General Medicine
Reference6 articles.
1. Acid α-glucosidase deficiency (glycogenosis type II, Pompe disease);Raben;Curr Mol Med,2002
2. Alpha-1,4 glucosidase activity in Pompe's disease;Salafsky;J Pediatr,1971
3. Juvenile and adult-onset acid maltase deficiency in France: genotype-phenotype correlation;Laforet;Neurol,2000
4. Identification of four novel mutations in the alpha glucosidase gene in five Italian patients with infantile onset glycogen storage disease type II;Pittis;Am J Med Genet A,2003
5. Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II;Hermans;Hum Mutat,2004
Cited by 2 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. Lysosomal Dysfunction: Connecting the Dots in the Landscape of Human Diseases;Biology;2024-01-07
2. The molecular basis for Pompe disease revealed by the structure of human acid α-glucosidase;2017-11-01
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