Author:
Furusawa Yoshihiko,Mori-Yoshimura Madoka,Yamamoto Toshiyuki,Sakamoto Chikako,Wakita Mizuki,Kobayashi Yoko,Fukumoto Yutaka,Oya Yasushi,Fukuda Tokiko,Sugie Hideo,Hayashi Yukiko K.,Nishino Ichizo,Nonaka Ikuya,Murata Miho
Subject
Genetics (clinical),Genetics
Reference27 articles.
1. Bach JR (2004) Pulmonary defence mechanisms and cough peak flow. In: Management of patients with neuromuscular disorders. Hanley & Belfus, Philadelphia, pp 193–199
2. Case LE, Koeberl DD et al (2008) Improvement with ongoing enzyme replacement therapy in advanced late-onset Pompe disease: a case study. Mol Genet Metab 95:233–235
3. Engel AG, Hirschhorn RH, Hue ML (2004) Acid maltase deficiency. In: Engel AG, Franzini-Armstrong C (eds) Myology, 3rd ed. McGraw-Hill, New York, pp 1559–1586
4. Hermans MM, van Leenen D et al (2004) Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II. Hum Mutat 23:47–56
5. Hirshhorn R, Reuser AJJ (2001) Glycogen storage disease type II; acid alpha-glycosidase (acid maltase) deficiency. In: Scriver CR, Baudet AL, Sly WS (eds) The metabolic and molecular bases of inherited disease. McGraw-Hill, New York, pp 3389–3420
Cited by
30 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