Effects of enzyme replacement therapy on five patients with advanced late-onset glycogen storage disease type II: a 2-year follow-up study

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

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference27 articles.

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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

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