Improvement with ongoing Enzyme Replacement Therapy in advanced late-onset Pompe disease: a case study.
Publication
, Journal Article
Case, LE; Koeberl, DD; Young, SP; Bali, D; DeArmey, SM; Mackey, J; Kishnani, PS
Published in: Mol Genet Metab
December 2008
Benefits of enzyme replacement therapy with Myozyme (alglucosidase alfa), anecdotally reported in late-onset Pompe disease, range from motor and pulmonary improvement in less severely affected patients, to stabilization with minimal improvement in those with advanced disease. We report a case of a 63-year-old patient with significant morbidity who made notable motor and pulmonary function gains after two years on therapy. Thus, improvements in those with advanced disease may be possible after long-term treatment.
Duke Scholars
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Published In
Mol Genet Metab
DOI
EISSN
1096-7206
Publication Date
December 2008
Volume
95
Issue
4
Start / End Page
233 / 235
Location
United States
Related Subject Headings
- alpha-Glucosidases
- Treatment Outcome
- Motor Activity
- Middle Aged
- Humans
- Glycogen Storage Disease Type II
- Genetics & Heredity
- Female
- Biological Therapy
- 3202 Clinical sciences
Citation
APA
Chicago
ICMJE
MLA
NLM
Case, L. E., Koeberl, D. D., Young, S. P., Bali, D., DeArmey, S. M., Mackey, J., & Kishnani, P. S. (2008). Improvement with ongoing Enzyme Replacement Therapy in advanced late-onset Pompe disease: a case study. Mol Genet Metab, 95(4), 233–235. https://doi.org/10.1016/j.ymgme.2008.09.001
Case, Laura E., Dwight D. Koeberl, Sarah P. Young, Deeksha Bali, Stephanie M. DeArmey, Joanne Mackey, and Priya S. Kishnani. “Improvement with ongoing Enzyme Replacement Therapy in advanced late-onset Pompe disease: a case study.” Mol Genet Metab 95, no. 4 (December 2008): 233–35. https://doi.org/10.1016/j.ymgme.2008.09.001.
Case LE, Koeberl DD, Young SP, Bali D, DeArmey SM, Mackey J, et al. Improvement with ongoing Enzyme Replacement Therapy in advanced late-onset Pompe disease: a case study. Mol Genet Metab. 2008 Dec;95(4):233–5.
Case, Laura E., et al. “Improvement with ongoing Enzyme Replacement Therapy in advanced late-onset Pompe disease: a case study.” Mol Genet Metab, vol. 95, no. 4, Dec. 2008, pp. 233–35. Pubmed, doi:10.1016/j.ymgme.2008.09.001.
Case LE, Koeberl DD, Young SP, Bali D, DeArmey SM, Mackey J, Kishnani PS. Improvement with ongoing Enzyme Replacement Therapy in advanced late-onset Pompe disease: a case study. Mol Genet Metab. 2008 Dec;95(4):233–235.
Published In
Mol Genet Metab
DOI
EISSN
1096-7206
Publication Date
December 2008
Volume
95
Issue
4
Start / End Page
233 / 235
Location
United States
Related Subject Headings
- alpha-Glucosidases
- Treatment Outcome
- Motor Activity
- Middle Aged
- Humans
- Glycogen Storage Disease Type II
- Genetics & Heredity
- Female
- Biological Therapy
- 3202 Clinical sciences