Low anal sphincter tone in infantile-onset Pompe Disease: an emerging clinical issue in enzyme replacement therapy patients requiring special attention.
Publication
, Journal Article
Tan, QK-G; Cheah, SM; Dearmey, SM; Kishnani, PS
Published in: Mol Genet Metab
February 2013
Pompe Disease (PD) is a lysosomal storage disease caused by acid α-glucosidase deficiency. The infantile form typically results in death in the first year of life. Patient survival has improved with enzyme replacement therapy (ERT), but new complications are being recognized. We report three cases of infantile onset PD on ERT who present with a new finding of poor anal tone, a finding that requires special attention for further complications such as rectal prolapse.
Duke Scholars
Published In
Mol Genet Metab
DOI
EISSN
1096-7206
Publication Date
February 2013
Volume
108
Issue
2
Start / End Page
142 / 144
Location
United States
Related Subject Headings
- Muscle Hypotonia
- Infant
- Humans
- Glycogen Storage Disease Type II
- Genetics & Heredity
- Female
- Enzyme Replacement Therapy
- Child, Preschool
- Anal Canal
- 3202 Clinical sciences
Citation
APA
Chicago
ICMJE
MLA
NLM
Tan, Q.-G., Cheah, S. M., Dearmey, S. M., & Kishnani, P. S. (2013). Low anal sphincter tone in infantile-onset Pompe Disease: an emerging clinical issue in enzyme replacement therapy patients requiring special attention. Mol Genet Metab, 108(2), 142–144. https://doi.org/10.1016/j.ymgme.2012.11.013
Tan, Queenie K-G, Sue Mei Cheah, Stephanie M. Dearmey, and Priya S. Kishnani. “Low anal sphincter tone in infantile-onset Pompe Disease: an emerging clinical issue in enzyme replacement therapy patients requiring special attention.” Mol Genet Metab 108, no. 2 (February 2013): 142–44. https://doi.org/10.1016/j.ymgme.2012.11.013.
Tan QK-G, Cheah SM, Dearmey SM, Kishnani PS. Low anal sphincter tone in infantile-onset Pompe Disease: an emerging clinical issue in enzyme replacement therapy patients requiring special attention. Mol Genet Metab. 2013 Feb;108(2):142–4.
Tan, Queenie K. G., et al. “Low anal sphincter tone in infantile-onset Pompe Disease: an emerging clinical issue in enzyme replacement therapy patients requiring special attention.” Mol Genet Metab, vol. 108, no. 2, Feb. 2013, pp. 142–44. Pubmed, doi:10.1016/j.ymgme.2012.11.013.
Tan QK-G, Cheah SM, Dearmey SM, Kishnani PS. Low anal sphincter tone in infantile-onset Pompe Disease: an emerging clinical issue in enzyme replacement therapy patients requiring special attention. Mol Genet Metab. 2013 Feb;108(2):142–144.
Published In
Mol Genet Metab
DOI
EISSN
1096-7206
Publication Date
February 2013
Volume
108
Issue
2
Start / End Page
142 / 144
Location
United States
Related Subject Headings
- Muscle Hypotonia
- Infant
- Humans
- Glycogen Storage Disease Type II
- Genetics & Heredity
- Female
- Enzyme Replacement Therapy
- Child, Preschool
- Anal Canal
- 3202 Clinical sciences