当前位置： SCI文献检索 > MOLECULAR GENETICS AND METABOLISM期刊下所有文献 > Low anal sphincter tone in infantile-onset Pompe Disease: an emerging clinical issue in enzyme replacement therapy patients requiring special attention.

Low anal sphincter tone in infantile-onset Pompe Disease: an emerging clinical issue in enzyme replacement therapy patients requiring special attention.

Abstract：

: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.

journal_name

Mol Genet Metab

journal_title

Molecular genetics and metabolism

authors

Tan QK,Cheah SM,Dearmey SM,Kishnani PS

doi

10.1016/j.ymgme.2012.11.013

subject

Has Abstract

pub_date

2013-02-01 00:00:00

pages

142-4

issue

2

eissn

1096-7192

issn

1096-7206

pii

S1096-7192(12)00442-8

journal_volume

108

pub_type

杂志文章

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