Novel Mutation in the Feline <i>GAA</i> Gene in a Cat with Glycogen Storage Disease Type II (Pompe Disease)

Novel Mutation in the Feline <i>GAA</i> Gene in a Cat with Glycogen Storage Disease Type II (Pompe Disease)

Glycogen storage disease type II (Pompe disease: PD) is an autosomal recessively inherited fatal genetic disorder that results from the deficiency of a glycogen hydrolyzing enzyme, acid α-glucosidase encoded by the <i>GAA</i> gene. Here, we describe the molecular basis of genetic defects...

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Bibliographic Details
Main Authors: Tofazzal Md Rakib, Md Shafiqul Islam, Shigeki Tanaka, Akira Yabuki, Shahnaj Pervin, Shinichiro Maki, Abdullah Al Faruq, Martia Rani Tacharina, Osamu Yamato
Format: Article
Language:English
Published: MDPI AG 2023-04-01
Series:Animals
Subjects:
Pompe disease
<i>GAA</i> gene
lysosomal disease
glycogen storage disease type II
cat
Online Access:https://www.mdpi.com/2076-2615/13/8/1336

Internet

https://www.mdpi.com/2076-2615/13/8/1336

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