Late-Onset Pompe Disease: A Diagnostic Challenge
Pompe disease is an autosomal recessive, lysosomal storage disorder wherein affected individuals are deficient in the lysosomal enzyme acid alpha-glucosidase (acid maltase). Here, we describe a case of a 2-year-old male child, who initially presented at the age of 16 months with complaints of diffic...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
| Published: |
Krishna Vishwa Vidyapeeth (Deemed to be University), Karad
2021-04-01
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| Series: | Journal of Krishna Institute of Medical Sciences University |
| Subjects: | |
| Online Access: | https://www.jkimsu.com/jkimsu-vol10no2/JKIMSU,%20Vol.%2010,%20No.%202,%20April-June%202021%20Page%20146-149.pdf |