Unusual Presentation of Atypical Infantile Pompe Disease in the Newborn Period with Left Ventricular Hypertrophy
Pompe disease, also known as glycogen storage disease Type II, is a lysosomal storage disorder caused by α-glucosidase deficiency. In general, the clinical spectrum varies with respect to the age of onset, residual enzyme activity and organ involvement. Infantile onset disease has two subtypes: cl...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
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JCDR Research and Publications Private Limited
2017-05-01
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| Series: | Journal of Clinical and Diagnostic Research |
| Subjects: | |
| Online Access: | https://jcdr.net/articles/PDF/9849/20756_CE[Ra1]_F(DK)_PF1(RB_RK)_PFA(RB_SS).pdf |