Article

Floppy Infant-A Case Report of Infantile Pompe Disease With Literature Review

2022-04-01

Abstract excerpt

<title>Abstract</title> <p><bold>Background:</bold> Deficiency of acid-α1,4glucosidase results in lysosomal accumulation of glycogen impairing multiple tissue functions i.e., cardiac, skeletal and smooth muscle functions. First described in 1933 by Pompe who identified glycogen by Best carmine in sections of cardiac muscle of an infant who had died of idiopathic cardiac hypertrophy. Hers in 1963 identified the en...

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Literature Corpus work: dade0fe8-594c-5a94-875c-7591dd3a9f8c
DOI: 10.21203/rs.3.rs-1297934/v1

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