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Article

Late Onset Pompe's Disease: Clinical, Pathological & Molecular Analysis of Two Adolescent Patients.

The Journal of the Association of Physicians of India - 1 Jan 2023

Parameswaran Arun Sree, Singh, Saini Lokesh, Aggarwal Divya

Abstract excerpt

INTRODUCTION: The estimated global prevalence of late onset Pompe's disease is 1/57000 live birth(1). We present the case of two patients diagnosed to have Pompe's disease with a rare association of cardiomyopathy. MATERIALS: Two siblings born out of non consanguineous marriage presented with proximal myopathy of 5 years duration. Patient 1 - 19 year female, there was atrophy and weakness of face, neck, girdle...

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PMID: 37116048

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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