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Interplay between mitochondrial dysfunction and lysosomal storage: challenges in genetic metabolic muscle diseases with a focus on infantile onset Pompe disease

Frontiers in Cardiovascular Medicine

Background Pompe disease (PD) is a rare, progressive autosomal recessive lysosomal storage disorder that directly impacts mitochondrial function, leading to structural abnormalities and potentially culminating in heart failure or cardiogenic shock. Further genetic testing identified a homozygous mutation c.2662G>T

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Published Research

Society of Thoracic Surgeons - Research

Published Research kschukar Thu, 04/20/2023 - 11:12 Recently published (2016 – present) manuscripts utilizing STS data: Adult Cardiac Surgery, General Thoracic Surgery, Congenital Heart Surgery, and Intermacs/Pedimacs.

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Published Research

Society of Thoracic Surgeons - Research

Institutional Coronary Artery Bypass Case Volumes and Outcomes European Journal of Heart Failure October 2023 Makoto Mori 1 Robotic Mitral Valve Repair for Degenerative Mitral Regurgitation The Annals of Thoracic Surgery August 2023 Carlos Diaz-Castrillion 2 Volume-Failure to Rescue Relationship in Acute Type A Aortic Dissections: An Analysis of The (..)