Article

Pantethine ameliorates dilated cardiomyopathy features in PPCS deficiency disorder: evidence from patients and models of the disease

2024-08-22

Abstract excerpt

<title>Abstract</title> <p>Background PPCS deficiency disorder (PPCS DD) is an ultra-rare, autosomal recessive form of dilated cardiomyopathy (DCM) caused by pathogenic variants in <italic>PPCS</italic>, which encodes the enzyme catalyzing the second step in the coenzyme A (CoA) biosynthesis pathway. To date, only six patients worldwide have been identified. In this study, we report on six additional patients. W...

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Literature Corpus work: f649e842-55d5-5fa0-bc4e-512be516f8cb
DOI: 10.21203/rs.3.rs-4582436/v1

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