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Successful heart transplantation in a patient with adolescent-onset dilated cardiomyopathy secondary to propionic acidaemia: a case report

BACKGROUND: Propionic acidaemia (PA) is an autosomal recessive disorder resulting from deficiency of propionyl-CoA carboxylase, a mitochondrial enzyme that metabolizes propionyl-CoA. Generally, patients with PA develop symptoms in the neonatal period due to protein intake through breastfeeding; howe...

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Detalles Bibliográficos
Autores principales: Seguchi, Osamu, Toda, Koichi, Hamada, Yusuke, Fujita, Tomoyuki, Fukushima, Norihide
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9174551/
https://www.ncbi.nlm.nih.gov/pubmed/35685030
http://dx.doi.org/10.1093/ehjcr/ytac202