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Treatable massive pericardial effusion and hypertrophic cardiomyopathy in an infant with a novel homozygous ACADVL mutation: A case report

RATIONALE: Infantile-onset hypertrophic cardiomyopathy (HCMP) should be considered a largely genetic condition, although its onset is most often triggered by infection. Very long chain acyl-CoA dehydrogenase (VLCAD) deficiency is a rare autosomal recessive inborn error of mitochondrial fatty acid β-...

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Detalles Bibliográficos
Autores principales: Kim, Yoo-Mi, Kim, Geena, Ko, Hoon, Yoo, Han-Wook, Lee, Hyoung Doo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5976315/
https://www.ncbi.nlm.nih.gov/pubmed/29768383
http://dx.doi.org/10.1097/MD.0000000000010813