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Mitochondrial Trifunctional Protein Deficiency: Severe Cardiomyopathy and Cardiac Transplantation

We describe mitochondrial trifunctional protein deficiency (MTPD) in two male siblings who presented with severe cardiomyopathy in infancy. The first sibling presented in severe cardiac failure at 6 months of age and succumbed soon after. The second sibling came to attention after newborn screening...

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Detalhes bibliográficos
Publicado no:JIMD Rep
Main Authors: Bursle, C., Weintraub, R., Ward, C., Justo, R., Cardinal, J., Coman, D.
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2017
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6122028/
https://ncbi.nlm.nih.gov/pubmed/29124685
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2017_68
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