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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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Publicat a:JIMD Rep
Autors principals: Bursle, C., Weintraub, R., Ward, C., Justo, R., Cardinal, J., Coman, D.
Format: Artigo
Idioma:Inglês
Publicat: Springer Berlin Heidelberg 2017
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Accés en línia: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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