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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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| Vydáno v: | JIMD Rep |
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| Hlavní autoři: | , , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Springer Berlin Heidelberg
2017
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| Témata: | |
| On-line přístup: | 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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