Diagnosis, Treatment, and Clinical Outcome of Patients with Mitochondrial Trifunctional Protein/Long-Chain 3-Hydroxy Acyl-CoA Dehydrogenase Deficiency

Deficiency of the mitochondrial trifunctional protein (TFP) and long-chain 3-Hydroxy Acyl-CoA dehydrogenase (LCHAD) impairs long-chain fatty acid oxidation and presents with hypoglycemia, cardiac, liver, eye, and muscle involvement. Without treatment, both conditions can be life-threatening. These d...

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Detalhes bibliográficos
Publicado no:JIMD Rep
Main Authors: De Biase, Irene, Viau, Krista S., Liu, Aiping, Yuzyuk, Tatiana, Botto, Lorenzo D., Pasquali, Marzia, Longo, Nicola
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2016
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5388644/
https://ncbi.nlm.nih.gov/pubmed/27117294
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2016_558
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