Diagnosis of LCHAD/TFP deficiency in an at risk newborn using umbilical cord blood acylcarnitine analysis

Trifunctional protein deficiency/Long-chain hydroxyacyl-CoA dehydrogenase deficiency (LCHAD/TFP) deficiency is a disorder of fatty acid oxidation and ketogenesis. Severe neonatal lactic acidosis, cardiomyopathy, and hepatic dysfunction are caused by the accumulation of toxic long-chain acylcarnitine...

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Detalhes bibliográficos
Publicado no:Mol Genet Metab Rep
Main Authors: Raval, Donna B., Cusmano-Ozog, Kristina P., Ayyub, Omar, Jenevein, Callie, Kofman, Laura H., Lanpher, Brendan, Hauser, Natalie, Regier, Debra S.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2016
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5155040/
https://ncbi.nlm.nih.gov/pubmed/27995076
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2016.11.007
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