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Neonatal Carnitine Palmitoyltransferase II Deficiency: A Lethal Entity

Carnitine palmitoyltransferase II (CPTII) deficiency is a rare disorder of mitochondrial fatty acid oxidation with autosomal recessive mode of inheritance. Three classic forms of CPT II deficiency have been described namely the lethal neonatal form, severe infantile hepatocardiomuscular form and the...

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Detalhes bibliográficos
Publicado no:J Clin Diagn Res
Main Authors: Malik, Sushma, Paldiwal, Ashutosh Abhimanyu, Korday, Charusheela Sujit, Jadhav, Shruti Sudhir
Formato: Artigo
Idioma:Inglês
Publicado em: JCDR Research and Publications (P) Limited 2015
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4625305/
https://ncbi.nlm.nih.gov/pubmed/26557586
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7860/JCDR/2015/13600.6560
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