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Neonatal presentation of ventricular tachycardia and a Reye-like syndrome episode associated with disturbed mitochondrial energy metabolism
BACKGROUND: Hyperammonemia, hypoglycemia, hepatopathy, and ventricular tachycardia are common presenting features of carnitine-acylcarnitine translocase deficiency (Mendelian Inheritance in Man database: *212138), a mitochondrial fatty acid oxidation disorder with a lethal prognosis. These features...
Autores principales: | Scaglia, Fernando, Scheuerle, Angela E, Towbin, Jeffrey A, Armstrong, Dawna L, Sweetman, Lawrence, Wong, Lee-Jun C |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2002
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC140035/ https://www.ncbi.nlm.nih.gov/pubmed/12507404 http://dx.doi.org/10.1186/1471-2431-2-12 |
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