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Fetal Fatty Acid Oxidation Disorders, Their Effect on Maternal Health and Neonatal Outcome: Impact of Expanded Newborn Screening on Their Diagnosis and Management
Mitochondrial fatty acid oxidation disorders (FAOD) are recessively inherited errors of metabolism. Newborns with FAOD typically present with hypoketotic hypoglycemia, metabolic acidosis, hepatic failure, and cardiomyopathy. Late presentations include episodic myopathy, neuropathy, retinopathy, and...
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Main Authors: | , , |
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Formato: | Artigo |
Idioma: | Inglês |
Publicado em: |
2005
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Assuntos: | |
Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3582391/ https://ncbi.nlm.nih.gov/pubmed/15817498 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1203/01.PDR.0000159631.63843.3E |
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