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Mendeliome sequencing enables differential diagnosis and treatment of neonatal lactic acidosis
BACKGROUND: Neonatal lactic acidosis can be associated to severe inborn errors of metabolism. Rapid identification of the underlying disorder may improve the clinical management through reliable counseling of the parents and adaptation of the treatment. METHODS: We present the case of a term newborn...
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| Publicado no: | Mol Cell Pediatr |
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| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Springer Berlin Heidelberg
2016
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4912540/ https://ncbi.nlm.nih.gov/pubmed/27317552 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40348-016-0050-x |
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