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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Detalles Bibliográficos
Autores principales: Fazeli, Walid, Karakaya, Mert, Herkenrath, Peter, Vierzig, Anne, Dötsch, Jörg, von Kleist-Retzow, Jürgen-Christoph, Cirak, Sebahattin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2016
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4912540/
https://www.ncbi.nlm.nih.gov/pubmed/27317552
http://dx.doi.org/10.1186/s40348-016-0050-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4912540/
https://www.ncbi.nlm.nih.gov/pubmed/27317552
http://dx.doi.org/10.1186/s40348-016-0050-x

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