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COXPD9 an Evolving Multisystem Disease; Congenital Lactic Acidosis, Sensorineural Hearing Loss, Hypertrophic Cardiomyopathy, Cirrhosis and Interstitial Nephritis

We present the second report of combined oxidative phosphorylation deficiency-9. The infant presented in the neonatal period with poor feeding, lactic acidosis and sensorineural hearing loss. He subsequently developed a lethal hypertrophic cardiomyopathy during infancy. Cirrhosis and interstitial ne...

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Detalhes bibliográficos
Publicado no:JIMD Rep
Main Authors: Bursle, C., Narendra, A., Chuk, R., Cardinal, J., Justo, R., Lewis, B., Coman, D.
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2016
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5509545/
https://ncbi.nlm.nih.gov/pubmed/27815843
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2016_13
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