Primary coenzyme Q(10) deficiency presenting as fatal neonatal multiorgan failure

Coenzyme Q(10) deficiency is a clinically and genetically heterogeneous disorder, with manifestations that may range from fatal neonatal multisystem failure, to adult-onset encephalopathy. We report a patient who presented at birth with severe lactic acidosis, proteinuria, dicarboxylic aciduria, and...

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Detalles Bibliográficos
Autores principales: Desbats, Maria Andrea, Vetro, Annalisa, Limongelli, Ivan, Lunardi, Giada, Casarin, Alberto, Doimo, Mara, Spinazzi, Marco, Angelini, Corrado, Cenacchi, Giovanna, Burlina, Alberto, Rodriguez Hernandez, Maria Angeles, Chiandetti, Lino, Clementi, Maurizio, Trevisson, Eva, Navas, Placido, Zuffardi, Orsetta, Salviati, Leonardo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2015
Materias:
Short Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4430297/
https://www.ncbi.nlm.nih.gov/pubmed/25564041
http://dx.doi.org/10.1038/ejhg.2014.277

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4430297/
https://www.ncbi.nlm.nih.gov/pubmed/25564041
http://dx.doi.org/10.1038/ejhg.2014.277

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