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Kearns-Sayre syndrome presenting as isolated growth failure

Failure to thrive arises from a heterogeneous group of paediatric disorders including defects in energy metabolism such as mitochondrial diseases. Illustrating this, we describe a girl with poor growth who eluded diagnosis until she developed characteristics of Kearns-Sayre syndrome. Her history emp...

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Hlavní autoři: Holloman, Conisha Mone, Wolfe, Lynne A, Gahl, William A, Boerkoel, Cornelius F
Médium: Artigo
Jazyk:Inglês
Vydáno: BMJ Publishing Group 2013
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3604337/
https://ncbi.nlm.nih.gov/pubmed/23420719
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2012-007272
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