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Deoxyguanosine kinase deficiency and recurrent spontaneous pneumothorax: a case report

BACKGROUND: Deoxyguanosine kinase deficiency is mainly manifested by hepatic and neurological damage, hence it belongs to the hepatocerebral form of mitochondrial deoxyribonucleic acid depletion syndrome. The association between deoxyguanosine kinase deficiency and recurrent spontaneous pneumothorax...

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Detalles Bibliográficos
Autores principales: Ramboux, Alice, Poncelet, Alain, Clapuyt, Philippe, Scheers, Isabelle, Sokal, Etienne, Reding, Raymond, Stephenne, Xavier
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10543300/
https://www.ncbi.nlm.nih.gov/pubmed/37775787
http://dx.doi.org/10.1186/s13256-023-04151-1