Clinical spectrum and genetic causes of mitochondrial hepatopathy phenotype in children

Alterations in both mitochondrial DNA (mtDNA) and nuclear DNA genes affect mitochondria function, causing a range of liver-based conditions termed mitochondrial hepatopathies (MH), which are subcategorized as mtDNA depletion, RNA translation, mtDNA deletion, and enzymatic disorders. We aim to enhanc...

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Detalles Bibliográficos
Autores principales: Squires, James E., Miethke, Alexander G., Valencia, C. Alexander, Hawthorne, Kieran, Henn, Lisa, Van Hove, Johan L.K., Squires, Robert H., Bove, Kevin, Horslen, Simon, Kohli, Rohit, Molleston, Jean P., Romero, Rene, Alonso, Estella M., Bezerra, Jorge A., Guthery, Stephen L., Hsu, Evelyn, Karpen, Saul J., Loomes, Kathleen M., Ng, Vicky L., Rosenthal, Philip, Mysore, Krupa, Wang, Kasper S., Friederich, Marisa W., Magee, John C., Sokol, Ronald J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2023
Materias:
Original ARTICLE
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10187840/
https://www.ncbi.nlm.nih.gov/pubmed/37184518
http://dx.doi.org/10.1097/HC9.0000000000000139

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10187840/
https://www.ncbi.nlm.nih.gov/pubmed/37184518
http://dx.doi.org/10.1097/HC9.0000000000000139

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