Article
Clinical spectrum and genetic causes of mitochondrial hepatopathy phenotype in children.
Hepatology communications - 1 Jun 2023
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
Abstract excerpt
BACKGROUND: 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 enhance the understanding of pathogenesis and natural history of MH. METHODS: We analyzed data from patients...
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