Article
Steatotic liver disease associated with 2,4-dienoyl-CoA reductase 1 deficiency.
International journal of obesity (2005) - 1 Dec 2024
Kohlmaier Benno, Skok Kristijan, Lackner Carolin, Haselrieder Greta, Müller Thomas, Sailer Sabrina, Zschocke Johannes, Keller Markus A, Knisely A S, Janecke Andreas R
Abstract excerpt
BACKGROUND: Metabolic dysfunction-associated steatotic liver disease (MASLD) is considered multifactorial with a number of predisposing gene polymorphisms known. METHODS: The occurrence of MASLD in 7 and 10 year old siblings, one without classical risk factors and one with type 2 diabetes suggested a monogenic etiology and prompted next-generation sequencing. Exome sequencing was performed in the proband, both...
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