Article
Liver pathology and biochemistry in patients with mutations in TRIM37 gene (Mulibrey nanism).
Liver international : official journal of the International Association for the Study of the Liver - 1 Jun 2022
Sivunen Johanna, Karlberg Susann, Kivisaari Reetta, Lohi Jouko, Karlberg Niklas, Jokinen Eero, Sarkola Taisto, Jahnukainen Timo, Lipsanen-Nyman Marita, Jalanko Hannu
Abstract excerpt
BACKGROUND AND AIMS: Mulibrey nanism (MUL) is a multiorgan disease caused by recessive mutations in the TRIM37 gene. Chronic heart failure and hepatopathy are major determinants of prognosis in MUL patients, which prompted us to study liver biochemistry and pathology in a national cohort of MUL patients. METHODS: Clinical, laboratory and imaging data were collected in a cross-sectional survey and retrospectively...
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