Articles with "mulibrey nanism" as a keyword



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Liver pathology and biochemistry in patients with mutations in TRIM37 gene (Mulibrey nanism)

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Published in 2022 at "Liver International"

DOI: 10.1111/liv.15213

Abstract: 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… read more here.

Keywords: mulibrey nanism; pathology; mutations trim37; biochemistry ... See more keywords
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The Importance of Early Pericardiectomy in Mulibrey Nanism Syndrome, a Case Report

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Published in 2022 at "Journal of Investigative Medicine High Impact Case Reports"

DOI: 10.1177/23247096221077816

Abstract: Mulibrey (Muscle-Liver-Brain-Eye) Nanism syndrome is an extremely rare genetic disorder with multiorgan involvement. Constrictive pericarditis and diastolic dysfunction are the most common causes of mortality. We present a case of a patient with Mulibrey nanism… read more here.

Keywords: importance early; pericardiectomy; nanism syndrome; mulibrey nanism ... See more keywords