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[TRMU MUTATIONS - REVERSIBLE INFANTILE LIVER FAILURE OR MULTISYSTEM DISORDER?]

Harefuah - 1 Jan 2018

Gil-Margolis Merav, Mozer-Glassberg Yael, Tobar Ana, Ashkenazi Shai, Zeharia Avraham, Marom Daphna

Abstract excerpt

INTRODUCTION: Bi-allelic mutations in the TRMU gene cause reversible infantile liver failure. Little is known about extra-hepatic manifestations in these patients. BACKGROUND: Two infants, aged 4 and 5 months, presented with progressive life threatening liver failure, characterized by lactic acidosis, highly elevated alpha-fetoprotein and recurrent hypoglycemia. Both showed significant extra-hepatic findings,...

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Identifiers

PMID: 29374875

Genes

TRMU

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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