Associated Papers
Trans-ancestral rare variant association study with machine learning-based phenotyping for metabolic dysfunction-associated steatotic liver disease.
Chen R et al.
Genome Biology, 2025
Identification and characterisation of a rare MTTP variant underlying hereditary non-alcoholic fatty liver disease.
Grove JI et al.
Jhep Reports : Innovation in Hepatology, 2023
Current Diagnosis and Management of Abetalipoproteinemia.
Takahashi M et al.
Journal of Atherosclerosis and Thrombosis, 2021
A novel p.Gly417Valfs*12 mutation in the MTTP gene causing abetalipoproteinemia: Presentation of the first patient in Mexico and analysis of the previously reported cases.
Rodríguez Gutiérrez PG et al.
Journal of Clinical Laboratory Analysis, 2021
Targeting microsomal triglyceride transfer protein and lipoprotein assembly to treat homozygous familial hypercholesterolemia.
Walsh MT et al.
Critical Reviews in Clinical Laboratory Sciences, 2017
An atypical case of abetalipoproteinaemia with severe fatty liver in the absence of steatorrhoea or acanthocytosis.
Sakamoto O et al.
European Journal of Pediatrics, 2006
Abetalipoproteinemia Due to a Novel Splicing Variant in MTTP in 3 Siblings.
Vlasschaert C et al.
Journal of Investigative Medicine High Impact Case Reports, 0
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