Familial Hypobetalipoproteinemia Latest Advances

Find the Latest Research About Familial Hypobetalipoproteinemia

Last Updated: 04/28/2026

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Found 1010 publications

Genetic dyslipidemias.

Genetic dyslipidemias.

Journal: Annales d'endocrinologie
Published: March 22, 2026

Identification of a novel apoB variant in a family exhibiting hypocholesterolemia: Mechanistic insights.

Identification of a novel apoB variant in a family exhibiting hypocholesterolemia: Mechanistic insights.

Journal: Journal of clinical lipidology
Published: December 15, 2025

Familial hypercholesterolemia concealed by a protein-truncating variant of PCSK9.

Familial hypercholesterolemia concealed by a protein-truncating variant of PCSK9.

Journal: Journal of clinical lipidology
Published: December 15, 2025

Current and Emerging Issues in Familial Hypobetalipoproteinemia-related Steatotic Liver Diseases.

Current and Emerging Issues in Familial Hypobetalipoproteinemia-related Steatotic Liver Diseases.

Journal: Journal of clinical and translational hepatology
Published: July 19, 2025

Acanthocytosis Contributes to the Diagnosis of the McLeod Syndrome.

Acanthocytosis Contributes to the Diagnosis of the McLeod Syndrome.

Journal: American journal of hematology
Published: June 20, 2025

Adipose microsomal triglyceride transfer protein deficiency protects against hepatic steatosis by upregulating PPARα activity.

Adipose microsomal triglyceride transfer protein deficiency protects against hepatic steatosis by upregulating PPARα activity.

Journal: JHEP reports : innovation in hepatology
Published: June 17, 2025

Novel loss-of-function mutations in VPS13A cause chorea-acanthocytosis in two families.

Novel loss-of-function mutations in VPS13A cause chorea-acanthocytosis in two families.

Journal: Frontiers in neurology
Published: June 09, 2025

Thirty-Three Years Follow-Up of a Greek Family with Abetalipoproteinemia: Absence of Liver Damage on Long-Term Medium Chain Triglycerides Supplementation.

Thirty-Three Years Follow-Up of a Greek Family with Abetalipoproteinemia: Absence of Liver Damage on Long-Term Medium Chain Triglycerides Supplementation.

Journal: Journal of personalized medicine
Published: May 12, 2025

Evaluation of Pathogenic Variants Associated With Monogenic Disorders of Dyslipidemia in Patients With Well Characterised MASLD.

Evaluation of Pathogenic Variants Associated With Monogenic Disorders of Dyslipidemia in Patients With Well Characterised MASLD.

Journal: Liver international : official journal of the International Association for the Study of the Liver
Published: May 07, 2025

Synergic combination of the monogenic ANGPTL3 p.H343R variant and a polygenic predisposition in a family with hypobetalipoproteinemia.

Synergic combination of the monogenic ANGPTL3 p.H343R variant and a polygenic predisposition in a family with hypobetalipoproteinemia.

Journal: Atherosclerosis
Published: March 23, 2025

Evaluation of Patients Diagnosed with Inherited Metabolic Diseases in Adulthood.

Evaluation of Patients Diagnosed with Inherited Metabolic Diseases in Adulthood.

Journal: Sisli Etfal Hastanesi tip bulteni
Published: March 07, 2025

Pathological features of non-alcoholic steatohepatitis in a pediatric patient with heterozygous familial hypobetalipoproteinemia: A case report.

Pathological features of non-alcoholic steatohepatitis in a pediatric patient with heterozygous familial hypobetalipoproteinemia: A case report.

Journal: World journal of hepatology
Published: November 18, 2024
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Last Updated: 04/28/2026