Familial Hypobetalipoproteinemia Latest Advances

LDLR-3'UTR Deletions Identified as a Genetic Cause of Hypobetalipoproteinemia: Evidence From Familial and Population-Based Studies.

Journal: Arteriosclerosis, thrombosis, and vascular biology

Published: June 04, 2026

Primary hypobetalipoproteinemia as a specific etiology of steatotic liver disease: A meta-analysis.

Journal: Clinics and research in hepatology and gastroenterology

Published: April 19, 2026

Genetic dyslipidemias.

Journal: Annales d'endocrinologie

Published: March 22, 2026

Familial hypobetalipoproteinemia in pediatric patients with fatty liver: an under-recognized cause.

Journal: Frontiers in medicine

Published: October 08, 2025

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.

Journal: American journal of hematology

Published: June 20, 2025

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.

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.

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.

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.

Journal: Atherosclerosis

Published: March 23, 2025

Evaluation of Patients Diagnosed with Inherited Metabolic Diseases in Adulthood.

Journal: Sisli Etfal Hastanesi tip bulteni

Published: March 07, 2025

Familial Hypobetalipoproteinemia Latest Advances

Find the Latest Research About Familial Hypobetalipoproteinemia

LDLR-3'UTR Deletions Identified as a Genetic Cause of Hypobetalipoproteinemia: Evidence From Familial and Population-Based Studies.

LDLR-3'UTR Deletions Identified as a Genetic Cause of Hypobetalipoproteinemia: Evidence From Familial and Population-Based Studies.

Primary hypobetalipoproteinemia as a specific etiology of steatotic liver disease: A meta-analysis.

Primary hypobetalipoproteinemia as a specific etiology of steatotic liver disease: A meta-analysis.

Genetic dyslipidemias.

Genetic dyslipidemias.

Familial hypobetalipoproteinemia in pediatric patients with fatty liver: an under-recognized cause.

Familial hypobetalipoproteinemia in pediatric patients with fatty liver: an under-recognized cause.

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

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

Acanthocytosis Contributes to the Diagnosis of the McLeod Syndrome.

Acanthocytosis Contributes to the Diagnosis of the McLeod Syndrome.

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.

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.

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.

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.

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.

Evaluation of Patients Diagnosed with Inherited Metabolic Diseases in Adulthood.

Evaluation of Patients Diagnosed with Inherited Metabolic Diseases in Adulthood.