Disease: Homozygous hypobetalipoproteinemia
- <em>APOB</em> CRISPR-Cas9 Engineering in Hypobetalipoproteinemia: A Promising Tool for Functional Studies of Novel Variants
- A gene-targeted mouse model for familial hypobetalipoproteinemia. Low levels of apolipoprotein B mRNA in association with a nonsense mutation in exon 26 of the apolipoprotein B gene
- A novel mutation of apolipoprotein B in a French Canadian family with homozygous hypobetalipoproteinemia
- A tale of 2 cousins: An atypical and a typical case of abetalipoproteinemia
- A targeted apolipoprotein B-38.9-producing mutation causes fatty livers in mice due to the reduced ability of apolipoprotein B-38.9 to transport triglycerides
- A transposable element insertion in APOB causes cholesterol deficiency in Holstein cattle
- A truncated species of apolipoprotein B (B-38.7) in a patient with homozygous hypobetalipoproteinemia associated with diabetes mellitus
- A-beta-lipoproteinemia: clinical and laboratory features, therapeutic manipulations, and follow-up study of three members of a Greek family
- Abetalipoproteinemia and homozygous hypobetalipoproteinemia: a framework for diagnosis and management
- Abetalipoproteinemia caused by maternal isodisomy of chromosome 4q containing an intron 9 splice acceptor mutation in the microsomal triglyceride transfer protein gene
- Abetalipoproteinemia Due to a Novel Splicing Variant in <em>MTTP</em> in 3 Siblings
- Abetalipoproteinemia in an infant with severe clinical phenotype and a novel mutation
- Abetalipoproteinemia in Israel: evidence for a founder mutation in the Ashkenazi Jewish population and a contiguous gene deletion in an Arab patient
- Acanthocytosis and the c.680 A>G Mutation in the PANK2 Gene: A Study Enrolling a Cohort of PKAN Patients from the Dominican Republic
- Acanthocytosis in a patient with homozygous familial hypobetalipoproteinemia due to a novel APOB splice site mutation
- An Infant with Chronic Diarrhoea and Failure to Thrive: Familial Hypobetalipoproteinemia
- Angptl3 deficiency is associated with increased insulin sensitivity, lipoprotein lipase activity, and decreased serum free fatty acids
- APOB CRISPR-Cas9 Engineering in Hypobetalipoproteinemia: A Promising Tool for Functional Studies of Novel Variants
- Apolipoprotein B gene mutations and fatty liver in Japanese hypobetalipoproteinemia
- Assessment of tocopherol metabolism and oxidative stress in familial hypobetalipoproteinemia
- Characterization of three kindreds with familial combined hypolipidemia caused by loss-of-function mutations of ANGPTL3
- Chylomicron retention disease caused by SAR1B gene variations in 2 cases and literatures review
- Chylomicron retention disease: report of two cases from a Greek Island
- Clinical and biochemical characteristics of individuals with low cholesterol syndromes: A comparison between familial hypobetalipoproteinemia and familial combined hypolipidemia
- Clinical characteristics and plasma lipids in subjects with familial combined hypolipidemia: a pooled analysis
- Clinical characterization of a case with familial hypobetalipoproteinemia caused by apo B-76, a new truncation of apolipoprotein B, combined with apo E2/E2 phenotype
- Clinical features and molecular genetics of two Tunisian families with abetalipoproteinemia
- Clinical quiz
- Clinical studies of pediatric malabsorption syndromes
- Common and rare gene variants affecting plasma LDL cholesterol
- Comparison of apolipoprotein B metabolism in familial defective apolipoprotein B and heterogeneous familial hypercholesterolemia
- Complex genetic architecture in severe hypobetalipoproteinemia
- Contemporary aspects of the biology and therapeutic regulation of the microsomal triglyceride transfer protein
- Current Diagnosis and Management of Familial Hypobetalipoproteinemia 1
- Dysmorphic findings in two cases of abeta/hypobetalipoproteinemia
- Effects of angiopoietin-like protein 3 deficiency on postprandial lipid and lipoprotein metabolism
- Exon skipping of hepatic APOB pre-mRNA with splice-switching oligonucleotides reduces LDL cholesterol in vivo
- Extreme Contrast of Postprandial Remnant-Like Particles Formed in Abetalipoproteinemia and Homozygous Familial Hypobetalipoproteinemia
- Familial defective apolipoprotein B-100
- Familial defective apolipoprotein B-100: a lesson from homozygous and heterozygous patients
- Familial hypobetalipoproteinemia
- Familial hypobetalipoproteinemia caused by homozygous loss-of-function mutations in PCSK9: A case report
- Familial hypobetalipoproteinemia secondary to a mutation in the apolipoprotein B gene
- Familial hypobetalipoproteinemia: Report of a family and review of Spanish contributions
- Fat accumulation in enterocytes: a key to the diagnosis of abetalipoproteinemia or homozygous hypobetalipoproteinemia
- Forty year follow-up of three patients with complete absence of apolipoprotein B-containing lipoproteins
- Four novel mutations in APOB causing heterozygous and homozygous familial hypobetalipoproteinemia
- Genetically determined deficiency of ANGPTL3 does not alter HDL ability to preserve endothelial homeostasis
- Genomic analysis of lean individuals with NAFLD identifies monogenic disorders in a prospective cohort study
- Guidance for the diagnosis and treatment of hypolipidemia disorders
- HARP syndrome is allelic with pantothenate kinase-associated neurodegeneration
- Hepatic fatty acid synthesis is suppressed in mice with fatty livers due to targeted apolipoprotein B38.9 mutation
- Hepatosteatosis with hypobetalipoproteinemia
- Homozygous familial hypobetalipoproteinemia caused by APOB gene variations: a case report and review of literature
- Homozygous familial hypobetalipoproteinemia: A Turkish case carrying a missense mutation in apolipoprotein B
- Homozygous familial hypobetalipoproteinemia: two novel mutations in the splicing sites of apolipoprotein B gene and review of the literature
- Homozygous MTTP and APOB mutations may lead to hepatic steatosis and fibrosis despite metabolic differences in congenital hypocholesterolemia
- How ANGPTL3 Inhibition Will Help Our Clinical Practice?
- Hypobetalipoproteinemia and abetalipoproteinemia
- Hypobetalipoproteinemia: genetics, biochemistry, and clinical spectrum
- Identification of a haplotype associated with cholesterol deficiency and increased juvenile mortality in Holstein cattle
- Identification of a novel mutation of MTP gene in a patient with abetalipoproteinemia
- Identification of patients with abetalipoproteinemia and homozygous familial hypobetalipoproteinemia in Tunisia
- Idiopathic thrombocytopenic purpura and hypokalaemic dRTA with compensated haemolysis and striking acanthocytosis in a band 3 (SLC4A1/AE1) A858D homozygote
- Ileal adenocarcinoma in a mild phenotype of abetalipoproteinemia
- Impaired Cytoskeletal and Membrane Biophysical Properties of Acanthocytes in Hypobetalipoproteinemia - A Case Study
- Inhibitory effects of in vivo oxidized high-density lipoproteins on platelet aggregation: evidence from patients with abetalipoproteinemia
- Knockout of the abetalipoproteinemia gene in mice: reduced lipoprotein secretion in heterozygotes and embryonic lethality in homozygotes
- Lack of MTTP Activity in Pluripotent Stem Cell-Derived Hepatocytes and Cardiomyocytes Abolishes apoB Secretion and Increases Cell Stress
- LC-MS-based method for the qualitative and quantitative analysis of complex lipid mixtures
- Liver-specific inactivation of the abetalipoproteinemia gene completely abrogates very low density lipoprotein/low density lipoprotein production in a viable conditional knockout mouse
- Long-term assessment of combined vitamin A and E treatment for the prevention of retinal degeneration in abetalipoproteinaemia and hypobetalipoproteinaemia patients
- Low cholesterol states: clinical implications and management
- Low cholesterol syndrome and drug development
- Missense mutation Q384K in the APOB gene affecting the large lipid transfer module of apoB reduces the secretion of apoB-100 in the liver without reducing the secretion of apoB-48 in the intestine
- Molecular analysis of APOB, SAR1B, ANGPTL3, and MTTP in patients with primary hypocholesterolemia in a clinical laboratory setting: Evidence supporting polygenicity in mutation-negative patients
- Molecular characterization of Tunisian families with abetalipoproteinemia and identification of a novel mutation in MTTP gene
- Mutations in MTP gene in abeta- and hypobeta-lipoproteinemia
- New lipid modulating drugs: the role of microsomal transport protein inhibitors
- Normal plasma apoB48 despite the virtual absence of apoB100 in a compound heterozygote with novel mutations in the MTTP gene
- Novel <em>MTTP</em> Gene Mutation in a Case of Abetalipoproteinemia with Central Hypothyroidism
- Novel APOB missense variants, A224T and V925L, in a black South African woman with marked hypocholesterolemia
- Novel mutations in abetalipoproteinaemia and homozygous familial hypobetalipoproteinaemia
- Novel mutations in SAR1B and MTTP genes in Tunisian children with chylomicron retention disease and abetalipoproteinemia
- Novel mutations in the microsomal triglyceride transfer protein gene causing abetalipoproteinemia
- Novel mutations of SAR1B gene in four children with chylomicron retention disease
- Prevalence of ANGPTL3 and APOB gene mutations in subjects with combined hypolipidemia
- Rare primary dyslipidaemias associated with low LDL and HDL cholesterol values in Portugal
- Recurrent Lobar Hemorrhages and Multiple Cortical Superficial Siderosis in a Patient of Alzheimer's Disease With Homozygous APOE epsilon2 Allele Presenting Hypobetalipoproteinemia and Pathological Findings of (18)F-THK5351 Positron Emission Tomograph
- Recurrent Lobar Hemorrhages and Multiple Cortical Superficial Siderosis in a Patient of Alzheimer's Disease With Homozygous APOE ε2 Allele Presenting Hypobetalipoproteinemia and Pathological Findings of <sup>18</sup>F-THK5351 Positron Emi
- Sar1b mutant mice recapitulate gastrointestinal abnormalities associated with chylomicron retention disease
- SIL1 and SARA2 mutations in Marinesco-Sjögren and chylomicron retention diseases
- SPG11 mutation in a Turkish familial hypobetalipoproteinemia family with hereditary spastic paraplegia
- The c.419-420insA in the MTP gene is associated with abetalipoproteinemia among French-Canadians
- The first Japanese case with familial combined hypolipidemia without any complications caused by loss-of function variants in <em>ANGPTL3</em>: Case report
- The Janus-faced manifestations of homozygous familial hypobetalipoproteinemia due to apolipoprotein B truncations
- Unusual presentation of three siblings with familial heterozygous hypobetalipoproteinaemia
- Update on primary hypobetalipoproteinemia
- Variable phenotypic expression of homozygous familial hypobetalipoproteinaemia due to novel APOB gene mutations
- Vitamin E and oxidative stress in abetalipoproteinemia and familial hypobetalipoproteinemia