Abetalipoproteinemia
What's New
Last Posted: Mar 08, 2023
- Postprandial lipid absorption in seven heterozygous carriers of deleterious variants of MTTP in two abetalipoproteinemic families.
Di Filippo Mathilde, et al. Journal of clinical lipidology 2018 0 (1) 201-212 - 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.
Blanco-Vaca Francisco, et al. Atherosclerosis 2019 0 52-60 - Identification of novel APOB mutations by targeted next-generation sequencing for the molecular diagnosis of familial hypobetalipoproteinemia.
Rimbert Antoine, et al. Atherosclerosis 2016 4 52-56 - MTTP-297H polymorphism reduced serum cholesterol but increased risk of non-alcoholic fatty liver disease-a cross-sectional study.
Hsiao Pi-Jung, et al. BMC medical genetics 2015 0 (1) 93 - Abetalipoproteinemia and homozygous hypobetalipoproteinemia: a framework for diagnosis and management.
- Abetalipoproteinemia
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Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 21, 2024
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