Familial Lcat Deficiency
What's New
Last Posted: Mar 03, 2023
- Identification and functional analysis of missense mutations in the lecithin cholesterol acyltransferase gene in a Chilean patient with hypoalphalipoproteinemia.
Tobar Hugo E, et al. Lipids in health and disease 2019 0 (1) 132 - Familial lecithin-cholesterol acyltransferase deficiency: If so rare, why so frequent in the state of Piauí, northeastern Brazil?
de Serpa Brandão Rafael Melo Santos, et al. Molecular genetics and metabolism reports 2022 0 100840 - Plasma FA composition in familial LCAT deficiency indicates SOAT2-derived cholesteryl ester formation in humans.
Pavanello Chiara, et al. Journal of lipid research 2022 0 (7) 100232 - Familial LCAT deficiency
From NCATS Genetic and Rare Diseases Information Center
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
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