phosphatidylcholines has been researched along with Lipid Metabolism, Inborn Error in 58 studies
Timeframe | Studies, this research(%) | All Research% |
---|---|---|
pre-1990 | 48 (82.76) | 18.7374 |
1990's | 2 (3.45) | 18.2507 |
2000's | 2 (3.45) | 29.6817 |
2010's | 5 (8.62) | 24.3611 |
2020's | 1 (1.72) | 2.80 |
Authors | Studies |
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Alatibi, KI; Ausserlechner, MJ; Grünert, SC; Hagenbuchner, J; Karall, D; Schilling, O; Tholen, S; Tucci, S; Vockley, J; Wehbe, Z | 1 |
Castro-Gago, M; Dacruz, D; Eiris-Punal, J; Gomez-Lado, C | 1 |
Alcorn, JF; Beck, ME; Bharathi, SS; Chen, R; Ellis, B; Goetzman, ES; Kagan, VE; Karunanidhi, A; Kosmider, B; Mallampalli, RK; McHugh, KJ; McKinney, RW; Otsubo, C; Skilling, H; Suhrie, KR; Tyurina, YY; Uppala, R; Vockley, J; Yeasted, R; Zuo, YY | 1 |
Adam, T; Correa, ES; Friedecký, D; Gardlo, A; Goodacre, R; Janečková, H; Mádrová, L; Najdekr, L | 1 |
Adams, SH; Gillingham, MB; Knotts, TA; Matern, D; McCoin, CS; Piccolo, BD; Vockley, J | 1 |
Goto-Inoue, N; Hayasaka, T; Holleran, WM; Nakajima, K; Sano, S; Setou, M; Uchida, Y; Zaima, N | 1 |
Blanck, TJ; Kelley, RI; Schlame, M; Xu, Y | 1 |
Oude Elferink, RP; Paulusma, CC | 1 |
Gjone, E; Norum, KR | 4 |
Coleman, RA; Igal, RA | 1 |
Dieker, P; Langer, KH; Menzel, HJ; Utermann, G | 1 |
Boerescu, J; Tănase Mogoş, I | 1 |
Arakawa, K; Ikehara, Y; Nakanishi, T; Ogata, S; Sasaki, J; Takada, Y | 1 |
Mapes, CA; Sweeley, CC | 1 |
Forte, T; Glomset, J; Nichols, A; Norum, K | 1 |
Gompertz, D | 2 |
Clarke, N; Dawson, RM | 1 |
Huterer, S; Wherrett, JR | 1 |
Glomset, JA; Norum, KR | 1 |
Alaupovic, P; Berg, K; Curry, MD; Gjone, E; Magnani, HN; McConathy, WJ; Torsvik, H | 2 |
Ritter, MC; Scanu, AM | 1 |
Lloyd, JK | 1 |
Blomhoff, JP | 1 |
Gjone, E | 1 |
Bjerve, KS; Blomhoff, JP; Flatmark, A; Gjone, E; Norum, KR; Oystese, B; Stokke, KT | 1 |
Calandra, S; McIntyre, N; Pearson, AJ | 1 |
Solaas, MH | 1 |
Albers, J; Applegate, KR; Forte, T; Gjone, E; Glomset, JA; King, WC; Mitchell, CD; Nichols, AV; Norum, KR | 1 |
Blomhoff, JP; Gjone, E; Skarbovik, AJ | 1 |
Langer, KH; Menzel, HJ; Utermann, G | 1 |
Blomhoff, JP; Geisen, HP; Gjone, E; Seidel, D | 1 |
Glomset, JA | 1 |
Shohet, SB | 1 |
Seidel, D | 2 |
Scherer, R | 1 |
Gjone, E; Hovig, T | 2 |
Gjone, E; Teisberg, P | 1 |
Hörven, I | 1 |
Naito, C; Yoshitoshi, Y | 1 |
Adams, GH; Schumaker, VN | 1 |
Clifton-Bligh, P; Nestel, PJ; Whyte, HM | 1 |
Fredrickson, DS | 1 |
Glomset, JA; King, W; Norum, KR | 1 |
Feldman, NI; Klibansky, C; Saifer, A; Schneck, L; Volk, BW | 1 |
Bier, DM; Havel, RJ | 1 |
Forte, T; Glomset, JA; Nichols, AV; Norum, KR | 2 |
Eto, Y; Suzuki, K | 1 |
Galli, C; Re Cecconi Galli, D | 1 |
Gjone, E; Norum, KR; Torsvik, H | 1 |
Gjone, E; Hamnström, B; Norum, KR | 1 |
12 review(s) available for phosphatidylcholines and Lipid Metabolism, Inborn Error
Article | Year |
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Function and pathophysiological importance of ABCB4 (MDR3 P-glycoprotein).
Topics: Animals; ATP Binding Cassette Transporter, Subfamily B; ATP-Binding Cassette Transporters; Bile; Bile Canaliculi; Biological Transport; Cholestasis, Intrahepatic; Disease Models, Animal; Female; Gallstones; Hepatocytes; Humans; Lipid Metabolism; Lipid Metabolism, Inborn Errors; Models, Biological; Phosphatidylcholines; Pregnancy; Pregnancy Complications | 2007 |
The metabolic role of lecithin: cholesterol acyltransferase: perspectives form pathology.
Topics: Acyltransferases; Amino Acids; Animals; Apoproteins; Blood Proteins; Cholestasis; Cholesterol; Chromatography, Gel; Dietary Fats; Guinea Pigs; Humans; Lipid Metabolism, Inborn Errors; Lipoproteins, HDL; Lipoproteins, LDL; Lipoproteins, VLDL; Microscopy, Electron; Models, Biological; Molecular Weight; Phosphatidylcholines; Ultracentrifugation | 1973 |
The proteins of plasma lipoproteins: properties and significance.
Topics: Acyltransferases; Amino Acid Sequence; Amino Acids; Apoproteins; Cholesterol; Chromatography; Chromatography, Gel; Chylomicrons; Circular Dichroism; Electrophoresis; Electrophoresis, Polyacrylamide Gel; Electrophoresis, Starch Gel; Humans; Lipase; Lipid Metabolism, Inborn Errors; Lipoproteins, HDL; Lipoproteins, LDL; Lipoproteins, VLDL; Molecular Weight; Optical Rotatory Dispersion; Phosphatidylcholines; Solubility; Spectrophotometry, Ultraviolet; Ultracentrifugation | 1973 |
Lipoprotein deficiency disorders.
Topics: Abetalipoproteinemia; Acyltransferases; Age Factors; Body Height; Body Weight; Cholesterol; Chylomicrons; Feces; Homozygote; Humans; Intestinal Mucosa; Lipid Metabolism, Inborn Errors; Lipoproteins, HDL; Lipoproteins, LDL; Phosphatidylcholines; Phospholipids; Retina; Sphingomyelins; Triglycerides | 1973 |
Lipid and lipoprotein abnormalities in liver disease: the possible role of lecithin: cholesterol acyltransferase deficiency.
Topics: Acyltransferases; Cholestasis; Cholesterol; Esters; Humans; Hypercholesterolemia; Lipid Metabolism, Inborn Errors; Lipoproteins, HDL; Lipoproteins, LDL; Lipoproteins, VLDL; Liver Diseases; Lysophosphatidylcholines; Metabolism, Inborn Errors; Phosphatidylcholines | 1974 |
The metabolic role of lecithin: cholesterol acyltransferase: perspectives from pathology.
Topics: Acyltransferases; Amino Acids; Animals; Apoproteins; Cholestasis; Cholesterol; Cholesterol, Dietary; Chromatography, Gel; Dietary Fats; Electrophoresis, Polyacrylamide Gel; Erythrocytes; Female; Guinea Pigs; Humans; Intestinal Mucosa; Lipid Metabolism, Inborn Errors; Lipoprotein Lipase; Lipoproteins; Lipoproteins, HDL; Lipoproteins, LDL; Lipoproteins, VLDL; Male; Microscopy, Electron; Models, Biological; Molecular Weight; Phosphatidylcholines; Triglycerides; Ultracentrifugation | 1973 |
Hemolysis and changes in erythrocyte membrane lipids. 2.
Topics: Acyltransferases; Anemia, Hemolytic; Animals; Blood Protein Disorders; Blood Proteins; Cell Membrane; Cell Membrane Permeability; Chemical Phenomena; Chemistry; Cholesterol; Complement System Proteins; Erythrocytes; Erythrocytes, Abnormal; Fatty Acids; Hemolysis; Humans; Hyperlipidemias; Lipid Metabolism; Lipid Metabolism, Inborn Errors; Lipids; Lipoproteins; Liver Diseases; Osmosis; Phosphatidylcholines; Phospholipids; Protein Binding; Spherocytosis, Hereditary | 1972 |
Plasma lipids and lipoproteins in patients with liver disease.
Topics: Acyltransferases; Cholesterol; Humans; Lipid Metabolism, Inborn Errors; Lipids; Lipoproteins; Liver; Liver Diseases; Phosphatidylcholines | 1972 |
[Lecithin degradation and esterification of cholesterol in human serum. Further results on the role of lecithin-cholesterol acyltransferase in lipid metabolism under normal and pathological conditions (author's transl)].
Topics: Acyltransferases; Cholesterol; Erythrocytes; Humans; Hyperlipidemias; Lipid Metabolism, Inborn Errors; Liver; Metabolism, Inborn Errors; Phosphatidylcholines | 1974 |
Lecithin: cholesterol acyltransferase recent research on biochemistry and physiology of the enzyme.
Topics: Acyltransferases; Adult; Animals; Biological Transport; Cell Membrane; Cholesterol; Erythrocytes; Esters; Female; Humans; Kidney Failure, Chronic; Lipid Metabolism, Inborn Errors; Lipids; Lipoproteins; Liver; Liver Diseases; Male; Middle Aged; Phosphatidylcholines; Proteinuria; Rats; Syndrome | 1974 |
[Lipid metabolism in kidney diseases].
Topics: Acyltransferases; Angiokeratoma; Arthritis; Cholesterol; Fatty Acids, Nonesterified; Humans; Hyperlipidemias; Kidney Diseases; Lipid Metabolism; Lipid Metabolism, Inborn Errors; Lipids; Nephrosis; Nephrotic Syndrome; Phosphatidylcholines | 1968 |
Circulating lipoproteins.
Topics: Acyltransferases; Animals; Chemical Phenomena; Chemistry; Cholesterol; Chylomicrons; Dogs; Female; Humans; Immunochemistry; Lipid Metabolism, Inborn Errors; Lipoprotein Lipase; Lipoproteins; Phosphatidylcholines; Rats | 1969 |
46 other study(ies) available for phosphatidylcholines and Lipid Metabolism, Inborn Error
Article | Year |
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Lipidomic and Proteomic Alterations Induced by Even and Odd Medium-Chain Fatty Acids on Fibroblasts of Long-Chain Fatty Acid Oxidation Disorders.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Caprylates; Cardiolipins; Cell Line; Female; Fibroblasts; Genotype; Heptanoates; Humans; Lipid Metabolism, Inborn Errors; Lipidomics; Male; Mitochondria; Phosphatidylcholines; Phosphatidylethanolamines; Proteome; Proteomics; Sphingolipids | 2021 |
[Treatment of choline kinase beta deficiency with citicoline].
Topics: Adolescent; Child, Preschool; Choline Kinase; Cytidine Diphosphate Choline; Humans; Lipid Metabolism, Inborn Errors; Male; Phosphatidylcholines | 2018 |
Long-chain acyl-CoA dehydrogenase deficiency as a cause of pulmonary surfactant dysfunction.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Adult; Animals; Bronchi; Cell Line, Tumor; Coenzyme A; Disease Models, Animal; Epithelial Cells; Fatty Acids; Female; Homozygote; Humans; Infant; Infant, Newborn; Lipid Metabolism, Inborn Errors; Lung; Lung Diseases; Lung Neoplasms; Male; Mice; Mice, Inbred C57BL; Mice, Transgenic; Oxygen; Phosphatidylcholines; Phosphatidylglycerols; Polymorphism, Genetic; Pulmonary Alveoli; Pulmonary Surfactants | 2014 |
Oxidized phosphatidylcholines suggest oxidative stress in patients with medium-chain acyl-CoA dehydrogenase deficiency.
Topics: Acyl-CoA Dehydrogenase; Biomarkers; Case-Control Studies; Humans; Infant, Newborn; Lipid Metabolism, Inborn Errors; Metabolome; Neonatal Screening; Oxidation-Reduction; Oxidative Stress; Phosphatidylcholines; Pilot Projects; Tandem Mass Spectrometry | 2015 |
Unique plasma metabolomic signatures of individuals with inherited disorders of long-chain fatty acid oxidation.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Adolescent; Carnitine; Carnitine O-Palmitoyltransferase; Case-Control Studies; Ceramides; Fatty Acids; Female; Humans; Lipid Metabolism; Lipid Metabolism, Inborn Errors; Male; Metabolic Networks and Pathways; Metabolism, Inborn Errors; Oxidation-Reduction; Phosphatidylcholines; Phosphatidylethanolamines; Plasma; Sphingomyelins; Triglycerides | 2016 |
Imaging mass spectrometry visualizes ceramides and the pathogenesis of dorfman-chanarin syndrome due to ceramide metabolic abnormality in the skin.
Topics: Animals; Ceramides; Diagnostic Imaging; Humans; Ichthyosiform Erythroderma, Congenital; Ions; Lipid Metabolism, Inborn Errors; Lipids; Mass Spectrometry; Mice; Molecular Imaging; Muscular Diseases; Phosphatidylcholines; Phosphoric Monoester Hydrolases; Skin | 2012 |
Remodeling of cardiolipin by phospholipid transacylation.
Topics: Acylation; Acyltransferases; Animals; Carbon Radioisotopes; Cardiolipins; Case-Control Studies; Humans; Lipid Metabolism, Inborn Errors; Lymphocytes; Mitochondria, Liver; Phosphatidylcholines; Phosphatidylethanolamines; Proteins; Rats; Transcription Factors | 2003 |
Familial serum-cholesterol esterification failure. A new inborn error of metabolism.
Topics: Adult; Cholesterol; Chromatography, Thin Layer; Female; Humans; Lipid Metabolism, Inborn Errors; Lipoproteins; Lysophosphatidylcholines; Phosphatidylcholines; Phosphatidylethanolamines; Sphingomyelins; Transferases; Triglycerides | 1967 |
Neutral lipid storage disease: a genetic disorder with abnormalities in the regulation of phospholipid metabolism.
Topics: Cells, Cultured; Choline; Cytidine Diphosphate; Cytidine Diphosphate Choline; Diglycerides; Ethanolamine; Ethanolamines; Fibroblasts; Glycerol; Homeostasis; Humans; Lipid Metabolism, Inborn Errors; Oleic Acid; Phosphatidylcholines; Phosphatidylinositols; Phosphatidylserines; Phospholipids; Sphingomyelins; Triglycerides | 1998 |
Lipoproteins in lecithin-cholesterol-acyltransferase(LCAT)-deficiency. II. Further studies on the abnormal high-density-lipoproteins.
Topics: Acetyltransferases; Apoproteins; Cholesterol; Electrophoresis, Polyacrylamide Gel; Immunodiffusion; Immunoelectrophoresis; Isoelectric Focusing; Lipid Metabolism, Inborn Errors; Lipoproteins; Lipoproteins, HDL; Microscopy, Electron; Molecular Conformation; Molecular Weight; Peptides; Phosphatidylcholines | 1975 |
[New types of congenital metabolic errors detected in newborn infants].
Topics: Amines; Amino Acid Metabolism, Inborn Errors; Ascorbic Acid; Carbohydrate Metabolism, Inborn Errors; Female; Glucose; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Lipid Metabolism, Inborn Errors; Male; Metabolism, Inborn Errors; Peptides; Phosphatidylcholines; Ribose | 1975 |
Isolation and characterization of human apolipoprotein A-I Fukuoka (110 Glu----Lys). A novel apolipoprotein variant.
Topics: Amino Acid Sequence; Apolipoprotein A-I; Apolipoproteins A; Base Sequence; Genetic Variation; Humans; Isoelectric Focusing; Lipid Metabolism, Inborn Errors; Lipoproteins, HDL; Male; Middle Aged; Molecular Sequence Data; Pedigree; Phosphatidylcholines; Sterol O-Acyltransferase | 1990 |
Preparation and properties of an affinity column adsorbent for differentiation of multiple forms of -galactosidase activity.
Topics: Acetates; Adolescent; Amides; Aniline Compounds; Blood Chemical Analysis; Cerebrosides; Chromatography; Chromatography, Affinity; Chromatography, Thin Layer; Disaccharides; Electrophoresis; Female; Galactosidases; Glycolipids; Glycoproteins; Humans; Kidney; Lipid Metabolism, Inborn Errors; Male; Phosphatidylcholines; Polysaccharides; Staining and Labeling | 1973 |
The ultrastructure of plasma lipoproteins in lecithin:cholesterol acyltransferase deficiency.
Topics: Acyltransferases; Apoproteins; Cholestasis; Cholesterol; Chromatography, Gel; Esters; Humans; Lipid Metabolism, Inborn Errors; Lipoproteins, HDL; Lipoproteins, LDL; Lipoproteins, VLDL; Metabolism, Inborn Errors; Microscopy, Electron; Phosphatidylcholines; Phospholipids; Staining and Labeling | 1974 |
The distribution of 17 carbon fatty acids in the liver of a child with propionicacidaemia.
Topics: Animals; Chemical Phenomena; Chemistry; Child; Cholesterol; Chromatography, Gas; Chromatography, Thin Layer; Coenzyme A; Esters; Fatty Acids; Fatty Acids, Essential; Fatty Acids, Nonesterified; Humans; Ligases; Lipase; Lipid Metabolism; Lipid Metabolism, Inborn Errors; Liver; Male; Oxidation-Reduction; Pancreas; Periodic Acid; Phosphatidylcholines; Phosphatidylethanolamines; Phospholipases; Propionates; Snakes; Swine; Triglycerides; Venoms | 1971 |
Cerebral phospholipids in 'quaking' mice.
Topics: Animals; Brain; Brain Chemistry; Central Nervous System Diseases; Chromatography, Thin Layer; Demyelinating Diseases; Lipid Metabolism, Inborn Errors; Mice; Mutation; Organ Size; Phosphatidylcholines; Phosphatidylethanolamines; Phosphatidylinositols; Phospholipids; Plasmalogens; Rodent Diseases; Sphingomyelins | 1971 |
Enrichment of bis-(monoacylglyceryl) phosphate in lysosomes from rat liver.
Topics: Acid Phosphatase; Animals; Cardiolipins; Cell Fractionation; Centrifugation, Density Gradient; Chromatography, Thin Layer; Hydrogen-Ion Concentration; Lipid Metabolism, Inborn Errors; Liver; Liver Diseases; Lysosomes; Male; Mitochondria, Liver; Phosphatidylcholines; Phosphatidylethanolamines; Phosphatidylinositols; Phospholipids; Rats; Sphingomyelins; Surface-Active Agents | 1972 |
Identification of lipoprotein families in familial lecithin: cholesterol acyltransferase deficiency.
Topics: Acyltransferases; Animals; Apoproteins; Cholesterol; Chylomicrons; Electrophoresis, Polyacrylamide Gel; Goats; Humans; Immunodiffusion; Immunoelectrophoresis; Lipid Metabolism, Inborn Errors; Lipoproteins, HDL; Lipoproteins, LDL; Lipoproteins, VLDL; Phosphatidylcholines; Ultracentrifugation | 1973 |
In vitro determination of lecithin:cholesterol acyltransferase in plasma.
Topics: Acyltransferases; Adult; Blood Transfusion; Cholesterol; Chromatography, Gas; Cold Temperature; Esters; Evaluation Studies as Topic; Female; Humans; Lipid Metabolism, Inborn Errors; Lipoproteins, HDL; Male; Metabolism, Inborn Errors; Methods; Middle Aged; Phosphatidylcholines; Time Factors; Triglycerides; Tritium | 1974 |
Familial lecithin:cholesterol acyltransferase deficiency--a clinical survey.
Topics: Acyltransferases; Adult; Anemia; Apoproteins; Arteriosclerosis; Bone Marrow Cells; Cholesterol; Chromosomes, Human, 16-18; Corneal Opacity; Esters; Female; Histiocytes; Humans; Kidney Diseases; Kidney Glomerulus; Lipid Metabolism, Inborn Errors; Lipoproteins, LDL; Male; Metabolism, Inborn Errors; Middle Aged; Norway; Phosphatidylcholines; Proteinuria | 1974 |
Apolipoproteins and lipoprotein families in familial lecithin: cholesterol acyltransferase deficiency.
Topics: Acyltransferases; Apoproteins; Cholesterol; Electrophoresis, Polyacrylamide Gel; Female; Humans; Immunodiffusion; Immunoelectrophoresis; Lipid Metabolism, Inborn Errors; Lipoproteins, HDL; Lipoproteins, LDL; Lipoproteins, VLDL; Male; Metabolism, Inborn Errors; Phosphatidylcholines | 1974 |
Familial lecithin:cholesterol acyltransferase deficiency. Studies on lipid composition and morphology of tissues.
Topics: Acyltransferases; Adult; Autopsy; Biopsy; Cholesterol; Female; Humans; Kidney; Kidney Cortex; Kidney Failure, Chronic; Kidney Glomerulus; Kidney Transplantation; Lipid Metabolism, Inborn Errors; Liver; Lysophosphatidylcholines; Metabolism, Inborn Errors; Phosphatidylcholines; Phosphatidylethanolamines; Phosphatidylinositols; Phospholipids; Sphingomyelins; Spleen; Transplantation, Homologous; Triglycerides | 1974 |
Structural studies on serum lipoproteins in homozygotes and heterozygotes for the lecithin:cholesterol acyltransferase deficiency gene.
Topics: Acyltransferases; Cholesterol; Chromatography, Gel; Female; Genes; Heterozygote; Homozygote; Humans; Lipid Metabolism, Inborn Errors; Lipoproteins, HDL; Lipoproteins, LDL; Metabolism, Inborn Errors; Microscopy, Electron; Phosphatidylcholines | 1974 |
Plasma lipoprotein metabolism in familial lecithin:cholesterol acyltransferase deficiency.
Topics: Acyltransferases; Apoproteins; Cholesterol; Chromatography, Gel; Chylomicrons; Diet; Esters; Heparin; Humans; Hyperlipidemias; Lipid Metabolism, Inborn Errors; Lipoproteins, HDL; Lipoproteins, LDL; Lipoproteins, VLDL; Metabolism, Inborn Errors; Molecular Weight; Phosphatidylcholines; Stimulation, Chemical | 1974 |
Possible association between an abnormal low density lipoprotein and nephropathy in lecithin: cholesterol acyltransferase deficiency.
Topics: Acyltransferases; Cholesterol; Chromatography, Gel; Female; Humans; Kidney; Lipid Metabolism, Inborn Errors; Lipoproteins, LDL; Lipoproteins, VLDL; Male; Middle Aged; Molecular Weight; Pedigree; Phosphatidylcholines; Phospholipids; Spectrophotometry, Ultraviolet; Triglycerides; Ultracentrifugation | 1974 |
On the polypeptide composition of an abnormal high density lipoprotein (LP-E) occurring in LCAT-deficient plasma.
Topics: Acyltransferases; Animals; Apoproteins; Blood Protein Electrophoresis; Cholesterol; Electrophoresis, Polyacrylamide Gel; Humans; Immunoelectrophoresis; Lipid Metabolism, Inborn Errors; Lipoproteins, HDL; Lipoproteins, VLDL; Liver Diseases; Microscopy, Electron; Molecular Weight; Phosphatidylcholines; Rabbits; Sodium Dodecyl Sulfate; Ultracentrifugation | 1974 |
Plasma lipoproteins in patients with familial plasma lecithin: cholesterol acyltransferase (LCAT) deficiency--studies on the apolipoprotein composition of isolated fractions with identification of LP-X.
Topics: Acyltransferases; Animals; Apoproteins; Blood Protein Disorders; Cholesterol; Humans; Immunodiffusion; Immunoelectrophoresis; Lipid Metabolism, Inborn Errors; Lipoproteins; Lipoproteins, HDL; Lipoproteins, LDL; Lipoproteins, VLDL; Phosphatidylcholines; Rabbits; Ultracentrifugation | 1974 |
Plasma lipoproteins in patients with familial plasma lecithin: cholesterol acyltransferase deficiency: apolipoprotein composition of isolated fractions.
Topics: Acyltransferases; Cholesterol; Humans; Lipid Metabolism, Inborn Errors; Lipoproteins; Phosphatidylcholines | 1972 |
Ultrastructural aspects of familial lecithin-cholesterol acyltransferase deficiency.
Topics: Acute Kidney Injury; Acyltransferases; Adult; Basement Membrane; Capillaries; Cholesterol; Cytoplasmic Granules; Endothelium; Epithelial Cells; Esters; Female; Humans; Kidney; Kidney Glomerulus; Lipid Metabolism, Inborn Errors; Microscopy, Electron; Phosphatidylcholines; Spleen; Triglycerides | 1973 |
Probable linkage of LCAT locus in man to the alpha haptoglobin locus on chromosome 16.
Topics: Acyltransferases; Adult; Cholesterol; Chromosome Mapping; Chromosomes, Human, 16-18; Female; Genes; Genetic Linkage; Haptoglobins; Humans; Lipid Metabolism, Inborn Errors; Male; Middle Aged; Norway; Pedigree; Phenotype; Phosphatidylcholines | 1974 |
Ocular manifestations in familial lecithin: cholesterol acyltransferase deficiency.
Topics: Acyltransferases; Cholesterol; Corneal Opacity; Eye Diseases; Female; Fundus Oculi; Humans; Lipid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Optic Atrophy; Papilledema; Phosphatidylcholines; Retinal Hemorrhage | 1974 |
Familial lecithin:cholesterol acyltransferase deficiency. Ultrastructural studies on lipid deposition and tissue reactions.
Topics: Acyltransferases; Adult; Aorta; Autopsy; Basement Membrane; Biopsy; Biopsy, Needle; Cholesterol; Cytoplasmic Granules; Endothelium; Epithelium; Female; Humans; Iliac Artery; Kidney; Kidney Glomerulus; Kupffer Cells; Lipid Metabolism, Inborn Errors; Liver; Metabolism, Inborn Errors; Microscopy, Electron; Middle Aged; Phosphatidylcholines; Phospholipids | 1974 |
Tangier disease. Report of a case and studies of lipid metabolism.
Topics: Acyltransferases; Adolescent; Adult; Blood Protein Disorders; Cholesterol; Electrophoresis; Female; Humans; Lipid Metabolism, Inborn Errors; Lipoprotein Lipase; Lipoproteins; Macrophages; Male; Mononuclear Phagocyte System; Palatine Tonsil; Phosphatidylcholines; Triglycerides | 1972 |
Tonsils, apolipoproteins and enzymes.
Topics: Acyltransferases; Adult; Blood Protein Disorders; Child; Cholesterol; Female; Humans; Lipid Metabolism; Lipid Metabolism, Inborn Errors; Lipoprotein Lipase; Lipoproteins; Male; Mononuclear Phagocyte System; Palatine Tonsil; Peptides; Phosphatidylcholines; Triglycerides | 1972 |
The distribution of C17 fatty acids in the liver of a child with propionicacidaemia.
Topics: Child; Cholesterol; Fatty Acids; Fatty Acids, Nonesterified; Humans; Ligases; Lipid Metabolism, Inborn Errors; Liver; Phosphatidylcholines; Phosphatidylethanolamines; Propionates; Triglycerides | 1971 |
Plasma lipoproteins in familial lecithin: cholesterol acyltransferase deficiency: lipid composition and reactivity in vitro.
Topics: Acyltransferases; Adult; Cholesterol; Chromatography, Gel; Female; Humans; In Vitro Techniques; Lipid Metabolism, Inborn Errors; Lipoproteins; Phosphatidylcholines; Triglycerides; Ultracentrifugation | 1970 |
Cerebral lipids in a case of systemic Gm2-gangliosidosis of a late infantile type.
Topics: Brain Chemistry; Cerebrosides; Child; Child, Preschool; Cholesterol; Chromatography, Thin Layer; Female; Gangliosides; Glycolipids; Humans; Lipid Metabolism; Lipid Metabolism, Inborn Errors; Lipidoses; Male; Nervous System; Phosphatidylcholines; Phospholipids; Sphingomyelins; Sulfates | 1970 |
Activation of lipoprotein lipase by lipoprotein fractions of human serum.
Topics: Acyltransferases; Animals; Caseins; Cholesterol; Emulsions; Enzyme Activation; Glycine max; Guinea Pigs; Humans; Lipid Metabolism, Inborn Errors; Lipoprotein Lipase; Lipoproteins; Male; Oils; Phosphatidylcholines; Triglycerides; Ultracentrifugation | 1970 |
Plasma lipoproteins in familial lecithin: cholesterol acyltransferase deficiency: physical and chemical studies of low and high density lipoproteins.
Topics: Acyltransferases; Adult; Blood Protein Electrophoresis; Cholesterol; Chromatography, Gel; Female; Humans; Lipid Metabolism, Inborn Errors; Lipoproteins; Molecular Weight; Phosphatidylcholines; Specific Gravity; Ultracentrifugation | 1971 |
Plasma lipoproteins in familial lecithin: cholesterol acyltransferase deficiency: structure of low and high density lipoproteins as revealed by elctron microscopy.
Topics: Adult; Cholesterol; Chromatography, Gel; Female; Humans; Lipid Metabolism, Inborn Errors; Lipoproteins; Microscopy, Electron; Molecular Weight; Phosphatidylcholines; Specific Gravity; Ultracentrifugation | 1971 |
Fatty acid composition of cholesterol esters in brains of patients with Schilder's disease, G M1 -gangliosidosis and Tay-Sachs disease, and its possible relationship to the -position fatty acids of lecithin.
Topics: Acyltransferases; Amino Alcohols; Brain; Brain Chemistry; Cerebral Cortex; Cholesterol; Chromatography, Gas; Demyelinating Diseases; Diffuse Cerebral Sclerosis of Schilder; Enzyme Activation; Esters; Fatty Acids; Gangliosides; Humans; Lipid Metabolism, Inborn Errors; Lipidoses; Phosphatidylcholines; Phospholipases | 1971 |
Cerebroside and sulphatide deficiency in the brain of "Jimpy mice", a mutant strain of mice exhibiting neurological symptoms.
Topics: Animals; Brain Chemistry; Brain Diseases; Cerebrosides; Chromatography, Thin Layer; Glycolipids; Lipid Metabolism, Inborn Errors; Lipids; Male; Mice; Mutation; Neurologic Manifestations; Phosphatidylcholines; Phosphatidylethanolamines; Phospholipids; Rodent Diseases; Sphingomyelins | 1968 |
Familial plasma cholesterol ester deficiency. A study of the erythrocytes.
Topics: Acyltransferases; Blood Cells; Cholesterol; Chromatography, Gas; Chromatography, Thin Layer; Erythrocytes; Fatty Acids; Female; Humans; Lipid Metabolism; Lipid Metabolism, Inborn Errors; Phosphatidylcholines; Phosphatidylethanolamines; Phospholipids; Phosphorus; Photomicrography; Sphingomyelins | 1968 |
The influence of plasma from patients with familial plasma lecithin: cholesterol acyltransferase deficiency on the lipid pattern of erythrocytes.
Topics: Acyltransferases; Blood; Cholesterol; Erythrocytes; Esters; Hot Temperature; Humans; Lipid Metabolism; Lipid Metabolism, Inborn Errors; Phosphatidylcholines; Phospholipids; Phosphorus; Plasma | 1968 |
The effect of plasma transfusion on the plasma cholesterol esters in patients with familial plasma lecithin: cholesterol acyltransferase deficiency.
Topics: Acyltransferases; Adolescent; Adult; Blood Transfusion; Cholesterol; Esterases; Esters; Fatty Acids; Female; Humans; Lipid Metabolism, Inborn Errors; Lipids; Phosphatidylcholines; Plasma | 1968 |
Familial plasma lecithin: cholesterol acyltransferase deficiency.
Topics: Acyltransferases; Adolescent; Adult; Anemia, Hemolytic; Child; Child, Preschool; Cholesterol; Corneal Opacity; Erythrocytes; Female; Heparin; Humans; Lipid Metabolism, Inborn Errors; Lipids; Male; Middle Aged; Phosphatidylcholines; Proteinuria; Triglycerides | 1969 |