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phosphatidylcholines and Lipid Metabolism, Inborn Error

phosphatidylcholines has been researched along with Lipid Metabolism, Inborn Error in 58 studies

Research

Studies (58)

TimeframeStudies, this research(%)All Research%
pre-199048 (82.76)18.7374
1990's2 (3.45)18.2507
2000's2 (3.45)29.6817
2010's5 (8.62)24.3611
2020's1 (1.72)2.80

Authors

AuthorsStudies
Alatibi, KI; Ausserlechner, MJ; Grünert, SC; Hagenbuchner, J; Karall, D; Schilling, O; Tholen, S; Tucci, S; Vockley, J; Wehbe, Z1
Castro-Gago, M; Dacruz, D; Eiris-Punal, J; Gomez-Lado, C1
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, YY1
Adam, T; Correa, ES; Friedecký, D; Gardlo, A; Goodacre, R; Janečková, H; Mádrová, L; Najdekr, L1
Adams, SH; Gillingham, MB; Knotts, TA; Matern, D; McCoin, CS; Piccolo, BD; Vockley, J1
Goto-Inoue, N; Hayasaka, T; Holleran, WM; Nakajima, K; Sano, S; Setou, M; Uchida, Y; Zaima, N1
Blanck, TJ; Kelley, RI; Schlame, M; Xu, Y1
Oude Elferink, RP; Paulusma, CC1
Gjone, E; Norum, KR4
Coleman, RA; Igal, RA1
Dieker, P; Langer, KH; Menzel, HJ; Utermann, G1
Boerescu, J; Tănase Mogoş, I1
Arakawa, K; Ikehara, Y; Nakanishi, T; Ogata, S; Sasaki, J; Takada, Y1
Mapes, CA; Sweeley, CC1
Forte, T; Glomset, J; Nichols, A; Norum, K1
Gompertz, D2
Clarke, N; Dawson, RM1
Huterer, S; Wherrett, JR1
Glomset, JA; Norum, KR1
Alaupovic, P; Berg, K; Curry, MD; Gjone, E; Magnani, HN; McConathy, WJ; Torsvik, H2
Ritter, MC; Scanu, AM1
Lloyd, JK1
Blomhoff, JP1
Gjone, E1
Bjerve, KS; Blomhoff, JP; Flatmark, A; Gjone, E; Norum, KR; Oystese, B; Stokke, KT1
Calandra, S; McIntyre, N; Pearson, AJ1
Solaas, MH1
Albers, J; Applegate, KR; Forte, T; Gjone, E; Glomset, JA; King, WC; Mitchell, CD; Nichols, AV; Norum, KR1
Blomhoff, JP; Gjone, E; Skarbovik, AJ1
Langer, KH; Menzel, HJ; Utermann, G1
Blomhoff, JP; Geisen, HP; Gjone, E; Seidel, D1
Glomset, JA1
Shohet, SB1
Seidel, D2
Scherer, R1
Gjone, E; Hovig, T2
Gjone, E; Teisberg, P1
Hörven, I1
Naito, C; Yoshitoshi, Y1
Adams, GH; Schumaker, VN1
Clifton-Bligh, P; Nestel, PJ; Whyte, HM1
Fredrickson, DS1
Glomset, JA; King, W; Norum, KR1
Feldman, NI; Klibansky, C; Saifer, A; Schneck, L; Volk, BW1
Bier, DM; Havel, RJ1
Forte, T; Glomset, JA; Nichols, AV; Norum, KR2
Eto, Y; Suzuki, K1
Galli, C; Re Cecconi Galli, D1
Gjone, E; Norum, KR; Torsvik, H1
Gjone, E; Hamnström, B; Norum, KR1

Reviews

12 review(s) available for phosphatidylcholines and Lipid Metabolism, Inborn Error

ArticleYear
Function and pathophysiological importance of ABCB4 (MDR3 P-glycoprotein).
    Pflugers Archiv : European journal of physiology, 2007, Volume: 453, Issue:5

    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.
    Advances in lipid research, 1973, Volume: 11

    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.
    Advances in clinical chemistry, 1973, Volume: 16

    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.
    Clinics in endocrinology and metabolism, 1973, Volume: 2, Issue:1

    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.
    Scandinavian journal of clinical and laboratory investigation. Supplementum, 1974, Volume: 137

    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.
    Advances in lipid research, 1973, Volume: 11, Issue:0

    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.
    The New England journal of medicine, 1972, Mar-23, Volume: 286, Issue:12

    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.
    Scandinavian journal of gastroenterology, 1972, Volume: 7, Issue:2

    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)].
    Klinische Wochenschrift, 1974, Mar-01, Volume: 52, Issue:5

    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.
    Scandinavian journal of clinical and laboratory investigation, 1974, Volume: 33, Issue:3

    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].
    Naika. Internal medicine, 1968, Volume: 22, Issue:4

    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.
    Annual review of biochemistry, 1969, Volume: 38

    Topics: Acyltransferases; Animals; Chemical Phenomena; Chemistry; Cholesterol; Chylomicrons; Dogs; Female; Humans; Immunochemistry; Lipid Metabolism, Inborn Errors; Lipoprotein Lipase; Lipoproteins; Phosphatidylcholines; Rats

1969

Other Studies

46 other study(ies) available for phosphatidylcholines and Lipid Metabolism, Inborn Error

ArticleYear
Lipidomic and Proteomic Alterations Induced by Even and Odd Medium-Chain Fatty Acids on Fibroblasts of Long-Chain Fatty Acid Oxidation Disorders.
    International journal of molecular sciences, 2021, Sep-29, Volume: 22, Issue:19

    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].
    Revista de neurologia, 2018, 07-01, Volume: 67, Issue:1

    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.
    The Journal of biological chemistry, 2014, Apr-11, Volume: 289, Issue:15

    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.
    Talanta, 2015, Jul-01, Volume: 139

    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.
    Journal of inherited metabolic disease, 2016, Volume: 39, Issue:3

    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.
    PloS one, 2012, Volume: 7, Issue:11

    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.
    The Journal of biological chemistry, 2003, Dec-19, Volume: 278, Issue:51

    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.
    Biochimica et biophysica acta, 1967, Dec-05, Volume: 144, Issue:3

    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.
    Journal of lipid research, 1998, Volume: 39, Issue:1

    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.
    Humangenetik, 1975, Volume: 27, Issue:3

    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].
    Physiologie (Bucarest), 1975, Volume: 12, Issue:4

    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.
    Biochimica et biophysica acta, 1990, Apr-02, Volume: 1043, Issue:2

    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.
    The Journal of biological chemistry, 1973, Apr-10, Volume: 248, Issue:7

    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.
    Scandinavian journal of clinical and laboratory investigation. Supplementum, 1974, Volume: 137

    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.
    Lipids, 1971, Volume: 6, Issue:8

    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.
    Journal of neurochemistry, 1971, Volume: 18, Issue:7

    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.
    The Journal of biological chemistry, 1972, Jul-10, Volume: 247, Issue:13

    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.
    Biochimica et biophysica acta, 1973, Dec-20, Volume: 326, Issue:3

    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.
    Scandinavian journal of clinical and laboratory investigation. Supplementum, 1974, Volume: 137

    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.
    Scandinavian journal of clinical and laboratory investigation. Supplementum, 1974, Volume: 137

    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.
    Scandinavian journal of clinical and laboratory investigation. Supplementum, 1974, Volume: 137

    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.
    Scandinavian journal of clinical and laboratory investigation. Supplementum, 1974, Volume: 137

    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.
    Scandinavian journal of clinical and laboratory investigation. Supplementum, 1974, Volume: 137

    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.
    Scandinavian journal of clinical and laboratory investigation. Supplementum, 1974, Volume: 137

    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.
    Clinica chimica acta; international journal of clinical chemistry, 1974, Jul-15, Volume: 54, Issue:1

    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.
    FEBS letters, 1974, Sep-01, Volume: 45, Issue:1

    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.
    Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme, 1974, Volume: Suppl 4

    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.
    Verhandlungen der Deutschen Gesellschaft fur Innere Medizin, 1972, Volume: 78

    Topics: Acyltransferases; Cholesterol; Humans; Lipid Metabolism, Inborn Errors; Lipoproteins; Phosphatidylcholines

1972
Ultrastructural aspects of familial lecithin-cholesterol acyltransferase deficiency.
    Nutrition and metabolism, 1973, Volume: 15, Issue:1

    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.
    Nature, 1974, Jun-07, Volume: 249, Issue:457

    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.
    Scandinavian journal of clinical and laboratory investigation. Supplementum, 1974, Volume: 137

    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.
    Scandinavian journal of clinical and laboratory investigation. Supplementum, 1974, Volume: 137

    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.
    The New England journal of medicine, 1972, Mar-16, Volume: 286, Issue:11

    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.
    The New England journal of medicine, 1972, Mar-16, Volume: 286, Issue:11

    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.
    The Biochemical journal, 1971, Volume: 122, Issue:1

    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.
    The Journal of clinical investigation, 1970, Volume: 49, Issue:10

    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.
    Journal of neurochemistry, 1970, Volume: 17, Issue:3

    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.
    Journal of lipid research, 1970, Volume: 11, Issue:6

    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.
    The Journal of clinical investigation, 1971, Volume: 50, Issue:5

    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.
    The Journal of clinical investigation, 1971, Volume: 50, Issue:5

    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.
    Journal of neurochemistry, 1971, Volume: 18, Issue:6

    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.
    Nature, 1968, Oct-12, Volume: 220, Issue:5163

    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.
    Scandinavian journal of clinical and laboratory investigation, 1968, Volume: 21, Issue:4

    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.
    Scandinavian journal of clinical and laboratory investigation, 1968, Volume: 22, Issue:2

    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.
    Scandinavian journal of clinical and laboratory investigation, 1968, Volume: 22, Issue:4

    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.
    British medical journal, 1969, May-03, Volume: 2, Issue:5652

    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