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phosphatidylcholines and Inborn Errors of Metabolism

phosphatidylcholines has been researched along with Inborn Errors of Metabolism in 39 studies

Research

Studies (39)

TimeframeStudies, this research(%)All Research%
pre-199038 (97.44)18.7374
1990's0 (0.00)18.2507
2000's0 (0.00)29.6817
2010's1 (2.56)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Adams, SH; Gillingham, MB; Knotts, TA; Matern, D; McCoin, CS; Piccolo, BD; Vockley, J1
Kudoh, T; Velkoff, MA; Wenger, DA1
Boerescu, J; Tănase Mogoş, I1
Wendel, U1
Gjone, E; Hovig, T; Jacobsen, CD1
Forte, T; Glomset, J; Nichols, A; Norum, K1
Torsvik, H2
Baxter, CF; Kritchevsky, G; Rouser, G; Yamamoto, A1
Forte, T; Glomset, JA; King, W; Nichols, AV; Norum, KR1
Norum, KR3
Seidel, D; Wieland, H1
Blomhoff, JP1
Gjone, E2
Alaupovic, P; Berg, K; Curry, MD; Gjone, E; Magnani, HN; McConathy, WJ; Torsvik, H1
Bjerve, KS; Blomhoff, JP; Flatmark, A; Gjone, E; Norum, KR; Oystese, B; Stokke, KT1
Blomhoff, JP; Gjone, E; Skarbövik, AJ; Teisberg, P1
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
Borven, I; Egge, K; Gjone, E1
Barrelet, V; Cruz, J; Weihs, D; Wilson, E1
Scherer, R1
Ritland, S1
Dieker, P; Langer, KH; Schoenborn, W; Utermann, G1
Blomhoff, JP; Fausa, O; Gjone, E; Javitt, NB1
Gjone, E; Hovig, T2
Bain, AD; Darling, JA; Harkness, RA; Syme, J1
Hörven, I1
Dayan, AD; Ramsey, RB1
Kawase, I; Tsubura, E; Yamamura, Y1
Greten, H1
Gregoriadis, G; Ryman, BE1
Borsting, S; Grundt, I; Norum, KR1
Gjone, E; Nordöy, A1

Reviews

5 review(s) available for phosphatidylcholines and Inborn Errors of Metabolism

ArticleYear
Lipids in the nervous system of different species as a function of age: brain, spinal cord, peripheral nerve, purified whole cell preparations, and subcellular particulates: regulatory mechanisms and membrane structure.
    Advances in lipid research, 1972, Volume: 10

    Topics: Age Factors; Animals; Brain Chemistry; Capillaries; Cholesterol; Dogs; Epithelial Cells; Epithelium; Eye; Humans; Lipids; Membranes; Metabolism, Inborn Errors; Mice; Microsomes; Mitochondria; Myelin Sheath; Nerve Endings; Nervous System; Neurons; Phosphatidylcholines; Phosphatidylethanolamines; Phosphatidylinositols; Phospholipids; Rats; Species Specificity; Synaptic Vesicles

1972
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
[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
[An enzymatic defect in cholesterol metabolism. Some views of cholesterol metabolism revealed by studies of a newly discovered familial metabolic disease].
    Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke, 1970, Jan-25, Volume: 90, Issue:2

    Topics: Acyltransferases; Adolescent; Adult; Anemia; Child, Preschool; Cholesterol; Humans; Lipoproteins; Metabolism, Inborn Errors; Phosphatidylcholines; Proteinuria; Triglycerides

1970
[Hereditary metabolic diseases].
    Saishin igaku. Modern medicine, 1971, Volume: 26, Issue:29

    Topics: Amyloidosis; Animals; Gaucher Disease; Humans; Infant, Newborn; Lung; Lung Diseases; Lymphatic Diseases; Metabolism, Inborn Errors; Niemann-Pick Diseases; Phosphatidylcholines; Pulmonary Alveolar Proteinosis; Pulmonary Emphysema; Pulmonary Fibrosis; Pulmonary Surfactants; Rats; Respiratory Distress Syndrome, Newborn; Trypsin Inhibitors

1971

Other Studies

34 other study(ies) available for phosphatidylcholines and Inborn Errors of Metabolism

ArticleYear
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
Uptake and metabolism of radioactively labeled sphingomyelin in cultured skin fibroblasts from controls and patients with Niemann-Pick disease and other lysosomal storage diseases.
    Biochimica et biophysica acta, 1983, Nov-01, Volume: 754, Issue:1

    Topics: Cell Line; Chemical Phenomena; Chemistry; Fibroblasts; Humans; Isotope Labeling; Metabolism, Inborn Errors; Niemann-Pick Diseases; Phosphatidylcholines; Skin; Sphingomyelins; Substrate Specificity

1983
[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
Abnormality of odd-numbered long-chain fatty acids in erythrocyte membrane lipids from patients with disorders of propionate metabolism.
    Pediatric research, 1989, Volume: 25, Issue:2

    Topics: Adolescent; Adult; Child; Child, Preschool; Erythrocyte Membrane; Fatty Acids; Humans; Infant; Infant, Newborn; Malonates; Membrane Lipids; Metabolism, Inborn Errors; Methylmalonic Acid; Phosphatidylcholines; Phosphatidylethanolamines; Propionates

1989
Sea-blue histiocytes in familial lecithin: cholesterol acyltransferase deficiency.
    Scandinavian journal of haematology, 1972, Volume: 9, Issue:2

    Topics: Acyltransferases; Adult; Bone Marrow; Bone Marrow Cells; Child, Preschool; Cholesterol; Female; Histiocytes; Humans; Male; Metabolism, Inborn Errors; Microscopy, Electron; Phosphatidylcholines; Spleen; Staining and Labeling

1972
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
Studies on the protein moiety of serum high density lipoprotein from patients with familial lecithin: cholesterol acyltransferase deficiency.
    Clinical genetics, 1972, Volume: 3, Issue:3

    Topics: Acyltransferases; Amino Acids; Apoproteins; Centrifugation, Density Gradient; Cholesterol; Chromatography, Gel; Electrophoresis, Disc; Humans; Lipoproteins; Lipoproteins, HDL; Metabolism, Inborn Errors; Molecular Weight; Phosphatidylcholines; Precipitin Tests; Urea

1972
Plasma lipoproteins in familial lecithin: cholesterol acyltransferase deficiency. Further studies of very low and low density lipoprotein abnormalities.
    The Journal of clinical investigation, 1973, Volume: 52, Issue:5

    Topics: Acyltransferases; Adult; Blood Protein Disorders; Cholesterol; Chromatography, Gel; Female; Humans; Lipoproteins; Lipoproteins, LDL; Lipoproteins, VLDL; Male; Metabolism, Inborn Errors; Microscopy, Electron; Molecular Weight; Phosphatidylcholines; Triglycerides; Ultracentrifugation

1973
The role of lecithin: cholesterol acyltransferase in the metabolism of plasma lipoproteins.
    Annales de biologie clinique, 1973, Volume: 31, Issue:2

    Topics: Acyltransferases; Animals; Cholesterol; Female; Half-Life; Humans; Lipoproteins; Lipoproteins, HDL; Lipoproteins, LDL; Lipoproteins, VLDL; Metabolism, Inborn Errors; Papio; Phosphatidylcholines; Protein Binding; Triglycerides

1973
Biochemical and clinical aspects of various lipoprotein patterns.
    Annales de biologie clinique, 1973, Volume: 31, Issue:2

    Topics: Acyltransferases; Amino Acids; Apoproteins; Cholestasis; Cholesterol; Hyperlipidemias; Hyperthyroidism; Hypothyroidism; Lipoproteins; Lipoproteins, HDL; Lipoproteins, LDL; Lipoproteins, VLDL; Metabolism, Inborn Errors; Peptides; Phosphatidylcholines

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
Familial lecithin:cholesterol acyltransferase deficiency. Report of a third Norwegian family with two afflicted members.
    Scandinavian journal of clinical and laboratory investigation. Supplementum, 1974, Volume: 137

    Topics: Acyltransferases; Aged; Cholesterol; Chromatography, Gas; Chromatography, Gel; Chromatography, Thin Layer; Chromosomes, Human, 16-18; Corneal Opacity; Esters; Female; Humans; Immunoelectrophoresis; Lipoproteins, LDL; Lysophosphatidylcholines; Male; Metabolism, Inborn Errors; Middle Aged; Norway; Pedigree; Phosphatidylcholines; Phosphatidylethanolamines; Phospholipids; Proteinuria; Sphingomyelins; 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
Corneal and fundus changes in familial LCAT-deficiency.
    Acta ophthalmologica, 1974, Volume: 52, Issue:2

    Topics: Acyltransferases; Angioid Streaks; Cholesterol; Corneal Opacity; Female; Fluorescein Angiography; Follow-Up Studies; Fundus Oculi; Humans; Male; Metabolism, Inborn Errors; Phosphatidylcholines; Proteinuria; Retinal Hemorrhage; Syndrome; Visual Acuity; Visual Fields

1974
[Amniocentesis indications and diagnostics].
    Revue medicale de la Suisse romande, 1974, Volume: 94, Issue:10

    Topics: Amniocentesis; Amniotic Fluid; Bilirubin; Chromosome Aberrations; Chromosome Disorders; Creatinine; Erythroblastosis, Fetal; Estriol; Female; Fetal Death; Fetal Diseases; Gestational Age; Humans; Karyotyping; Metabolism, Inborn Errors; Phosphatidylcholines; Pregnancy; Sex Determination Analysis; Sphingomyelins

1974
Demonstration of the abnormal lipoprotein of cholestasis, LP-X, by precipitation with polyanion.
    Scandinavian journal of gastroenterology, 1974, Volume: 9, Issue:5

    Topics: Acetyltransferases; Anions; Blood Protein Electrophoresis; Chemical Precipitation; Cholestasis; Cholesterol; Humans; Immunologic Techniques; Lipoproteins; Metabolism, Inborn Errors; Methods; Phosphatidylcholines

1974
Lipoproteins in LCAT-deficiency.
    Humangenetik, 1972, Volume: 16, Issue:4

    Topics: Acyltransferases; Adult; Blood Protein Electrophoresis; Child, Preschool; Cholestasis; Cholesterol; Humans; Lipoproteins; Male; Metabolism, Inborn Errors; Pedigree; Phosphatidylcholines

1972
Editorial: Familial LCAT deficiency.
    Acta medica Scandinavica, 1973, Volume: 194, Issue:5

    Topics: Acyltransferases; Adult; Anemia; Arteriosclerosis; Cholesterol; Corneal Opacity; Erythrocyte Aging; Female; Histiocytes; Humans; Kidney; Kidney Failure, Chronic; Lipids; Lipoproteins; Male; Metabolism, Inborn Errors; Middle Aged; Phosphatidylcholines; Proteinuria; Retina; Visual Acuity; Visual Fields

1973
Studies of lipoprotein-X (LP-X) and bile acids in familial LCAT deficiency. Preliminary report.
    Acta medica Scandinavica, 1973, Volume: 194, Issue:5

    Topics: Acyltransferases; Bile; Bile Acids and Salts; Cholesterol; Chromatography, Thin Layer; Humans; Immunoelectrophoresis; Lipoproteins; Metabolism, Inborn Errors; Phosphatidylcholines; Triglycerides

1973
Familial plasma lecithin: cholesterol acyltransferase (LCAT) deficiency. Ultrastructural aspects of a new syndrome with particular reference to lesions in the kidneys and the spleen.
    Acta pathologica et microbiologica Scandinavica. Section A, Pathology, 1973, Volume: 81, Issue:5

    Topics: Acyltransferases; Adult; Arteries; Basement Membrane; Biopsy; Cell Membrane; Cholesterol; Epithelial Cells; Female; Humans; Kidney; Kidney Glomerulus; Metabolism, Inborn Errors; Microscopy, Electron; Phosphatidylcholines; Spleen; Veins

1973
Plasma lecithin-cholesterol acyltransferase deficiency in a child with terminal pulmonary hyaline membrane disease.
    Archives of disease in childhood, 1973, Volume: 48, Issue:11

    Topics: Acyltransferases; Autopsy; Cholesterol; Chromatography, Thin Layer; Diarrhea; Humans; Hyaline Membrane Disease; Infant; Infant, Newborn; Lung; Lysophosphatidylcholines; Male; Metabolism, Inborn Errors; Phosphatidylcholines; Phospholipids; Triglycerides

1973
[Familial lecithin-cholesterol-acyltransferase-deficiency].
    Ugeskrift for laeger, 1974, Jan-21, Volume: 136, Issue:4

    Topics: Acyltransferases; Anemia; Cholesterol; Corneal Opacity; Humans; Metabolism, Inborn Errors; Phosphatidylcholines; Proteinuria

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
An inborn error of vitamin B12 metabolism associated with cellular deficiency of coenzyme forms of the vitamin. Pathological and neurochemical findings in one case.
    Journal of the neurological sciences, 1974, Volume: 23, Issue:1

    Topics: Anemia, Macrocytic; Atrophy; Autopsy; Blood Vessels; Brain; Brain Chemistry; Cerebrosides; Child; Cholesterol; Chromatography, Thin Layer; Demyelinating Diseases; Esters; Fatty Acids; Fatty Acids, Unsaturated; Female; Galactose; Gliosis; Globus Pallidus; Homocystinuria; Humans; Malonates; Metabolism, Inborn Errors; Phosphatidylcholines; Phospholipids; Sphingomyelins; Sulfoglycosphingolipids; Vitamin B 12

1974
Presence of (alpha)-1-lipoprotein in patients with familial plasma lecithin: cholesterol acyltransferase deficiency.
    Scandinavian journal of clinical and laboratory investigation, 1969, Volume: 24, Issue:2

    Topics: Acyltransferases; Adult; Blood Proteins; Cholesterol; Chromatography, Gel; Female; Humans; Immunodiffusion; Immunoelectrophoresis; Lipoproteins; Metabolism, Inborn Errors; Phosphatidylcholines; Phospholipids; Triglycerides

1969
Post-heparin plasma phospholipases in normals and patients with hyperlipoproteinemia.
    Klinische Wochenschrift, 1972, Jan-01, Volume: 50, Issue:1

    Topics: Blood Protein Disorders; Carbon Isotopes; Heparin; Humans; Hydrolysis; Lipase; Lipoproteins; Metabolism, Inborn Errors; Phosphatidylcholines; Phospholipases; Temperature; Triglycerides; Tritium

1972
Liposomes as carriers of enzymes or drugs: a new approach to the treatment of storage diseases.
    The Biochemical journal, 1971, Volume: 124, Issue:5

    Topics: Animals; Aspergillus; Autoradiography; Cholesterol; Glycoside Hydrolases; Liver; Lysosomes; Membranes, Artificial; Metabolism, Inborn Errors; Phosphatidylcholines; Phospholipids; Rats; Serum Albumin, Radio-Iodinated; Spleen; Tritium

1971
Familial lecithin: cholesterol acyltransferase deficiency. Study of two new patients and their close relatives.
    Acta medica Scandinavica, 1970, Volume: 188, Issue:4

    Topics: Acyltransferases; Adult; Anemia; Blood Protein Electrophoresis; Blood Proteins; Cholesterol; Cornea; Female; Humans; Lipoproteins; Male; Metabolism, Inborn Errors; Phosphatidylcholines; Phosphatidylethanolamines; Proteinuria; Sphingomyelins

1970
Familial plasma lecithin: cholesterol acyltransferase deficiency. A study of the platelets.
    Scandinavian journal of clinical and laboratory investigation, 1971, Volume: 27, Issue:3

    Topics: Acyltransferases; Blood Coagulation; Blood Platelet Disorders; Blood Platelets; Cholesterol; Erythrocytes; Fatty Acids; Female; Humans; Linoleic Acids; Lipids; Metabolism, Inborn Errors; Phosphatidylcholines; Phospholipids; Plasma; Platelet Adhesiveness

1971