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phytanic acid and Adrenoleukodystrophy

phytanic acid has been researched along with Adrenoleukodystrophy in 25 studies

Research

Studies (25)

TimeframeStudies, this research(%)All Research%
pre-199010 (40.00)18.7374
1990's12 (48.00)18.2507
2000's1 (4.00)29.6817
2010's0 (0.00)24.3611
2020's2 (8.00)2.80

Authors

AuthorsStudies
Scott, AI1
De Biase, I; Pasquali, M1
Horibe, R; Kondo, N; Shimozawa, N; Suzuki, Y; Takemoto, Y; Wanders, RJ1
Poulos, A; Sharp, P1
Applegarth, D; Vallance, H1
Molzer, B; Schmitt, K; Stöckler, S; Tulzer, G; Tulzer, W1
Eyssen, HJ; Huang, S; Mannaerts, GP; Van Veldhoven, PP1
Bernheimer, H; Gullotta, F; Harzer, K; Molzer, B; Poulos, A1
Molzer, B1
McGuinness, MC; Moser, AB; Poll-The, BT; Watkins, PA1
Dhaunsi, GS; Lazo, O; Ozand, P; Pahan, K; Singh, I1
Cocquyt, G; Dacremont, G; Vincent, G1
Braiterman, LT; Moser, AB; Smith, KD; Watkins, PA1
Hakkola, E; Hiltunen, K; Kilponen, J; Palosaari, P1
Demaugre, F; Poll-The, BT; Saudubray, JM; Skjeldal, OH; Stokke, O1
Kamoshita, S1
Danks, DM; Fellenberg, AJ; Poulos, A; Sharp, P1
Norseth, J; Petit, H; Refsum, S; Skjeldal, OH; Stokke, O1
Kolodny, EH1
Baldwin, V; Charrow, J; Chen, WW; Friedman, JM; Hoefler, G; Hoefler, S; McGillivary, B; Moser, A; Rutledge, L; Watkins, PA1
Fellenberg, AJ; Johnson, DW; Poulos, A; Sharp, P1
Hall, NA; Hjelm, NM; Lynes, GW1
Demaugre, F; Poll-The, BT; Poulos, A; Saudubray, JM; Skjeldal, OH; Stokke, O1
Bernheimer, H; Kainz-Korschinsky, M; Molzer, B; Sundt-Heller, R1
Björkhem, I; Ek, J; Kase, BF; Pedersen, JI; Reith, A1

Reviews

3 review(s) available for phytanic acid and Adrenoleukodystrophy

ArticleYear
Diagnosis of peroxisomal disorders with neurological involvement.
    Padiatrie und Padologie, 1993, Volume: 28, Issue:1

    Topics: Adrenoleukodystrophy; Fatty Acids; Humans; Infant, Newborn; Metabolism, Inborn Errors; Microbodies; Nervous System Diseases; Phytanic Acid; Zellweger Syndrome

1993
[Peroxisomal diseases--pediatric and neurologic differential diagnosis].
    Duodecim; laaketieteellinen aikakauskirja, 1991, Volume: 107, Issue:2

    Topics: Adrenoleukodystrophy; Child, Preschool; Diagnosis, Differential; Fatty Acids; Genetic Counseling; Humans; Infant; Intellectual Disability; Metabolism, Inborn Errors; Microbodies; Phytanic Acid

1991
[Peroxisomal disorders; newer concept and recent studies].
    Nihon rinsho. Japanese journal of clinical medicine, 1990, Volume: 48, Issue:3

    Topics: Adrenoleukodystrophy; Bile Acids and Salts; Diffuse Cerebral Sclerosis of Schilder; Humans; Microbodies; Phytanic Acid; Pipecolic Acids; Plasmalogens; Zellweger Syndrome

1990

Other Studies

22 other study(ies) available for phytanic acid and Adrenoleukodystrophy

ArticleYear
Very-Long-Chain Fatty Acids Quantification by Gas-Chromatography Mass Spectrometry.
    Methods in molecular biology (Clifton, N.J.), 2022, Volume: 2546

    Topics: Adrenoleukodystrophy; Fatty Acids; Gas Chromatography-Mass Spectrometry; Humans; Phytanic Acid; Solvents

2022
Quantification of Very-Long-Chain and Branched-Chain Fatty Acids in Plasma by Liquid Chromatography-Tandem Mass Spectrometry.
    Methods in molecular biology (Clifton, N.J.), 2022, Volume: 2546

    Topics: Adrenoleukodystrophy; ATP-Binding Cassette Transporters; Bile Acids and Salts; Chromatography, Liquid; Coenzyme A; Deanol; Esters; Fatty Acids; Humans; Iodides; Peroxisomal Disorders; Phytanic Acid; Tandem Mass Spectrometry

2022
Gas chromatography/mass spectrometry analysis of very long chain fatty acids, docosahexaenoic acid, phytanic acid and plasmalogen for the screening of peroxisomal disorders.
    Brain & development, 2003, Volume: 25, Issue:7

    Topics: Adolescent; Adrenoleukodystrophy; Case-Control Studies; Docosahexaenoic Acids; Fatty Acids; Gas Chromatography-Mass Spectrometry; Humans; Infant; Peroxisomal Disorders; Phytanic Acid; Plasmalogens; Refsum Disease; Zellweger Syndrome

2003
Plasma and skin fibroblast C26 fatty acids in infantile Refsum's disease.
    Neurology, 1984, Volume: 34, Issue:12

    Topics: Adrenoleukodystrophy; Child, Preschool; Fatty Acids; Female; Fibroblasts; Humans; Infant; Male; Phytanic Acid; Refsum Disease; Skin

1984
An improved method for quantification of very long chain fatty acids in plasma.
    Clinical biochemistry, 1994, Volume: 27, Issue:3

    Topics: Adrenoleukodystrophy; Adult; Chondrodysplasia Punctata; Fatty Acids; Female; Gas Chromatography-Mass Spectrometry; Humans; Male; Microbodies; Molecular Weight; Phytanic Acid; Reference Standards; Reference Values; Refsum Disease; Reproducibility of Results; Zellweger Syndrome

1994
[Zellweger syndrome, neonatal adrenoleukodystrophy or infantile Refsum's disease in a case with generalized peroxisome defect?].
    Wiener klinische Wochenschrift, 1993, Volume: 105, Issue:11

    Topics: Adrenoleukodystrophy; Catalase; Fatty Acids; Humans; Infant; Male; Microbodies; Phytanic Acid; Plasmalogens; Refsum Disease; Zellweger Syndrome

1993
The deficient degradation of synthetic 2- and 3-methyl-branched fatty acids in fibroblasts from patients with peroxisomal disorders.
    Journal of inherited metabolic disease, 1993, Volume: 16, Issue:2

    Topics: Adrenoleukodystrophy; Cell Line; Fatty Acids; Fibroblasts; Humans; Kinetics; Microbodies; Oxidation-Reduction; Palmitates; Phytanic Acid; Refsum Disease; X Chromosome; Zellweger Syndrome

1993
Unusual orthochromatic leukodystrophy with epitheloid cells (Norman-Gullotta): increase of very long chain fatty acids in brain discloses a peroxisomal disorder.
    Acta neuropathologica, 1993, Volume: 86, Issue:2

    Topics: Adrenoleukodystrophy; Aged; Aged, 80 and over; Brain; Brain Chemistry; Cholesterol Esters; Fatty Acids; Humans; Microbodies; Phytanic Acid

1993
Complementation analysis of patients with intact peroxisomes and impaired peroxisomal beta-oxidation.
    Biochemical medicine and metabolic biology, 1993, Volume: 49, Issue:2

    Topics: 3-Hydroxyacyl CoA Dehydrogenases; Adrenoleukodystrophy; Cell Line; Enoyl-CoA Hydratase; Fatty Acids; Humans; Immunoblotting; Microbodies; Oxidation-Reduction; Phytanic Acid; Zellweger Syndrome

1993
Phytanic acid alpha-oxidation. Differential subcellular localization in rat and human tissues and its inhibition by nycodenz.
    The Journal of biological chemistry, 1993, May-15, Volume: 268, Issue:14

    Topics: Adrenoleukodystrophy; Animals; Cell Fractionation; Cells, Cultured; Centrifugation, Density Gradient; Chlorides; Chondrodysplasia Punctata; Epoxy Compounds; Fatty Acids; Ferric Compounds; Fibroblasts; Humans; Hypoglycemic Agents; Iohexol; Kinetics; Liver; Microbodies; Mitochondria; Organelles; Oxidation-Reduction; Palmitic Acid; Palmitic Acids; Phytanic Acid; Rats; Rats, Sprague-Dawley; Skin; Subcellular Fractions; Zellweger Syndrome

1993
Measurement of very long-chain fatty acids, phytanic and pristanic acid in plasma and cultured fibroblasts by gas chromatography.
    Journal of inherited metabolic disease, 1995, Volume: 18 Suppl 1

    Topics: Adrenoleukodystrophy; Cells, Cultured; Chromatography, Gas; Esters; Fatty Acids; Fibroblasts; Humans; Indicators and Reagents; Phytanic Acid; Solutions; Solvents

1995
Peroxisomal very long chain fatty acid beta-oxidation activity is determined by the level of adrenodeukodystrophy protein (ALDP) expression.
    Molecular genetics and metabolism, 1999, Volume: 66, Issue:2

    Topics: Adrenoleukodystrophy; ATP Binding Cassette Transporter, Subfamily D, Member 1; ATP-Binding Cassette Transporters; Cell Line; Cell Line, Transformed; Fatty Acids, Nonesterified; Fibroblasts; Humans; Membrane Proteins; Microbodies; Oxidation-Reduction; Phytanic Acid; Reference Values; Simian virus 40; Skin

1999
Complementation analysis of peroxisomal disorders and classical Refsum.
    Progress in clinical and biological research, 1990, Volume: 321

    Topics: Adrenoleukodystrophy; Cells, Cultured; Diffuse Cerebral Sclerosis of Schilder; Fibroblasts; Genetic Complementation Test; Humans; Infant; Microbodies; Phytanic Acid; Refsum Disease; Zellweger Syndrome

1990
Cerebro-hepato-renal (Zellweger) syndrome, adrenoleukodystrophy, and Refsum's disease: plasma changes and skin fibroblast phytanic acid oxidase.
    Human genetics, 1985, Volume: 70, Issue:2

    Topics: Adrenoleukodystrophy; Brain Diseases; Cells, Cultured; Child, Preschool; Chromatography, Gas; Diffuse Cerebral Sclerosis of Schilder; Eicosanoic Acids; Fatty Acids; Female; Fibroblasts; Genetic Linkage; Humans; Infant; Infant, Newborn; Kidney Diseases; Liver Diseases; Male; Mixed Function Oxygenases; Oxidoreductases; Phytanic Acid; Pipecolic Acids; Refsum Disease; Skin; Syndrome; X Chromosome

1985
Clinical and biochemical heterogeneity in conditions with phytanic acid accumulation.
    Journal of the neurological sciences, 1987, Volume: 77, Issue:1

    Topics: Adrenoleukodystrophy; Adult; Aged; Eicosanoic Acids; Female; Fibroblasts; Humans; Male; Middle Aged; Mixed Function Oxygenases; Oxidoreductases; Phytanic Acid; Refsum Disease; Skin; Syndrome

1987
The adrenoleukodystrophy-adrenomyeloneuropathy complex: is it treatable?
    Annals of neurology, 1987, Volume: 21, Issue:3

    Topics: Adrenoleukodystrophy; Dietary Fats; Diffuse Cerebral Sclerosis of Schilder; Fatty Acids; Heterozygote; Humans; Oleic Acid; Oleic Acids; Phytanic Acid; Refsum Disease; Syndrome

1987
Biochemical abnormalities in rhizomelic chondrodysplasia punctata.
    The Journal of pediatrics, 1988, Volume: 112, Issue:5

    Topics: Acetyl-CoA C-Acyltransferase; Adrenoleukodystrophy; Chondrodysplasia Punctata; Female; Fibroblasts; Humans; Infant; Infant, Newborn; Liver; Male; Microbodies; Phytanic Acid; Plasmalogens; Refsum Disease

1988
Accumulation of pristanic acid (2, 6, 10, 14 tetramethylpentadecanoic acid) in the plasma of patients with generalised peroxisomal dysfunction.
    European journal of pediatrics, 1988, Volume: 147, Issue:2

    Topics: Adrenoleukodystrophy; Chondrodysplasia Punctata; Fatty Acids; Humans; Lipidoses; Microbodies; Phytanic Acid; Refsum Disease

1988
Ratios for very-long-chain fatty acids in plasma of subjects with peroxisomal disorders, as determined by HPLC and validated by gas chromatography-mass spectrometry.
    Clinical chemistry, 1988, Volume: 34, Issue:6

    Topics: Adolescent; Adrenoleukodystrophy; Adult; Aging; Child; Child, Preschool; Chromatography, High Pressure Liquid; Fatty Acids; Female; Gas Chromatography-Mass Spectrometry; Humans; Infant; Infant, Newborn; Lipid Metabolism, Inborn Errors; Male; Microbodies; Middle Aged; Phytanic Acid; Reference Values; Refsum Disease; Syndrome

1988
Phytanic acid alpha-oxidation and complementation analysis of classical Refsum and peroxisomal disorders.
    Human genetics, 1989, Volume: 81, Issue:2

    Topics: Adrenoleukodystrophy; Cells, Cultured; Chondrodysplasia Punctata; Eicosanoic Acids; Fibroblasts; Genetic Complementation Test; Humans; Microbodies; Oxidation-Reduction; Phytanic Acid; Refsum Disease; Zellweger Syndrome

1989
Phytanic acid and very long chain fatty acids in genetic peroxisomal disorders.
    Journal of clinical chemistry and clinical biochemistry. Zeitschrift fur klinische Chemie und klinische Biochemie, 1989, Volume: 27, Issue:5

    Topics: Adrenal Glands; Adrenoleukodystrophy; Brain; Cholesterol Esters; Eicosanoic Acids; Fatty Acids; Humans; Kidney; Lipid Metabolism, Inborn Errors; Microbodies; Phytanic Acid; Refsum Disease; Zellweger Syndrome

1989
Peroxisomal dysfunction in a boy with neurologic symptoms and amaurosis (Leber disease): clinical and biochemical findings similar to those observed in Zellweger syndrome.
    The Journal of pediatrics, 1986, Volume: 108, Issue:1

    Topics: Adrenoleukodystrophy; Biopsy; Blindness; Brain Diseases; Cells, Cultured; Diagnosis, Differential; Female; Fibroblasts; Hearing Loss, Sensorineural; Hepatomegaly; Humans; Infant; Intellectual Disability; Kidney Diseases; Liver; Liver Diseases; Male; Microbodies; Oxidation-Reduction; Phytanic Acid; Plasmalogens; Syndrome

1986