Page last updated: 2024-08-23

phytanic acid and Syndrome

phytanic acid has been researched along with Syndrome in 13 studies

Research

Studies (13)

TimeframeStudies, this research(%)All Research%
pre-199012 (92.31)18.7374
1990's1 (7.69)18.2507
2000's0 (0.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Poulos, A; Sharp, P; Whiting, M1
Seyama, Y1
Carroll, JE; Hahn, DA; Rizzo, WB; Roesel, RA; van der Zalm, T1
Danks, DM; Fellenberg, AJ; Poulos, A; Sharp, P1
Budden, SS; Buist, NR; Kennaway, NG; Poulos, A; Weleber, RG1
Norseth, J; Petit, H; Refsum, S; Skjeldal, OH; Stokke, O1
Kolodny, EH1
Barth, PG; Berger, R; Eggelte, TA; Heymans, HS; Przyrembel, H; Schierbeek, H; Schutgens, RB; Smit, GP; Smit, W; Wanders, RJ1
Hall, NA; Hjelm, NM; Lynes, GW1
Heymans, HS; Schrakamp, G; Schram, AW; Schutgens, RB; Tager, JM; van den Bosch, H; Wanders, RJ1
Barth, PG; Bleeker-Wagemakers, EM; Derix, M; Heymans, HS; Jansonius-Schultheiss, K; Moser, AE; Moser, HW; Nelck, GF; Schutgens, RB; Wanders, RJ1
Becroft, DM; Brandt, N; Carey, WF; Christensen, E; Poll-The, BT; Poulos, A; Robertson, E; Saudubray, JM; Sharp, P; van Crugten, C1
Björkhem, I; Ek, J; Kase, BF; Pedersen, JI; Reith, A1

Reviews

2 review(s) available for phytanic acid and Syndrome

ArticleYear
[Metabolic disorders of neutral lipids and cholesterol in the nervous system (author's transl)].
    Tanpakushitsu kakusan koso. Protein, nucleic acid, enzyme, 1977, Volume: 22, Issue:6

    Topics: Brain Diseases; Cholestanols; Humans; Lipidoses; Mucopolysaccharidoses; Phytanic Acid; Refsum Disease; Syndrome; Xanthomatosis

1977
Zellweger syndrome: biochemical procedures in diagnosis, prevention and treatment.
    Journal of inherited metabolic disease, 1987, Volume: 10 Suppl 1

    Topics: Bile Acids and Salts; Brain Diseases; Catalase; Enzymes; Fatty Acids; Humans; Kidney Diseases; Liver Diseases; Metabolism, Inborn Errors; Microbodies; Phytanic Acid; Pipecolic Acids; Plasmalogens; Syndrome

1987

Other Studies

11 other study(ies) available for phytanic acid and Syndrome

ArticleYear
Infantile Refsum's disease (phytanic acid storage disease): a variant of Zellweger's syndrome?
    Clinical genetics, 1984, Volume: 26, Issue:6

    Topics: Abnormalities, Multiple; Cells, Cultured; Eicosanoic Acids; Fibroblasts; Genetic Variation; Humans; Infant; Phytanic Acid; Refsum Disease; Skin; Syndrome

1984
Dyggve-Melchior-Clausen syndrome with increased pipecolic acid in plasma and urine.
    Journal of inherited metabolic disease, 1991, Volume: 14, Issue:6

    Topics: Bone Diseases, Developmental; Child; Dwarfism; Fatty Acids; Fibroblasts; Humans; Intellectual Disability; Male; Microbodies; Phytanic Acid; Pipecolic Acids; Plasmalogens; Syndrome

1991
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
Dysmorphic syndrome with phytanic acid oxidase deficiency, abnormal very long chain fatty acids, and pipecolic acidemia: studies in four children.
    The Journal of pediatrics, 1986, Volume: 108, Issue:1

    Topics: Child; Child, Preschool; Developmental Disabilities; Diagnosis, Differential; Eicosanoic Acids; Fatty Acids; Female; Fibroblasts; Hearing Loss, Sensorineural; Hepatomegaly; Humans; Infant, Newborn; Liver; Male; Mixed Function Oxygenases; Muscle Tonus; Oxidoreductases; Phytanic Acid; Pipecolic Acids; Refsum Disease; Retinitis Pigmentosa; Syndrome

1986
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
Age-related accumulation of phytanic acid in plasma from patients with the cerebro-hepato-renal (Zellweger) syndrome.
    Clinica chimica acta; international journal of clinical chemistry, 1987, Jun-30, Volume: 166, Issue:1

    Topics: Age Factors; Brain; Child, Preschool; Eicosanoic Acids; Female; Humans; Infant; Infant, Newborn; Kidney; Liver; Male; Phytanic Acid; Refsum Disease; Syndrome

1987
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
A sibship with a mild variant of Zellweger syndrome.
    Journal of inherited metabolic disease, 1987, Volume: 10, Issue:3

    Topics: Acyltransferases; Bile Acids and Salts; Brain Diseases; Child; Child, Preschool; Fatty Acids; Female; Fibroblasts; Humans; Kidney Diseases; Liver; Liver Diseases; Male; Metabolism, Inborn Errors; Microbodies; Phytanic Acid; Pipecolic Acids; Syndrome

1987
Prenatal diagnosis of Zellweger syndrome and related disorders: impaired degradation of phytanic acid.
    European journal of pediatrics, 1986, Volume: 145, Issue:6

    Topics: Adult; Amniotic Fluid; Chorionic Villi; Eicosanoic Acids; Facial Bones; Female; Humans; In Vitro Techniques; Kidney Diseases; Liver Diseases; Male; Oxidation-Reduction; Phytanic Acid; Pregnancy; Prenatal Diagnosis; Skull; Syndrome

1986
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