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phytanic acid and Metabolism, Inborn Errors

phytanic acid has been researched along with Metabolism, Inborn Errors in 9 studies

Research

Studies (9)

TimeframeStudies, this research(%)All Research%
pre-19902 (22.22)18.7374
1990's6 (66.67)18.2507
2000's1 (11.11)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Molzer, B1
Baumgartner, MR; Bellet, H; Espeel, M; Fourmaintraux, A; Jakobs, C; Jansen, GA; Mooyer, PA; Roels, F; Saudubray, JM; Verhoeven, NM; Wanders, RJ1
Hakkola, E; Hiltunen, K; Kilponen, J; Palosaari, P1
Jakobs, C; Kok, RM; Schor, DS; Stellaard, F; ten Brink, HJ; van den Heuvel, CM; Wanders, RJ1
Beemer, FA; Donckerwolcke, RA; Dorland, L; Duran, M; Espeel, M; Jakobs, C; Roels, F; Schutgens, RB; Smeitink, JA; Wanders, RJ1
Craft, DA; Rizzo, WB; Zenger-Hain, J1
Kaczmarski, F; Kaluza, J; Klimek, M; Pietrzyk, JJ; Turowska-Heydel, D1
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

Reviews

3 review(s) available for phytanic acid and Metabolism, Inborn Errors

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
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

6 other study(ies) available for phytanic acid and Metabolism, Inborn Errors

ArticleYear
Atypical refsum disease with pipecolic acidemia and abnormal catalase distribution.
    Annals of neurology, 2000, Volume: 47, Issue:1

    Topics: Child; Female; Humans; Metabolism, Inborn Errors; Mixed Function Oxygenases; Phytanic Acid; Pipecolic Acids; Refsum Disease

2000
Pristanic acid and phytanic acid in plasma from patients with peroxisomal disorders: stable isotope dilution analysis with electron capture negative ion mass fragmentography.
    Journal of lipid research, 1992, Volume: 33, Issue:1

    Topics: Aging; Child, Preschool; Fatty Acids; Gas Chromatography-Mass Spectrometry; Humans; Indicator Dilution Techniques; Infant; Infant, Newborn; Metabolism, Inborn Errors; Microbodies; Phytanic Acid; Refsum Disease

1992
Bone dysplasia associated with phytanic acid accumulation and deficient plasmalogen synthesis: a peroxisomal entity amenable to plasmapheresis.
    Journal of inherited metabolic disease, 1992, Volume: 15, Issue:3

    Topics: Chondrodysplasia Punctata; Female; Humans; Infant; Liver; Metabolism, Inborn Errors; Microbodies; Microscopy, Electron; Phytanic Acid; Plasmalogens; Plasmapheresis

1992
Diagnosis of inborn errors of phytanic acid oxidation using tritiated phytanic acid.
    Progress in clinical and biological research, 1992, Volume: 375

    Topics: Cells, Cultured; Fibroblasts; Humans; Metabolism, Inborn Errors; Oxidation-Reduction; Phytanic Acid; Sensitivity and Specificity; Solubility; Tritium

1992
Two siblings with phenotypes mimicking peroxisomal disorders but with discordant biochemical findings.
    Clinical pediatrics, 1990, Volume: 29, Issue:8

    Topics: Diagnosis, Differential; Fatty Acids; Female; Fibroblasts; Humans; Infant; Male; Metabolism, Inborn Errors; Microbodies; Phenotype; Phytanic Acid; Zellweger Syndrome

1990
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