phytanic acid has been researched along with Metabolism, Inborn Errors in 9 studies
Timeframe | Studies, this research(%) | All Research% |
---|---|---|
pre-1990 | 2 (22.22) | 18.7374 |
1990's | 6 (66.67) | 18.2507 |
2000's | 1 (11.11) | 29.6817 |
2010's | 0 (0.00) | 24.3611 |
2020's | 0 (0.00) | 2.80 |
Authors | Studies |
---|---|
Molzer, B | 1 |
Baumgartner, MR; Bellet, H; Espeel, M; Fourmaintraux, A; Jakobs, C; Jansen, GA; Mooyer, PA; Roels, F; Saudubray, JM; Verhoeven, NM; Wanders, RJ | 1 |
Hakkola, E; Hiltunen, K; Kilponen, J; Palosaari, P | 1 |
Jakobs, C; Kok, RM; Schor, DS; Stellaard, F; ten Brink, HJ; van den Heuvel, CM; Wanders, RJ | 1 |
Beemer, FA; Donckerwolcke, RA; Dorland, L; Duran, M; Espeel, M; Jakobs, C; Roels, F; Schutgens, RB; Smeitink, JA; Wanders, RJ | 1 |
Craft, DA; Rizzo, WB; Zenger-Hain, J | 1 |
Kaczmarski, F; Kaluza, J; Klimek, M; Pietrzyk, JJ; Turowska-Heydel, D | 1 |
Heymans, HS; Schrakamp, G; Schram, AW; Schutgens, RB; Tager, JM; van den Bosch, H; Wanders, RJ | 1 |
Barth, PG; Bleeker-Wagemakers, EM; Derix, M; Heymans, HS; Jansonius-Schultheiss, K; Moser, AE; Moser, HW; Nelck, GF; Schutgens, RB; Wanders, RJ | 1 |
3 review(s) available for phytanic acid and Metabolism, Inborn Errors
Article | Year |
---|---|
Diagnosis of peroxisomal disorders with neurological involvement.
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].
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.
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 |
6 other study(ies) available for phytanic acid and Metabolism, Inborn Errors
Article | Year |
---|---|
Atypical refsum disease with pipecolic acidemia and abnormal catalase distribution.
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.
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.
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.
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.
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.
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 |