phytanic acid has been researched along with Retinitis Pigmentosa in 14 studies
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 6 (42.86) | 18.7374 |
| 1990's | 1 (7.14) | 18.2507 |
| 2000's | 4 (28.57) | 29.6817 |
| 2010's | 2 (14.29) | 24.3611 |
| 2020's | 1 (7.14) | 2.80 |
| Authors | Studies |
|---|---|
| Kim, JJ; Li, JJ; Nausheen, F | 1 |
| Bunia, J; Heibges, A; Kalb, K; Klingel, R; Wagner, S; Zolotov, D | 1 |
| Beaulieu, CL; Boycott, KM; Bulman, DE; Ferdinandusse, S; Geraghty, MT; Gottlieb, CC; Lawrence, SE; Mackenzie, A; Majewski, J; McMillan, HJ; Mooyer, PA; Schwartzentruber, J; Wanders, RJ; Worthylake, T | 1 |
| Alger, S; Burdon, MA; Chavda, S; Clarke, CE; Denis, S; Ferdinandusse, S; Preece, MA; Wanders, RJ | 1 |
| Rüther, K | 1 |
| Finsterer, J; Regelsberger, G; Voigtländer, T | 1 |
| Bailes, J; Billimoria, JD; Clemens, ME; Gibberd, FB; Masters-Thomas, A; Page, NG | 1 |
| Cotticelli, L; Di Meo, A; Rinaldi, E; Romano, A | 1 |
| Defontaines, B; Degos, CF; Jung, P; Marcaud, V | 1 |
| Claridge, KG; Gibberd, FB; Sidey, MC | 1 |
| Budden, SS; Buist, NR; Kennaway, NG; Poulos, A; Weleber, RG | 1 |
| Billimoria, JD; Clemens, ME; Gibberd, FB; Goldman, JM | 1 |
| Nyberg-Hansen, R; Skjeldal, OH; Stokke, O | 1 |
2 review(s) available for phytanic acid and Retinitis Pigmentosa
| Article | Year |
|---|---|
Tremor and deep white matter changes in alpha-methylacyl-CoA racemase deficiency.
Topics: Brain; Combined Modality Therapy; Depressive Disorder; Dysarthria; Electroencephalography; Fatty Acids; Female; Humans; Magnetic Resonance Imaging; Middle Aged; Paresis; Peroxisomal Disorders; Phytanic Acid; Plasma Exchange; Racemases and Epimerases; Reflex, Abnormal; Retinitis Pigmentosa; Treatment Failure; Tremor | 2004 |
[Adult Refsum disease. A retinal dystrophy with therapeutic options].
Topics: Adult; Diet Therapy; Humans; Phytanic Acid; Practice Guidelines as Topic; Practice Patterns, Physicians'; Prognosis; Refsum Disease; Retinitis Pigmentosa; Treatment Outcome | 2005 |
12 other study(ies) available for phytanic acid and Retinitis Pigmentosa
| Article | Year |
|---|---|
Phytanic Acid Intake and Lifestyle Modifications on Quality of Life in Individuals with Adult Refsum Disease: A Retrospective Survey Analysis.
Topics: Adolescent; Adult; Child; Child, Preschool; Female; Humans; Life Style; Male; Middle Aged; Phytanic Acid; Quality of Life; Refsum Disease; Retinitis Pigmentosa; Retrospective Studies; Young Adult | 2023 |
Long-term strategies for the treatment of Refsum's disease using therapeutic apheresis.
Topics: Aged; Blood Component Removal; Female; Humans; Lipids; Lipoproteins; Male; Middle Aged; Phytanic Acid; Polyneuropathies; Refsum Disease; Retinitis Pigmentosa; Retrospective Studies | 2012 |
Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency.
Topics: 17-Hydroxysteroid Dehydrogenases; Cerebellar Ataxia; Fatty Acids; Hearing Loss, Sensorineural; Heterozygote; Hydro-Lyases; Mutation; Peroxisomal Multifunctional Protein-2; Phytanic Acid; Polyneuropathies; Retinitis Pigmentosa | 2012 |
Refsum disease due to the splice-site mutation c.135-2A>G before exon 3 of the PHYH gene, diagnosed eight years after detection of retinitis pigmentosa.
Topics: Diet; DNA; Exons; Female; Gas Chromatography-Mass Spectrometry; Humans; Middle Aged; Mixed Function Oxygenases; Mutation; Neurologic Examination; Phytanic Acid; Refsum Disease; Retinitis Pigmentosa; RNA Splice Sites; Triglycerides | 2008 |
Heredopathia atactica polyneuritiformis (Refsum's disease): 1. Clinical features and dietary management.
Topics: Adipose Tissue; Adult; Diet; Dietary Proteins; Humans; Linoleic Acids; Male; Phytanic Acid; Refsum Disease; Retinitis Pigmentosa | 1980 |
Ocular findings in Refsum's disease.
Topics: Adaptation, Ocular; Adult; Electroretinography; Female; Humans; Pedigree; Phytanic Acid; Refsum Disease; Retina; Retinitis Pigmentosa | 1981 |
Management of retinitis pigmentosa.
Topics: Eyeglasses; Humans; Phytanic Acid; Retinitis Pigmentosa; Vitamin A | 1980 |
[Refsum's disease: evolution 35 years after diagnosis].
Topics: Adult; Ataxia; Cataract; Diet; Disease Progression; Electromyography; Facial Paralysis; Female; Follow-Up Studies; Humans; Mixed Function Oxygenases; Paresthesia; Peroxisomes; Phytanic Acid; Refsum Disease; Retinitis Pigmentosa | 2002 |
Refsum disease: the presentation and ophthalmic aspects of Refsum disease in a series of 23 patients.
Topics: Adult; Aged; Cataract; Female; Humans; Male; Middle Aged; Phytanic Acid; Refsum Disease; Retinitis Pigmentosa; Retrospective Studies; Visual Acuity; Visual Fields | 1992 |
Dysmorphic syndrome with phytanic acid oxidase deficiency, abnormal very long chain fatty acids, and pipecolic acidemia: studies in four children.
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 |
Screening of patients with retinitis pigmentosa for heredopathia atactica polyneuritiformis (Refsum's disease).
Topics: Adolescent; Adult; Aged; Child; Deafness; Female; Humans; Male; Middle Aged; Phytanic Acid; Polyneuropathies; Refsum Disease; Retinitis Pigmentosa | 1985 |
Neurological disorders and phytanic acid metabolism.
Topics: Adolescent; Adult; Aged; Cerebellar Diseases; Child; Eicosanoic Acids; Female; Humans; Male; Middle Aged; Mixed Function Oxygenases; Oxidoreductases; Phytanic Acid; Polyneuropathies; Retinitis Pigmentosa | 1988 |