phytanic acid has been researched along with Cochlear Hearing Loss in 4 studies
Timeframe | Studies, this research(%) | All Research% |
---|---|---|
pre-1990 | 2 (50.00) | 18.7374 |
1990's | 0 (0.00) | 18.2507 |
2000's | 1 (25.00) | 29.6817 |
2010's | 1 (25.00) | 24.3611 |
2020's | 0 (0.00) | 2.80 |
Authors | Studies |
---|---|
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 |
Bamiou, DE; Gibberd, FB; Luxon, LM; Sidey, MC; Spraggs, PR | 1 |
Budden, SS; Buist, NR; Kennaway, NG; Poulos, A; Weleber, RG | 1 |
Björkhem, I; Ek, J; Kase, BF; Pedersen, JI; Reith, A | 1 |
4 other study(ies) available for phytanic acid and Cochlear Hearing Loss
Article | Year |
---|---|
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 |
Hearing loss in adult Refsum's disease.
Topics: Acoustic Impedance Tests; Adult; Aged; Audiometry, Pure-Tone; Diet Therapy; Evoked Potentials, Auditory, Brain Stem; Eye Movements; Gait; Hearing Loss, Sensorineural; Humans; Middle Aged; Otoscopy; Phytanic Acid; Reflex, Acoustic; Refsum Disease; Retrospective Studies | 2003 |
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 |
Peroxisomal dysfunction in a boy with neurologic symptoms and amaurosis (Leber disease): clinical and biochemical findings similar to those observed in Zellweger syndrome.
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 |