Page last updated: 2024-09-03

pristanic acid and Pigmentary Retinopathy

pristanic acid has been researched along with Pigmentary Retinopathy in 3 studies

Research

Studies (3)

Timeframe	Studies, this research(%)	All Research%
pre-1990	0 (0.00)	18.7374
1990's	0 (0.00)	18.2507
2000's	2 (66.67)	29.6817
2010's	1 (33.33)	24.3611
2020's	0 (0.00)	2.80

Authors

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
Alger, S; Burdon, MA; Chavda, S; Clarke, CE; Denis, S; Ferdinandusse, S; Preece, MA; Wanders, RJ	1
Allen, J; Ferdinandusse, S; McLean, BN; Wanders, RJ	1

Reviews

1 review(s) available for pristanic acid and Pigmentary Retinopathy

Article	Year
Tremor and deep white matter changes in alpha-methylacyl-CoA racemase deficiency. Neurology, 2004, Jul-13, Volume: 63, Issue:1 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

Article

Year

Tremor and deep white matter changes in alpha-methylacyl-CoA racemase deficiency.

Neurology, 2004, Jul-13, Volume: 63, Issue:1

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

Other Studies

2 other study(ies) available for pristanic acid and Pigmentary Retinopathy

Article	Year
Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency. Orphanet journal of rare diseases, 2012, Nov-22, Volume: 7 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
A new defect of peroxisomal function involving pristanic acid: a case report. Journal of neurology, neurosurgery, and psychiatry, 2002, Volume: 72, Issue:3 Topics: Abnormalities, Multiple; Chromosome Aberrations; Fatty Acids; Genes, Recessive; Humans; Learning Disabilities; Male; Middle Aged; Peroxisomal Disorders; Racemases and Epimerases; Retinitis Pigmentosa	2002

Article

Year

Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency.

Orphanet journal of rare diseases, 2012, Nov-22, Volume: 7

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

A new defect of peroxisomal function involving pristanic acid: a case report.

Journal of neurology, neurosurgery, and psychiatry, 2002, Volume: 72, Issue:3

Topics: Abnormalities, Multiple; Chromosome Aberrations; Fatty Acids; Genes, Recessive; Humans; Learning Disabilities; Male; Middle Aged; Peroxisomal Disorders; Racemases and Epimerases; Retinitis Pigmentosa

2002