Page last updated: 2024-08-23

phytanic acid and Amaurosis

phytanic acid has been researched along with Amaurosis in 2 studies

Research

Studies (2)

Timeframe	Studies, this research(%)	All Research%
pre-1990	1 (50.00)	18.7374
1990's	0 (0.00)	18.2507
2000's	1 (50.00)	29.6817
2010's	0 (0.00)	24.3611
2020's	0 (0.00)	2.80

Authors

Authors	Studies
Finsterer, J; Regelsberger, G; Voigtländer, T	1
Björkhem, I; Ek, J; Kase, BF; Pedersen, JI; Reith, A	1

Other Studies

2 other study(ies) available for phytanic acid and Amaurosis

Article	Year
Non-manifesting Refsum heterozygotes carrying the c.135-2A>G PAHX gene transition. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2008, Volume: 29, Issue:3 Topics: Adult; Amino Acid Substitution; Base Sequence; Biomarkers; Blindness; Chromosomes, Human, Pair 10; DNA Mutational Analysis; Female; Genetic Markers; Genetic Predisposition to Disease; Genotype; Heterozygote; Humans; Male; Middle Aged; Mixed Function Oxygenases; Mutation; Neural Conduction; Phytanic Acid; Refsum Disease; Restless Legs Syndrome	2008
Peroxisomal dysfunction in a boy with neurologic symptoms and amaurosis (Leber disease): clinical and biochemical findings similar to those observed in Zellweger syndrome. The Journal of pediatrics, 1986, Volume: 108, Issue:1 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

Article

Year

Non-manifesting Refsum heterozygotes carrying the c.135-2A>G PAHX gene transition.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2008, Volume: 29, Issue:3

Topics: Adult; Amino Acid Substitution; Base Sequence; Biomarkers; Blindness; Chromosomes, Human, Pair 10; DNA Mutational Analysis; Female; Genetic Markers; Genetic Predisposition to Disease; Genotype; Heterozygote; Humans; Male; Middle Aged; Mixed Function Oxygenases; Mutation; Neural Conduction; Phytanic Acid; Refsum Disease; Restless Legs Syndrome

2008

Peroxisomal dysfunction in a boy with neurologic symptoms and amaurosis (Leber disease): clinical and biochemical findings similar to those observed in Zellweger syndrome.

The Journal of pediatrics, 1986, Volume: 108, Issue:1

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