Refsum disease

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Prevalence (%) of clinical parameters based on data from 2 references describing 32 individuals







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 Pubmed id number as a reference Organ system affected
Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
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List of symptoms



Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Retinitis pigmentosa nervous 100 % 2433405 2011-10-22
Night blindness nervous 100 % 2433405 2011-10-22
Neuropathy nervous 100 % 2433405 2011-10-22
Neuropathy nervous 100 % 2433405 2011-10-22
Retinitis pigmentosa nervous 100 % 11948235 2011-10-22
Anosmia nervous 93 % 11948235 2011-10-22
Hearing loss nervous 88 % 2433405 2011-10-22
Anosmia nervous 75 % 2433405 2011-10-22
Neuropathy nervous 73 % 11948235 2011-10-22
Hearing loss nervous 67 % 11948235 2011-10-22
Cataract nervous 65 % 2433405 2011-10-22
Ataxia nervous 53 % 11948235 2011-10-22
Ichthyosis integumentary 41 % 2433405 2011-10-22
Ataxia nervous 29 % 2433405 2011-10-22
Ichthyosis integumentary 27 % 11948235 2011-10-22



List of references:


Clinical and biochemical heterogeneity in conditions with phytanic acid accumulation.
O H Skjeldal, O Stokke, S Refsum, J Norseth, H Petit,



Journal of the neurological sciences - Jan 1987



Refsum's disease: a peroxisomal disorder affecting phytanic acid alpha-oxidation.
Anthony S Wierzbicki, Matthew D Lloyd, Christopher J Schofield, Michael D Feher, F Brian Gibberd,



Journal of neurochemistry - Mar 2002