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Results for
""Refsum Disease""[mesh_terms]

14 Results

Searching titles within these results

Infantile Refsum disease in a young adult: case presentation and brief review.

Kaivon L Pakzad-Vaezi, David A L Maberley

Retinal cases & brief reports 2015;8(1):56-9

Diagnosis and Metabolic Management of Adult Refsum Disease: Guidance From the Medical and Scientific Committee of Global DARE (Defeat Adult Refsum Everywhere).

Radha Ramachandran, Raphael Buttigieg, Florian Eichler, Bart P Leroy, Omar Mahroo, Rachel M Huckfeldt, Sarah Firman, Eleanor Baldwin, Kristie DeMarco, Susan Kuranoff, Amena Fine, Reinhard Klingel, Sacha Ferdinandusse, Joseph G Hacia, Ronald J Wanders, Anthony S Wierzbicki

Journal of inherited metabolic disease 2026;49(3):e70201

Refsum disease, peroxisomes and phytanic acid oxidation: a review.

R J Wanders, G A Jansen, O H Skjeldal

Journal of neuropathology and experimental neurology 2001;60(11):1021-31

Peroxisomal disorders affecting phytanic acid alpha-oxidation: a review.

A S Wierzbicki

Biochemical Society transactions 2008;35(Pt 5):881-6

Treatable forms of retinitis pigmentosa associated with systemic neurological disorders.

E L Berson, C A Grant

International ophthalmology clinics 2001;41(1):103-10

Inborn Errors of Metabolism: Refsum Disease.

Stephen H Tsang, Tarun Sharma

Advances in experimental medicine and biology 2019;1085():191-192

Peroxisomes, Refsum's disease and the alpha- and omega-oxidation of phytanic acid.

R J A Wanders, J C Komen

Biochemical Society transactions 2008;35(Pt 5):865-9

Phytanic acid: production from phytol, its breakdown and role in human disease.

D M van den Brink, R J A Wanders

Cellular and molecular life sciences : CMLS 2006;63(15):1752-65

Refsum's disease.

A J Wills, N J Manning, M M Reilly

QJM : monthly journal of the Association of Physicians 2001;94(8):403-6

Metabolism of phytanic acid and 3-methyl-adipic acid excretion in patients with adult Refsum disease.

Anthony S Wierzbicki, Phillip D Mayne, Matthew D Lloyd, David Burston, Guam Mei, Margaret C Sidey, Michael D Feher, F Brian Gibberd

Journal of lipid research 2004;44(8):1481-8

Plain Language Summary

Peroxisome biogenesis disorders.

Steven J Steinberg, Gabriele Dodt, Gerald V Raymond, Nancy E Braverman, Ann B Moser, Hugo W Moser

Biochimica et biophysica acta 2007;1763(12):1733-48

Docosahexaenoic acid therapy in peroxisomal diseases: results of a double-blind, randomized trial.

L Albanna, A M Paker, J S Sunness, N H Brereton, L J Speedie, S Dharmaraj, A B Moser, R O Jones, G V Raymond

Neurology 2010;75(9):826-30

Restoring the DHA levels in the brains of Zellweger patients.

M Martinez

Journal of molecular neuroscience : MN 2002;16(2-3):309-16; discussion 317-21

Autosomal recessive cerebellar ataxias.

Francesc Palau, Carmen Espinós

Orphanet journal of rare diseases 2009;1():47

Results: 1 – 14 / 14

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