Page last updated: 2024-08-23

phytanic acid and Adult Refsum Disease

phytanic acid has been researched along with Adult Refsum Disease in 163 studies

Research

Studies (163)

Timeframe	Studies, this research(%)	All Research%
pre-1990	75 (46.01)	18.7374
1990's	37 (22.70)	18.2507
2000's	36 (22.09)	29.6817
2010's	12 (7.36)	24.3611
2020's	3 (1.84)	2.80

Authors

Authors	Studies
Apfel, CM; Keidel, S; Lemotte, PK	1
Amaral, AU; Bender, JG; Marschner, RA; Ribeiro, RT; Roginski, AC; Wajner, M; Wajner, SM; Zemniaçak, ÂB	1
Kim, JJ; Li, JJ; Nausheen, F	1
Abdin, AD; Fries, FN; Hartmann, M; Seitz, B; Weinstein, I	1
Ferdinandusse, S; Herzog, K; van Lenthe, H; Vaz, FM; Wanders, RJA; Waterham, HR	1
Krauß, S; Michaelis, L; Vetter, W	1
Maberley, DA; Pakzad-Vaezi, KL	1
Finsterer, J; Regelsberger, G; Voigtländer, T	2
Brites, P; Ferdinandusse, S; Hamers, FP; Komen, JC; Poll-The, BT; Thanos, M; van den Brink, CE; van der Saag, PT; Wanders, RJ; Zomer, AW	1
Kahlert, S; Kruska, N; Reiser, G; Rönicke, S	1
Baldwin, EJ; Feher, MD; Gibberd, FB; Harley, C; Sidey, MC; Wierzbicki, AS	1
Amaral, AU; Fernandes, CG; Knebel, LA; Leipnitz, G; Seminotti, B; Vargas, CR; Wajner, M; Zanatta, A	1
Busanello, EN; Grings, M; Moura, AP; Tonin, AM; Vargas, CR; Viegas, CM; Wajner, M	1
Kruska, N; Reiser, G	1
Ferdinandusse, S; Komen, J; Wanders, RJ	1
Altenburg, C; Kemper, MJ; Kohlschütter, A; Lukacs, Z; Rüther, K; Santer, R	1
Bunia, J; Heibges, A; Kalb, K; Klingel, R; Wagner, S; Zolotov, D	1
Filho, CS; Grings, M; Knebel, LA; Leipnitz, G; Moura, AP; Tonin, AM; Wajner, M; Zanatta, A	1
Busanello, EN; Leipnitz, G; Ribeiro, CA; Tonin, AM; Vargas, CR; Viegas, CM; Wajner, M; Zanatta, Â	1
Morooka, K	1
Brites, P; de Belleroche, J; Haasjes, J; Jansen, GA; Lambert-Hamill, M; Mitchell, J; van den Brink, DM; Wanders, RJ; Waterham, HR; Wierzbicki, AS	1
Jansen, GA; Lloyd, MD; Wanders, RJ	1
Burston, D; Feher, MD; Gibberd, FB; Lloyd, MD; Mayne, PD; Mei, G; Sidey, MC; Wierzbicki, AS	1
Bamiou, DE; Gibberd, FB; Luxon, LM; Sidey, MC; Spraggs, PR	1
Gäckler, D; Kingreen, H; Klingel, R; Muselmann, L; Straube, R; Thiele, A	1
Asselberghs, S; Casteels, M; Foulon, V; Geens, W; Mannaerts, GP; Van Veldhoven, PP	1
Horibe, R; Kondo, N; Shimozawa, N; Suzuki, Y; Takemoto, Y; Wanders, RJ	1
KAHIKE, W; KLENK, E	1
AVIGAN, J; BAXTER, J; MIZE, C; STEINBERG, D	1
Chien, W; Kershaw, NJ; Lloyd, MD; Mukherji, M; Schofield, CJ; Wierzbicki, AS	1
Duran, M; Komen, JC; Wanders, RJ	2
Dacremont, G; Jansen, GA; Rontani, JF; van den Brink, DM; van Miert, JN; Wanders, RJ	1
Wierzbicki, AS	2
Kahlert, S; Reiser, G; Schönfeld, P	1
André, M; Aumaître, O; Delèvaux, I; Droullé, AG; Marroun, I	1
Rüther, K	1
Butler, D; Kavanagh, KL; McDonough, MA; Oppermann, U; Schofield, CJ; Searls, T	1
de Montellano, PR; Kroetz, DL; Ng, VY; Xu, F	1
Bunik, VI; Raddatz, G; Reiser, G; Wanders, RJ	1
van den Brink, DM; Wanders, RJ	1
Bonneau, D; Dubas, F; Levade, T; Maugin, D; Nicolas, G; Pautot, V; Prundean, A; Verny, C	1
Komen, JC; Wanders, RJ	1
Kühn, HJ; Pilz, D	1
Beaune, P; Cartier, P; Laudat, MH; Pileire, B	1
Bailes, J; Billimoria, JD; Clemens, ME; Gibberd, FB; Masters-Thomas, A; Page, NG	2
Asbury, AK; Braine, H; Moser, HW; Murray, C; Pyeritz, RE; Ullman, D	1
Feldmann, H	1
Griggs, RC; Gruebel, BJ; Hollander, J; McKenna, BA; Nusbacher, J; Pabico, RC; Panner, BJ	1
Refsum, S	3
Cotticelli, L; Di Meo, A; Rinaldi, E; Romano, A	1
Billimoria, JD; Clemens, ME; Gibberd, FB; Whitelaw, MN	1
Poulos, A	1
Brenton, DP; Krywawych, S	1
Refsum, S; Stokke, O	1
Djupesland, G; Flottorp, G; Refsum, S	1
Canny, M; Dry, J; Pradalier, A	1
Bonduelle, M	1
Greter, J; Lindstedt, S; Steen, G	1
Bonavita, V; Camarda, R; Galatioto, S; Savettieri, G	1
Beaune, P; Beucler, I; Dulac, O; Hadchouel, M; Laudat, MH; Odievre, M; Saudubray, JM; Scotto, JM	1
Dulaney, JT; Evans, JE	1
Mitchell, JD; Mortimer, G; Pollard, AC; Poulos, A; Wise, G	1
Budden, SS; Buist, NR; Kennaway, NG; Tongue, AC; Weleber, RG	1
Poulos, A; Sharp, P; Whiting, M	1
Poulos, A; Sharp, P	1
Barbosa, E; Pahan, K; Singh, AK; Singh, I	1
Aubourg, P; Kremser, K; Rocchiccioli, F; Roland, MO; Singh, I	1
Applegarth, D; Vallance, H	1
Clayton, PT; Herbert, MA	1
Bömers, K; Brandt, NJ; Christensen, E; Jakobs, C; Rosenberg, T	1
Gutsche, HU; Hoppmann, I; Meier, H; Siegmund, JB	1
Conzelmann, E; Fingerhut, R; Schmitz, W	1
Dick, JP; Gibberd, FB; Meeran, K; Rose, FC	1
Molzer, B; Schmitt, K; Stöckler, S; Tulzer, G; Tulzer, W	1
Eyssen, HJ; Huang, S; Mannaerts, GP; Van Veldhoven, PP	1
Hayasaka, S; Onozu, H; Watanabe, A; Yamada, N; Yamamoto, S	1
Khan, M; Pahan, K; Singh, I	1
Blickle, JF; Brogard, JM; Hochner, I	1
Burka, LT; Deterding, LJ; Forman, BM; Heyman, RA; Kitareewan, S; Mais, DE; McMorris, T; Parker, CE; Stevens, RD; Tomer, KB; Weinberger, C	1
Gutsche, HU; Hoppmann, I; Siegmund, JB	1
Jansen, GA; Mihalik, SJ; Wanders, RJ; Watkins, PA	1
Gibberd, FB; Hardman, TC; Lumb, P; Morrish, Z; Patel, F; Sankaralingam, A; Sidey, MC; Wierzbicki, AS	1
Suzuki, Y	2
Barbosa, E; Chahal, A; Khan, M; Pai, SG; Singh, I	1
Gibberd, FB; Hardman, TC; Lumb, PJ; Sankaralingam, A; Sidey, MC; Wierzbicki, AS	1
Gibberd, FB	1
Schönfeld, P; Struy, H	1
Weinstein, R	1
Baumgartner, MR; Bellet, H; Espeel, M; Fourmaintraux, A; Jakobs, C; Jansen, GA; Mooyer, PA; Roels, F; Saudubray, JM; Verhoeven, NM; Wanders, RJ	1
Dacremont, G; Draghici, O; Jansen, GA; Ofman, R; van den Brink, DM; Wanders, RJ	1
Manning, NJ; Reilly, MM; Wills, AJ	1
Jansen, GA; Skjeldal, OH; Wanders, RJ	1
Johnson, AW; Muller, DP; Young, SP	1
Dacremont, G; Ferdinandusse, S; Rusch, H; van Lint, AE; Vreken, P; Wanders, RJ	1
Feher, MD; Gibberd, FB; Lloyd, MD; Schofield, CJ; Wierzbicki, AS	1
Defontaines, B; Degos, CF; Jung, P; Marcaud, V	1
Olsen, WO; Sahgal, V	1
Kjellin, KG; Stibler, H	1
Atzpodien, W; Haferkamp, G; Kremer, GJ; Thümler, R	1
Atzpodien, W; Kremer, GJ; Thümler, R	1
Seyama, Y	1
Costello, CE; Dulaney, JT; Evans, JE; Kolodny, EH; Williams, M	1
Barolin, GS; Bernheimer, H; Höfinger, E; Lenz, H; Molzer, B	1
Steinberg, D	1
Barolin, GS; Bernheimer, H; Hodkewitsch, E; Höfinger, E; Molzer, B; Scholz, H	1
Billimoria, JD; Gibberd, FB; Page, NG; Retsas, S	1
Bachen, NI; Flage, T; Hansen, E	1
Batshaw, ML; Braine, H; Brusilow, SW; Moser, HW; Murray, C	1
Claridge, KG; Gibberd, FB; Sidey, MC	1
Jakobs, C; Kneer, J; Kok, RM; Poll-The, BT; Saudubray, JM; Schor, DS; Stellaard, F; ten Brink, HJ	1
Bernstein, PS; Bok, D; Lloyd, MB; O'Day, WT	1
Jakobs, C; Kok, RM; Schor, DS; Stellaard, F; ten Brink, HJ; van den Heuvel, CM; Wanders, RJ	1
Chow, CW; Christodoulou, J; Danks, DM; Fellenberg, AJ; Poulos, A	1
Jakobs, C; Kok, RM; Poll-The, BT; Schor, DS; ten Brink, HJ; Wanders, RJ	1
Mihalik, SJ; Watkins, PA	1
Demaugre, F; Poll-The, BT; Saudubray, JM; Skjeldal, OH; Stokke, O	1
Aldenhövel, HB	1
Boltshauser, E; Schutgens, RB; Spycher, MA; Steinmann, B; Tager, JM; van den Bosch, H; Wanders, RJ	1
Clifford Rose, F; Cream, JJ; Gibberd, FB; Judge, M; Meeran, K; Ramsay, BC; Woodrow, D	1
Jakobs, C; Schutgens, RB; Stellaard, F; ten Brink, HJ; Wanders, RJ	1
Cervós-Navarro, J	1
Danks, DM; Fellenberg, AJ; Poulos, A; Sharp, P	1
Brenton, DP; Forte, C; Jackson, MJ; Krywawych, S; Lawson, AM; Walker, DK	1
Billimoria, JD; Clemens, ME; Evans, R; Gibberd, FB; Goldman, JM; Retsas, S; Sherratt, RM; Whitelaw, MN	1
Millar, JH	1
Budden, SS; Buist, NR; Kennaway, NG; Poulos, A; Weleber, RG	1
Jacob, K; Knedel, M; Mehlin, S; Vogt, W	1
Lie, SO; Norseth, J; Skjeldal, OH; Stokke, O	1
Moser, HW; Ogier, H; Poll-The, BT; Poulos, A; Saudubray, JM; Schrakamp, G; Schutgens, RB; Trijbels, JM; van den Bosch, H; Wanders, RJ	1
Caron, JC; Hache, JC; Lambert, P; Lehembre, P; Leys, D; Petit, H; Skjeldal, OH	1
Norseth, J; Petit, H; Refsum, S; Skjeldal, OH; Stokke, O	1
Beard, ME; Holtzman, E; Moser, AB; Sapirstein, V	1
Dyck, PJ; Yao, JK	1
Carter, RF; Manson, JI; Pollard, AC; Poulos, A	1
Høie, K; Skjeldal, OH; Stokke, O	1
Kolodny, EH	1
Barth, PG; Berger, R; Eggelte, TA; Heymans, HS; Przyrembel, H; Schierbeek, H; Schutgens, RB; Smit, GP; Smit, W; Wanders, RJ	1
Cingolani, L	1
Thomas, PK	1
Baldwin, V; Charrow, J; Chen, WW; Friedman, JM; Hoefler, G; Hoefler, S; McGillivary, B; Moser, A; Rutledge, L; Watkins, PA	1
Carter, R; Jaunzems, A; Manson, J; Poulos, A; Robertson, EF; Sharp, P; Wise, G	1
Fellenberg, AJ; Johnson, DW; Poulos, A; Sharp, P	1
Billimoria, JD; Clemens, ME; Coppack, SW; Evans, R; Gibberd, FB	1
Hall, NA; Hjelm, NM; Lynes, GW	1
Heymans, HS; Poll-Thé, BT; Saudubray, JM; Schrakamp, G; Schutgens, RB; Tager, JM; van den Bosch, H; Wanders, RJ	1
Demaugre, F; Poll-The, BT; Poulos, A; Saudubray, JM; Skjeldal, OH; Stokke, O	1
Skjeldal, OH; Stokke, O	1
Brandt, NJ; Christensen, E; Rosenberg, T	1
Bernheimer, H; Kainz-Korschinsky, M; Molzer, B; Sundt-Heller, R	1
Billimoria, JD; Britton, TC; Clemens, ME; Gibberd, FB; Sidey, MC	1
Antonelli, A; Garavaglia, B; Girotti, F; Marano, R; Soliveri, P	1
Bardelli, AM; Bardelli, N; Dotti, MT; Federico, A; Hayek, G; Rizzuto, N; Rossi, A	1
Billimoria, JD; Clemens, ME; Gibberd, FB; Goldman, JM	1
Bogousslavsky, J; Hungerbühler, JP; Meier, C; Quadri, P; Rousselle, L	1
Jonniaux, G; Malmendier, CL; Van Den Bergen, CJ; Voet, W	1

Reviews

19 review(s) available for phytanic acid and Adult Refsum Disease

Article	Year
Infantile Refsum disease in a young adult: case presentation and brief review. Retinal cases & brief reports, 2014,Winter, Volume: 8, Issue:1 Topics: Adult; Diagnosis, Differential; Eye Diseases; Female; Humans; Phytanic Acid; Refsum Disease; Refsum Disease, Infantile; Retrospective Studies; Vision Disorders	2014
Phytanic acid metabolism in health and disease. Biochimica et biophysica acta, 2011, Volume: 1811, Issue:9 Topics: Animals; Biological Transport; Diet; Humans; Molecular Structure; Oxidation-Reduction; Peroxisomes; Phytanic Acid; Phytol; Refsum Disease	2011
[Refsum disease]. Nihon rinsho. Japanese journal of clinical medicine, 2002, Volume: 60 Suppl 9 Topics: Diagnosis, Differential; Humans; Mixed Function Oxygenases; Mutation; Peroxisomes; Phytanic Acid; Refsum Disease	2002
Phytanic acid alpha-oxidation, new insights into an old problem: a review. Biochimica et biophysica acta, 2003, Mar-17, Volume: 1631, Issue:2 Topics: Amino Acid Sequence; Animals; Carbon Dioxide; Carbon-Carbon Lyases; Carrier Proteins; Cloning, Molecular; Formates; Humans; Liver; Mitochondria, Liver; Mixed Function Oxygenases; Models, Chemical; Molecular Sequence Data; Oxidation-Reduction; Peroxisomes; Phytanic Acid; Receptors, Cytoplasmic and Nuclear; Refsum Disease; Transcription Factors	2003
[Adult Refsum disease. A retinal dystrophy with therapeutic options]. Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft, 2005, Volume: 102, Issue:8 Topics: Adult; Diet Therapy; Humans; Phytanic Acid; Practice Guidelines as Topic; Practice Patterns, Physicians'; Prognosis; Refsum Disease; Retinitis Pigmentosa; Treatment Outcome	2005
Phytanic acid: production from phytol, its breakdown and role in human disease. Cellular and molecular life sciences : CMLS, 2006, Volume: 63, Issue:15 Topics: Aldehyde Oxidoreductases; Chondrodysplasia Punctata, Rhizomelic; Humans; Oxidation-Reduction; Peroxisomal Disorders; Peroxisomes; Phytanic Acid; Phytol; Protein Transport; Refsum Disease	2006
Peroxisomes, Refsum's disease and the alpha- and omega-oxidation of phytanic acid. Biochemical Society transactions, 2007, Volume: 35, Issue:Pt 5 Topics: Biological Transport; Humans; Hydrolysis; Hydroxylation; Oxidation-Reduction; Peroxisomes; Phytanic Acid; Refsum Disease	2007
Peroxisomal disorders affecting phytanic acid alpha-oxidation: a review. Biochemical Society transactions, 2007, Volume: 35, Issue:Pt 5 Topics: Humans; Oxidation-Reduction; Peroxisomal Disorders; Phytanic Acid; Refsum Disease	2007
[Refsum disease]. La Revue de medecine interne, 1996, Volume: 17, Issue:5 Topics: Humans; Phytanic Acid; Refsum Disease; Time Factors	1996
[Refsum disease]. Ryoikibetsu shokogun shirizu, 1998, Issue:19 Pt 2 Topics: Diagnosis, Differential; Humans; Mixed Function Oxygenases; Phytanic Acid; Refsum Disease	1998
Phytanic acid storage disease (Refsum's disease): clinical characteristics, pathophysiology and the role of therapeutic apheresis in its management. Journal of clinical apheresis, 1999, Volume: 14, Issue:4 Topics: Acute Disease; Adipose Tissue; Adult; Child; Combined Modality Therapy; Dietary Fats; Female; Humans; Male; Mixed Function Oxygenases; Oxidation-Reduction; Phytanic Acid; Plasma Exchange; Refsum Disease; Triglycerides; Viscera	1999
[Refsum disease]. Nihon rinsho. Japanese journal of clinical medicine, 2001, Volume: 59 Suppl 3 Topics: Contraindications; Diagnosis, Differential; Humans; Mixed Function Oxygenases; Mutation; Phytanic Acid; Prognosis; Refsum Disease	2001
Refsum's disease. QJM : monthly journal of the Association of Physicians, 2001, Volume: 94, Issue:8 Topics: Adolescent; Adult; Age of Onset; Child; Diagnosis, Differential; Diet; Electroretinography; Humans; Middle Aged; Phytanic Acid; Plasma Exchange; Refsum Disease	2001
Refsum disease, peroxisomes and phytanic acid oxidation: a review. Journal of neuropathology and experimental neurology, 2001, Volume: 60, Issue:11 Topics: Humans; Oxidation-Reduction; Peroxisomes; Phytanic Acid; Refsum Disease	2001
Refsum's disease: a peroxisomal disorder affecting phytanic acid alpha-oxidation. Journal of neurochemistry, 2002, Volume: 80, Issue:5 Topics: Animals; Carrier Proteins; Humans; Mice; Mice, Knockout; Mixed Function Oxygenases; Mutation; Oxidation-Reduction; Peroxisomes; Phenotype; Phytanic Acid; Plant Proteins; Refsum Disease	2002
[Metabolic disorders of neutral lipids and cholesterol in the nervous system (author's transl)]. Tanpakushitsu kakusan koso. Protein, nucleic acid, enzyme, 1977, Volume: 22, Issue:6 Topics: Brain Diseases; Cholestanols; Humans; Lipidoses; Mucopolysaccharidoses; Phytanic Acid; Refsum Disease; Syndrome; Xanthomatosis	1977
Elucidation of the metabolic error in Refsum's disease: strategy and tactics. Advances in neurology, 1978, Volume: 21 Topics: Acetates; Biotransformation; Cells, Cultured; Fibroblasts; Humans; Mevalonic Acid; Oxidation-Reduction; Phytanic Acid; Refsum Disease	1978
Disorders related to the metabolism of phytanic acid. Scandinavian journal of clinical and laboratory investigation. Supplementum, 1986, Volume: 184 Topics: Animals; Eicosanoic Acids; Humans; Lipid Metabolism, Inborn Errors; Liver; Microbodies; Mixed Function Oxygenases; Oxidoreductases; Phytanic Acid; Rats; Refsum Disease	1986
Inherited neuropathies related to disorders of lipid metabolism. Advances in neurology, 1988, Volume: 48 Topics: Abetalipoproteinemia; Amidohydrolases; Ceramidases; Fabry Disease; Galactosylceramidase; Gangliosidoses; Gaucher Disease; Humans; Leukodystrophy, Globoid Cell; Leukodystrophy, Metachromatic; Lipid Metabolism, Inborn Errors; Lipoproteins; Nervous System Diseases; Niemann-Pick Diseases; Phytanic Acid; Refsum Disease; Sphingomyelin Phosphodiesterase; Sulfatases; Tangier Disease; Xanthomatosis	1988

Trials

1 trial(s) available for phytanic acid and Adult Refsum Disease

Article	Year
Metabolism of phytanic acid and 3-methyl-adipic acid excretion in patients with adult Refsum disease. Journal of lipid research, 2003, Volume: 44, Issue:8 Topics: Adipates; Adult; Biomarkers; Case-Control Studies; Consanguinity; Diet; Fasting; Female; Genotype; Humans; Male; Molecular Structure; Phytanic Acid; Refsum Disease	2003

Other Studies

143 other study(ies) available for phytanic acid and Adult Refsum Disease

Article	Year
Phytanic acid is a retinoid X receptor ligand. European journal of biochemistry, 1996, Feb-15, Volume: 236, Issue:1 Topics: Base Sequence; Dose-Response Relationship, Drug; Escherichia coli; Humans; Ligands; Molecular Sequence Data; Phytanic Acid; Receptors, Retinoic Acid; Recombinant Proteins; Refsum Disease; Retinoid X Receptors; Transcription Factors; Transcriptional Activation; Tretinoin	1996
Disruption of mitochondrial bioenergetics and calcium homeostasis by phytanic acid in the heart: Potential relevance for the cardiomyopathy in Refsum disease. Biochimica et biophysica acta. Bioenergetics, 2023, 04-01, Volume: 1864, Issue:2 Topics: Animals; Calcium; Cardiomyopathies; Energy Metabolism; Fatty Acids; Homeostasis; Mitochondria, Heart; Mitochondrial Permeability Transition Pore; Phytanic Acid; Rats; Rats, Wistar; Refsum Disease	2023
Phytanic Acid Intake and Lifestyle Modifications on Quality of Life in Individuals with Adult Refsum Disease: A Retrospective Survey Analysis. Nutrients, 2023, May-30, Volume: 15, Issue:11 Topics: Adolescent; Adult; Child; Child, Preschool; Female; Humans; Life Style; Male; Middle Aged; Phytanic Acid; Quality of Life; Refsum Disease; Retinitis Pigmentosa; Retrospective Studies; Young Adult	2023
[Pronounced band keratopathy in Refsum's syndrome]. Die Ophthalmologie, 2022, Volume: 119, Issue:7 Topics: Corneal Dystrophies, Hereditary; Humans; Phytanic Acid; Refsum Disease	2022
Identification and diagnostic value of phytanoyl- and pristanoyl-carnitine in plasma from patients with peroxisomal disorders. Molecular genetics and metabolism, 2017, Volume: 121, Issue:3 Topics: Carnitine; Cells, Cultured; Diterpenes; Fatty Acids; Humans; Oxidation-Reduction; Peroxisomal Disorders; Phytanic Acid; Refsum Disease	2017
Phytyl fatty acid esters in vegetables pose a risk for patients suffering from Refsum's disease. PloS one, 2017, Volume: 12, Issue:11 Topics: Fatty Acids; Gas Chromatography-Mass Spectrometry; Humans; Phytanic Acid; Refsum Disease; Risk Factors; Vegetables	2017
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
Ataxia with loss of Purkinje cells in a mouse model for Refsum disease. Proceedings of the National Academy of Sciences of the United States of America, 2008, Nov-18, Volume: 105, Issue:46 Topics: Animals; Ataxia; Automation; Behavior, Animal; Central Nervous System; Dietary Supplements; Disease Models, Animal; Gait; Gene Targeting; Genetic Vectors; Lipidoses; Male; Mice; Mixed Function Oxygenases; Peripheral Nervous System Diseases; Phenotype; Phytanic Acid; Phytol; Purkinje Cells; Refsum Disease; Spermatogonia	2008
The influence of the branched-chain fatty acids pristanic acid and Refsum disease-associated phytanic acid on mitochondrial functions and calcium regulation of hippocampal neurons, astrocytes, and oligodendrocytes. Neurobiology of disease, 2009, Volume: 36, Issue:2 Topics: Animals; Animals, Newborn; Astrocytes; Calcium; Cells, Cultured; Fatty Acids; Hippocampus; Mitochondria; Neurons; Oligodendroglia; Phytanic Acid; Rats; Rats, Wistar; Refsum Disease	2009
The effectiveness of long-term dietary therapy in the treatment of adult Refsum disease. Journal of neurology, neurosurgery, and psychiatry, 2010, Volume: 81, Issue:9 Topics: Adolescent; Adult; Female; Humans; Male; Middle Aged; Mixed Function Oxygenases; Mutation; Phytanic Acid; Refsum Disease; Time Factors	2010
Neurochemical evidence that phytanic acid induces oxidative damage and reduces the antioxidant defenses in cerebellum and cerebral cortex of rats. Life sciences, 2010, Aug-28, Volume: 87, Issue:9-10 Topics: Animals; Antioxidants; Brain Chemistry; Cerebellum; Cerebral Cortex; Glutathione; Lipid Peroxidation; Male; Oxidative Stress; Phytanic Acid; Protein Carbonylation; Rats; Rats, Wistar; Refsum Disease; Sulfhydryl Compounds; Thiobarbituric Acid Reactive Substances	2010
In vitro evidence that phytanic acid compromises Na(+),K(+)-ATPase activity and the electron flow through the respiratory chain in brain cortex from young rats. Brain research, 2010, Sep-17, Volume: 1352 Topics: Acetates; Animals; Cell Membrane; Cerebral Cortex; Citric Acid Cycle; Electron Transport; Glycolysis; Oxygen Consumption; Phytanic Acid; Rats; Refsum Disease; Sodium-Potassium-Exchanging ATPase	2010
Phytanic acid and pristanic acid, branched-chain fatty acids associated with Refsum disease and other inherited peroxisomal disorders, mediate intracellular Ca2+ signaling through activation of free fatty acid receptor GPR40. Neurobiology of disease, 2011, Volume: 43, Issue:2 Topics: Calcium Signaling; Cell Line, Tumor; Fatty Acids; Fatty Acids, Nonesterified; HEK293 Cells; Humans; Inositol 1,4,5-Trisphosphate; Intracellular Fluid; Linoleic Acid; Lipid Metabolism; Methylamines; Phytanic Acid; Propionates; Receptors, G-Protein-Coupled; Refsum Disease	2011
A child with night blindness: preventing serious symptoms of Refsum disease. Journal of child neurology, 2012, Volume: 27, Issue:5 Topics: Adolescent; Female; Humans; Lipoproteins, LDL; Longitudinal Studies; Mixed Function Oxygenases; Mutation; Night Blindness; Phytanic Acid; Refsum Disease	2012
Long-term strategies for the treatment of Refsum's disease using therapeutic apheresis. Journal of clinical apheresis, 2012, Volume: 27, Issue:2 Topics: Aged; Blood Component Removal; Female; Humans; Lipids; Lipoproteins; Male; Middle Aged; Phytanic Acid; Polyneuropathies; Refsum Disease; Retinitis Pigmentosa; Retrospective Studies	2012
Phytanic acid disturbs mitochondrial homeostasis in heart of young rats: a possible pathomechanism of cardiomyopathy in Refsum disease. Molecular and cellular biochemistry, 2012, Volume: 366, Issue:1-2 Topics: Animals; Antioxidants; Cardiomyopathies; Chromans; Electron Transport Chain Complex Proteins; Glutathione; Homeostasis; In Vitro Techniques; Male; Membrane Potential, Mitochondrial; Mitochondria, Heart; Myocardium; NADP; NG-Nitroarginine Methyl Ester; Nitric Oxide Synthase; Oxidation-Reduction; Oxidative Stress; Phytanic Acid; Protein Carbonylation; Rats; Rats, Wistar; Refsum Disease; Thiobarbituric Acid Reactive Substances	2012
Marked inhibition of Na+, K(+)- ATPase activity and the respiratory chain by phytanic acid in cerebellum from young rats: possible underlying mechanisms of cerebellar ataxia in Refsum disease. Journal of bioenergetics and biomembranes, 2013, Volume: 45, Issue:1-2 Topics: Animals; Cerebellum; Electron Transport; Electron Transport Chain Complex Proteins; Humans; Nerve Tissue Proteins; Phytanic Acid; Rats; Rats, Wistar; Refsum Disease; Sodium-Potassium-Exchanging ATPase; Synapses	2013
Identification of PEX7 as the second gene involved in Refsum disease. American journal of human genetics, 2003, Volume: 72, Issue:2 Topics: Acetyl-CoA C-Acetyltransferase; Adult; Alleles; Cells, Cultured; Chromosomes, Human, Pair 6; Female; Fibroblasts; Genetic Linkage; Humans; Male; Mixed Function Oxygenases; Mutation; Peroxisomal Targeting Signal 2 Receptor; Phytanic Acid; Plasmalogens; Receptors, Cytoplasmic and Nuclear; Refsum Disease; Siblings; Skin	2003
Hearing loss in adult Refsum's disease. Clinical otolaryngology and allied sciences, 2003, Volume: 28, Issue:3 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
Membrane differential filtration is safe and effective for the long-term treatment of Refsum syndrome--an update of treatment modalities and pathophysiological cognition. Transfusion and apheresis science : official journal of the World Apheresis Association : official journal of the European Society for Haemapheresis, 2003, Volume: 29, Issue:1 Topics: Blood Component Removal; Diseases in Twins; Fatty Acids; Female; Filtration; Humans; Lipid Metabolism; Lipoproteins, LDL; Middle Aged; Mutation; Phytanic Acid; Picolinic Acids; Refsum Disease	2003
Further studies on the substrate spectrum of phytanoyl-CoA hydroxylase: implications for Refsum disease? Journal of lipid research, 2003, Volume: 44, Issue:12 Topics: Coenzyme A; Humans; Hydroxylation; Kinetics; Mixed Function Oxygenases; Molecular Structure; Phytanic Acid; Refsum Disease; Structure-Activity Relationship; Substrate Specificity	2003
Gas chromatography/mass spectrometry analysis of very long chain fatty acids, docosahexaenoic acid, phytanic acid and plasmalogen for the screening of peroxisomal disorders. Brain & development, 2003, Volume: 25, Issue:7 Topics: Adolescent; Adrenoleukodystrophy; Case-Control Studies; Docosahexaenoic Acids; Fatty Acids; Gas Chromatography-Mass Spectrometry; Humans; Infant; Peroxisomal Disorders; Phytanic Acid; Plasmalogens; Refsum Disease; Zellweger Syndrome	2003
[ON THE PRESENCE OF 3,7,11,15-TETRAMETHYLHEXADECANOIC ACID (PHYTANIC ACID) IN THE CHOLESTEROL ESTERS AND OTHER LIPOID FRACTIONS OF THE ORGANS IN A CASE OF A DISEASE OF UNKNOWN ORIGIN (POSSIBLY HEREDOPATHIA ATACTICA POLYNEURITIFORMIS, REFSUM'S SYNDROME)]. Hoppe-Seyler's Zeitschrift fur physiologische Chemie, 1963, Volume: 333 Topics: Ataxia; Biochemical Phenomena; Biochemistry; Cholesterol; Cholesterol Esters; Fatty Acids; Humans; Lipids; Liver; Myelin Sheath; Neuritis; Phytanic Acid; Refsum Disease	1963
PHYTANIC ACID FORMATION AND ACCUMULATION IN PHYTOL-FED RATS. Biochemical and biophysical research communications, 1965, May-03, Volume: 19 Topics: Alcohols; Carbon Dioxide; Fatty Acids; Feces; Intestines; Lipid Metabolism; Lipid Metabolism, Inborn Errors; Liver; Lymph; Phytanic Acid; Phytol; Rats; Refsum Disease; Research; Urine	1965
Role of phytanoyl-CoA 2-hydroxylase in phytanic acid metabolism. Advances in experimental medicine and biology, 2003, Volume: 544 Topics: Carrier Proteins; Humans; In Vitro Techniques; Mixed Function Oxygenases; Oxidation-Reduction; Peroxisomes; Phytanic Acid; Refsum Disease	2003
Omega-hydroxylation of phytanic acid in rat liver microsomes: implications for Refsum disease. Journal of lipid research, 2004, Volume: 45, Issue:7 Topics: Animals; Catalysis; Cytochrome P-450 Enzyme System; Hydroxylation; Male; Microsomes, Liver; Mixed Function Oxygenases; NADP; Phytanic Acid; Protein Isoforms; Rats; Rats, Wistar; Refsum Disease	2004
Identification of fatty aldehyde dehydrogenase in the breakdown of phytol to phytanic acid. Molecular genetics and metabolism, 2004, Volume: 82, Issue:1 Topics: Aldehyde Oxidoreductases; Cell Culture Techniques; Fatty Acids; Fibroblasts; Gas Chromatography-Mass Spectrometry; Humans; Molecular Structure; Phytanic Acid; Phytol; Refsum Disease; Sjogren-Larsson Syndrome	2004
Clinical significance of oxidation from phytol to phytanic acid in man. Molecular genetics and metabolism, 2004, Volume: 83, Issue:4 Topics: Diet; Humans; Oxidation-Reduction; Phytanic Acid; Phytol; Refsum Disease	2004
The Refsum disease marker phytanic acid, a branched chain fatty acid, affects Ca2+ homeostasis and mitochondria, and reduces cell viability in rat hippocampal astrocytes. Neurobiology of disease, 2005, Volume: 18, Issue:1 Topics: Animals; Animals, Newborn; Astrocytes; Calcium; Calcium Signaling; Cell Survival; Cells, Cultured; Cytosol; Hippocampus; Homeostasis; Intracellular Membranes; Membrane Potentials; Mitochondria; Phytanic Acid; Rats; Rats, Wistar; Refsum Disease; Up-Regulation	2005
[Refsum's disease with severe neuropathy: efficiency of the diet and plasmapheresis]. La Revue de medecine interne, 2005, Volume: 26, Issue:6 Topics: Adult; Female; Humans; Phytanic Acid; Plasmapheresis; Refsum Disease	2005
Characterization of phytanic acid omega-hydroxylation in human liver microsomes. Molecular genetics and metabolism, 2005, Volume: 85, Issue:3 Topics: Adult; Aldehyde Oxidoreductases; Animals; Catalysis; Cytochrome P-450 Enzyme System; Humans; Hydroxylation; Microsomes, Liver; NADP; Oxidation-Reduction; Phytanic Acid; Rats; Refsum Disease	2005
Structure of human phytanoyl-CoA 2-hydroxylase identifies molecular mechanisms of Refsum disease. The Journal of biological chemistry, 2005, Dec-09, Volume: 280, Issue:49 Topics: Aspartic Acid; Binding Sites; Coenzyme A; Crystallization; Crystallography, X-Ray; Cysteine; Escherichia coli; Ferrous Compounds; Histidine; Humans; Ketoglutaric Acids; Mixed Function Oxygenases; Models, Molecular; Mutation; Peroxisomes; Phytanic Acid; Protein Binding; Protein Structure, Secondary; Recombinant Proteins; Refsum Disease; Structure-Activity Relationship; Transfection	2005
CYP4 isoform specificity in the omega-hydroxylation of phytanic acid, a potential route to elimination of the causative agent of Refsum's disease. The Journal of pharmacology and experimental therapeutics, 2006, Volume: 318, Issue:2 Topics: Animals; Blotting, Western; Clofibrate; Cytochrome P-450 Enzyme System; Enzyme Induction; Gas Chromatography-Mass Spectrometry; Humans; Hydroxylation; Hypolipidemic Agents; Isoenzymes; Kinetics; Male; Microsomes, Liver; Oxidation-Reduction; Phytanic Acid; Rats; Rats, Inbred F344; Refsum Disease; Substrate Specificity	2006
Brain pyruvate and 2-oxoglutarate dehydrogenase complexes are mitochondrial targets of the CoA ester of the Refsum disease marker phytanic acid. FEBS letters, 2006, Jun-12, Volume: 580, Issue:14 Topics: Animals; Biomarkers; Brain; Coenzyme A; Female; Ketoglutarate Dehydrogenase Complex; Models, Molecular; Phytanic Acid; Pyruvic Acid; Rats; Refsum Disease	2006
Refsum's disease may mimic familial Guillain Barre syndrome. Neuromuscular disorders : NMD, 2006, Volume: 16, Issue:11 Topics: Adult; Diagnosis, Differential; Female; Guillain-Barre Syndrome; Humans; Pedigree; Phytanic Acid; Refsum Disease	2006
Refsum disease due to the splice-site mutation c.135-2A>G before exon 3 of the PHYH gene, diagnosed eight years after detection of retinitis pigmentosa. Journal of the neurological sciences, 2008, Mar-15, Volume: 266, Issue:1-2 Topics: Diet; DNA; Exons; Female; Gas Chromatography-Mass Spectrometry; Humans; Middle Aged; Mixed Function Oxygenases; Mutation; Neurologic Examination; Phytanic Acid; Refsum Disease; Retinitis Pigmentosa; RNA Splice Sites; Triglycerides	2008
[Detection of phytanic acid (3,7,11,15-tetramethylhexadecanoic acid) in serum using the gas chromatograph GCHF 18.3]. Psychiatrie, Neurologie, und medizinische Psychologie, 1984, Volume: 36, Issue:9 Topics: Chromatography, Gas; Eicosanoic Acids; Humans; Phytanic Acid; Refsum Disease	1984
The use of formic acid in carrier gas. Rapid method for identification and determination of phytanic acid by gas chromatography-mass spectrometry-chemical ionization. Journal of chromatography, 1980, Jun-13, Volume: 182, Issue:3-4 Topics: Eicosanoic Acids; Fatty Acids, Nonesterified; Formates; Gas Chromatography-Mass Spectrometry; Humans; Lipids; Phytanic Acid; Reference Values; Refsum Disease	1980
Heredopathia atactica polyneuritiformis (Refsum's disease): 1. Clinical features and dietary management. Journal of human nutrition, 1980, Volume: 34, Issue:4 Topics: Adipose Tissue; Adult; Diet; Dietary Proteins; Humans; Linoleic Acids; Male; Phytanic Acid; Refsum Disease; Retinitis Pigmentosa	1980
Heredopathia atactica polyneuritiformis (Refsum's disease): 2. Estimation of phytanic acid in foods. Journal of human nutrition, 1980, Volume: 34, Issue:4 Topics: Eicosanoic Acids; Food Analysis; Humans; Male; Phytanic Acid; Refsum Disease	1980
Therapeutic trial of plasmapheresis in Refsum disease and in Fabry disease. Birth defects original article series, 1980, Volume: 16, Issue:1 Topics: Adult; Fabry Disease; Female; Glycosphingolipids; Humans; Male; Phytanic Acid; Plasmapheresis; Refsum Disease	1980
[Refsum syndrome, heredopathia atactica polyneuritiformis in the view of the otolaryngologist (author's transl)]. Laryngologie, Rhinologie, Otologie, 1981, Volume: 60, Issue:5 Topics: Adult; Cataract; Cerebrospinal Fluid Proteins; Female; Hearing Loss, Bilateral; Humans; Olfaction Disorders; Phytanic Acid; Plasma Exchange; Refsum Disease; Tinnitus; Vertigo	1981
Renal involvement in Refsum's disease. The American journal of medicine, 1981, Volume: 70, Issue:5 Topics: Adult; Female; Hemodynamics; Humans; Kidney; Kidney Tubules; Phytanic Acid; Plasmapheresis; Refsum Disease	1981
Heredopathia atactica polyneuritiformis phytanic-acid storage disease, Refsum's disease:" a biochemically well-defined disease with a specific dietary treatment. Archives of neurology, 1981, Volume: 38, Issue:10 Topics: Humans; Myelin Sheath; Phytanic Acid; Refsum Disease	1981
Ocular findings in Refsum's disease. Metabolic and pediatric ophthalmology, 1981, Volume: 5, Issue:3-4 Topics: Adaptation, Ocular; Adult; Electroretinography; Female; Humans; Pedigree; Phytanic Acid; Refsum Disease; Retina; Retinitis Pigmentosa	1981
Metabolism of phytanic acid in Refsum's disease. Lancet (London, England), 1982, Jan-23, Volume: 1, Issue:8265 Topics: Adipates; Adult; Eicosanoic Acids; Female; Humans; Male; Middle Aged; Models, Chemical; Oxidation-Reduction; Phytanic Acid; Refsum Disease	1982
Diagnosis of Refsum's disease using [1-14C]phytanic acid as substrate. Clinical genetics, 1981, Volume: 20, Issue:4 Topics: Adult; Carbon Radioisotopes; Cells, Cultured; Eicosanoic Acids; Female; Fibroblasts; Humans; Mixed Function Oxygenases; Oxidoreductases; Phytanic Acid; Refsum Disease; Skin	1981
3-Methyladipate excretion in Refsum's disease. Lancet (London, England), 1982, Mar-13, Volume: 1, Issue:8272 Topics: Adipates; Humans; Phytanic Acid; Refsum Disease	1982
Refsum's disease and metabolism of phytanic acid. Lancet (London, England), 1982, Apr-17, Volume: 1, Issue:8277 Topics: Eicosanoic Acids; Humans; Phytanic Acid; Refsum Disease	1982
Phytanic acid storage disease: hearing maintained after 15 years of dietary treatment. Neurology, 1983, Volume: 33, Issue:2 Topics: Eicosanoic Acids; Hearing Loss; Humans; Phytanic Acid; Refsum Disease	1983
[Refsum's disease: 10 years of a diet low in phytanic acid and phytol]. Annales de medecine interne, 1982, Volume: 133, Issue:7 Topics: Adult; Diterpenes; Eicosanoic Acids; Female; Follow-Up Studies; Humans; Phytanic Acid; Phytol; Prognosis; Refsum Disease	1982
[Refsum's disease. 14 years of a diet without phytol]. Annales de medecine interne, 1982, Volume: 133, Issue:7 Topics: Adult; Diterpenes; Eicosanoic Acids; Female; Follow-Up Studies; Humans; Phytanic Acid; Phytol; Refsum Disease	1982
2,6-Dimethyloctanedioic acid--a metabolite of phytanic acid in Refsum's disease. Clinical chemistry, 1983, Volume: 29, Issue:3 Topics: Acyclic Monoterpenes; Adipates; Adult; Dicarboxylic Acids; Eicosanoic Acids; Gas Chromatography-Mass Spectrometry; Humans; Male; Phytanic Acid; Refsum Disease; Trimethylsilyl Compounds	1983
Refsum disease. Clinical and morphological report on a case. Italian journal of neurological sciences, 1982, Volume: 3, Issue:3 Topics: Adolescent; Body Fluids; Humans; Male; Phytanic Acid; Refsum Disease	1982
Infantile phytanic acid storage disease, a possible variant of Refsum's disease: three cases, including ultrastructural studies of the liver. Journal of inherited metabolic disease, 1982, Volume: 5, Issue:2 Topics: Child; Child, Preschool; Eicosanoic Acids; Humans; Lipoproteins; Liver; Male; Phytanic Acid; Refsum Disease	1982
Location of double bonds in two unsaturated forms of phytanic acid from Refsum disease as determined by mass spectrometry. Biochimica et biophysica acta, 1983, Jul-12, Volume: 752, Issue:2 Topics: Chemical Phenomena; Chemistry; Eicosanoic Acids; Gas Chromatography-Mass Spectrometry; Humans; Mass Spectrometry; Oxidation-Reduction; Phytanic Acid; Refsum Disease	1983
Patterns of Refsum's disease. Phytanic acid oxidase deficiency. Archives of disease in childhood, 1984, Volume: 59, Issue:3 Topics: Adult; Cells, Cultured; Child; Eicosanoic Acids; Erythrocytes; Fibroblasts; Humans; Liver; Male; Microscopy, Electron; Mixed Function Oxygenases; Oxidoreductases; Phytanic Acid; Refsum Disease	1984
Ophthalmic manifestations of infantile phytanic acid storage disease. Archives of ophthalmology (Chicago, Ill. : 1960), 1984, Volume: 102, Issue:9 Topics: Child, Preschool; Eicosanoic Acids; Electroretinography; Eye Diseases; Facial Expression; Female; Fluorescein Angiography; Humans; Male; Phytanic Acid; Refsum Disease	1984
Infantile Refsum's disease (phytanic acid storage disease): a variant of Zellweger's syndrome? Clinical genetics, 1984, Volume: 26, Issue:6 Topics: Abnormalities, Multiple; Cells, Cultured; Eicosanoic Acids; Fibroblasts; Genetic Variation; Humans; Infant; Phytanic Acid; Refsum Disease; Skin; Syndrome	1984
Plasma and skin fibroblast C26 fatty acids in infantile Refsum's disease. Neurology, 1984, Volume: 34, Issue:12 Topics: Adrenoleukodystrophy; Child, Preschool; Fatty Acids; Female; Fibroblasts; Humans; Infant; Male; Phytanic Acid; Refsum Disease; Skin	1984
Refsum disease: a defect in the alpha-oxidation of phytanic acid in peroxisomes. Journal of lipid research, 1993, Volume: 34, Issue:10 Topics: Cells, Cultured; Coenzyme A Ligases; Endoplasmic Reticulum; Fatty Acids; Fibroblasts; Humans; Microbodies; Mitochondria; Oxidation-Reduction; Phytanic Acid; Refsum Disease	1993
Pseudo infantile Refsum's disease: catalase-deficient peroxisomal particles with partial deficiency of plasmalogen synthesis and oxidation of fatty acids. Pediatric research, 1993, Volume: 34, Issue:3 Topics: Acatalasia; Amino Acid Sequence; Cells, Cultured; Diagnosis, Differential; Fatty Acids; Female; Fibroblasts; Hereditary Sensory and Motor Neuropathy; Humans; Infant, Newborn; Intracellular Membranes; Liver; Microbodies; Molecular Sequence Data; Oxidation-Reduction; Phytanic Acid; Plasmalogens; Refsum Disease; Zellweger Syndrome	1993
An improved method for quantification of very long chain fatty acids in plasma. Clinical biochemistry, 1994, Volume: 27, Issue:3 Topics: Adrenoleukodystrophy; Adult; Chondrodysplasia Punctata; Fatty Acids; Female; Gas Chromatography-Mass Spectrometry; Humans; Male; Microbodies; Molecular Weight; Phytanic Acid; Reference Standards; Reference Values; Refsum Disease; Reproducibility of Results; Zellweger Syndrome	1994
Phytanic acid alpha-oxidase deficiency (Refsum disease) presenting in infancy. Journal of inherited metabolic disease, 1994, Volume: 17, Issue:2 Topics: Gas Chromatography-Mass Spectrometry; Humans; Infant; Magnetic Resonance Imaging; Male; Mixed Function Oxygenases; Muscular Diseases; Phytanic Acid; Refsum Disease; Tomography, X-Ray Computed	1994
The segregation of glutaryl-CoA dehydrogenase deficiency and Refsum syndrome in a family. Journal of inherited metabolic disease, 1994, Volume: 17, Issue:3 Topics: Adult; Bile Acids and Salts; Fatty Acids; Fibroblasts; Gas Chromatography-Mass Spectrometry; Glutarates; Glutaryl-CoA Dehydrogenase; Humans; Male; Mixed Function Oxygenases; Oxidoreductases; Oxidoreductases Acting on CH-CH Group Donors; Phytanic Acid; Refsum Disease	1994
Cascade filtration in Refsum's disease. Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association, 1995, Volume: 10, Issue:1 Topics: Adult; Hemodiafiltration; Humans; Male; Phytanic Acid; Plasmapheresis; Refsum Disease	1995
Accumulation of phytanic acid alpha-oxidation intermediates in Zellweger fibroblasts. Journal of inherited metabolic disease, 1993, Volume: 16, Issue:3 Topics: Cells, Cultured; Chromatography, Gas; Fibroblasts; Humans; Oxidation-Reduction; Phytanic Acid; Refsum Disease; Zellweger Syndrome	1993
Hypokalaemia in acute Refsum's disease. Journal of the Royal Society of Medicine, 1993, Volume: 86, Issue:3 Topics: Acute Disease; Adult; Female; Humans; Hypokalemia; Phytanic Acid; Plasma Exchange; Refsum Disease	1993
[Zellweger syndrome, neonatal adrenoleukodystrophy or infantile Refsum's disease in a case with generalized peroxisome defect?]. Wiener klinische Wochenschrift, 1993, Volume: 105, Issue:11 Topics: Adrenoleukodystrophy; Catalase; Fatty Acids; Humans; Infant; Male; Microbodies; Phytanic Acid; Plasmalogens; Refsum Disease; Zellweger Syndrome	1993
The deficient degradation of synthetic 2- and 3-methyl-branched fatty acids in fibroblasts from patients with peroxisomal disorders. Journal of inherited metabolic disease, 1993, Volume: 16, Issue:2 Topics: Adrenoleukodystrophy; Cell Line; Fatty Acids; Fibroblasts; Humans; Kinetics; Microbodies; Oxidation-Reduction; Palmitates; Phytanic Acid; Refsum Disease; X Chromosome; Zellweger Syndrome	1993
Mild retinal changes in a 47-year-old patient with phytanic acid storage disease. Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift fur Augenheilkunde, 1995, Volume: 209, Issue:5 Topics: Atrophy; Electroretinography; Fluorescein Angiography; Fundus Oculi; Humans; Male; Middle Aged; Phytanic Acid; Pigment Epithelium of Eye; Refsum Disease; Retinal Cone Photoreceptor Cells; Retinal Diseases; Retinal Rod Photoreceptor Cells	1995
Phytanic acid oxidation: normal activation and transport yet defective alpha-hydroxylation of phytanic acid in peroxisomes from Refsum disease and rhizomelic chondrodysplasia punctata. Journal of lipid research, 1996, Volume: 37, Issue:5 Topics: Biological Transport; Cells, Cultured; Chondrodysplasia Punctata, Rhizomelic; Coenzyme A; Fibroblasts; Humans; Hydroxylation; Microbodies; Oxidation-Reduction; Phytanic Acid; Reference Values; Refsum Disease	1996
Phytol metabolites are circulating dietary factors that activate the nuclear receptor RXR. Molecular biology of the cell, 1996, Volume: 7, Issue:8 Topics: Animals; Cattle; CHO Cells; Cricetinae; Dietary Fats; Fatty Acids, Essential; In Vitro Techniques; Ligands; Phytanic Acid; Phytol; Receptors, Retinoic Acid; Refsum Disease; Retinoid X Receptors; Signal Transduction; Transcription Factors; Tretinoin	1996
Lipapheresis: an immunoglobulin-sparing treatment for Refsum's disease. Acta neurologica Scandinavica, 1996, Volume: 94, Issue:3 Topics: Equipment Design; Filtration; Humans; Immunoglobulins; Phytanic Acid; Plasmapheresis; Refsum Disease; Treatment Outcome	1996
Phytanoyl-coenzyme A hydroxylase deficiency -- the enzyme defect in Refsum's disease. The New England journal of medicine, 1997, Jul-10, Volume: 337, Issue:2 Topics: Humans; Mixed Function Oxygenases; Peroxisomal Disorders; Phytanic Acid; Refsum Disease	1997
Influence of plasma phytanic acid levels in Refsum's disease on the behaviour of the erythrocyte membrane sodium-lithium countertransporter. European journal of clinical investigation, 1998, Volume: 28, Issue:4 Topics: Antiporters; Apolipoprotein A-I; Apolipoprotein A-II; Apolipoproteins B; Cholesterol, HDL; Cholesterol, LDL; Erythrocyte Membrane; Fatty Acids, Nonesterified; Female; Humans; Kinetics; Lipoproteins; Lithium; Male; Phytanic Acid; Reference Values; Refsum Disease; Regression Analysis; Sodium; Triglycerides	1998
Restoration of phytanic acid oxidation in Refsum disease fibroblasts from patients with mutations in the phytanoyl-CoA hydroxylase gene. FEBS letters, 1998, Jun-05, Volume: 429, Issue:1 Topics: Chromosome Mapping; Chromosomes, Human, Pair 10; Fibroblasts; Humans; Mixed Function Oxygenases; Mutation; Oxidation-Reduction; Phytanic Acid; Refsum Disease; Transfection	1998
Transport of phytanic acid on lipoproteins in Refsum disease. Journal of inherited metabolic disease, 1999, Volume: 22, Issue:1 Topics: Biological Transport; Humans; Lipoproteins; Phytanic Acid; Refsum Disease	1999
Plasma exchange for Refsum's disease. Transfusion science, 1993, Volume: 14, Issue:1 Topics: Humans; Phytanic Acid; Plasma Exchange; Refsum Disease	1993
Refsum disease diagnostic marker phytanic acid alters the physical state of membrane proteins of liver mitochondria. FEBS letters, 1999, Aug-27, Volume: 457, Issue:2 Topics: Biological Transport; Biomarkers; Electron Spin Resonance Spectroscopy; Humans; Intracellular Membranes; Membrane Proteins; Mitochondria, Liver; Phospholipids; Phytanic Acid; Protein Conformation; Refsum Disease	1999
Atypical refsum disease with pipecolic acidemia and abnormal catalase distribution. Annals of neurology, 2000, Volume: 47, Issue:1 Topics: Child; Female; Humans; Metabolism, Inborn Errors; Mixed Function Oxygenases; Phytanic Acid; Pipecolic Acids; Refsum Disease	2000
Identification of pristanal dehydrogenase activity in peroxisomes: conclusive evidence that the complete phytanic acid alpha-oxidation pathway is localized in peroxisomes. Biochemical and biophysical research communications, 2001, May-11, Volume: 283, Issue:3 Topics: Aldehyde Oxidoreductases; Aldehydes; Animals; Fatty Acids; Fibroblasts; Humans; In Vitro Techniques; Liver; Male; Oxidation-Reduction; Peroxisomes; Phytanic Acid; Rats; Rats, Wistar; Refsum Disease; Sjogren-Larsson Syndrome	2001
Effects of phytanic acid on the vitamin E status, lipid composition and physical properties of retinal cell membranes: implications for adult Refsum disease. Clinical science (London, England : 1979), 2001, Volume: 101, Issue:6 Topics: Adult; alpha-Tocopherol; Animals; Cell Line; Cell Membrane; Culture Techniques; Dose-Response Relationship, Drug; Humans; Lipid Peroxidation; Membrane Fluidity; Membrane Lipids; Models, Biological; Phospholipids; Phytanic Acid; Rats; Refsum Disease; Retina; Retinal Neoplasms; Retinoblastoma; Tumor Cells, Cultured	2001
Stereochemistry of the peroxisomal branched-chain fatty acid alpha- and beta-oxidation systems in patients suffering from different peroxisomal disorders. Journal of lipid research, 2002, Volume: 43, Issue:3 Topics: Fatty Acids; Humans; Mixed Function Oxygenases; Oxidation-Reduction; Oxidoreductases; Peroxisomal Disorders; Phytanic Acid; Racemases and Epimerases; Refsum Disease; Stereoisomerism	2002
[Refsum's disease: evolution 35 years after diagnosis]. Revue neurologique, 2002, Volume: 158, Issue:2 Topics: Adult; Ataxia; Cataract; Diet; Disease Progression; Electromyography; Facial Paralysis; Female; Follow-Up Studies; Humans; Mixed Function Oxygenases; Paresthesia; Peroxisomes; Phytanic Acid; Refsum Disease; Retinitis Pigmentosa	2002
Heredopathia atactica polyneuritiformis (phytanic acid storage disease). A new case with special reference to dietary treatment. Archives of internal medicine, 1975, Volume: 135, Issue:4 Topics: Adult; Blood Proteins; Chromosome Aberrations; Chromosome Disorders; Humans; Male; Neural Conduction; Phytanic Acid; Refsum Disease	1975
Protein patterns of cerebrospinal fluid in hereditary ataxias and hereditary spastic paraplegia. Journal of the neurological sciences, 1975, Volume: 25, Issue:1 Topics: Abetalipoproteinemia; Adolescent; Adult; Ataxia; Ataxia Telangiectasia; Cerebrospinal Fluid Proteins; Child; Child, Preschool; Electrophoresis, Paper; Female; Friedreich Ataxia; Humans; Hydrogen-Ion Concentration; Isoelectric Focusing; Lipid Metabolism; Male; Middle Aged; Paraplegia; Phytanic Acid; Refsum Disease	1975
[Refsum's syndrome (author's transl)]. Deutsche medizinische Wochenschrift (1946), 1977, Oct-14, Volume: 102, Issue:41 Topics: Eye Manifestations; Humans; Male; Middle Aged; Neurologic Manifestations; Night Blindness; Phytanic Acid; Refsum Disease; Skin Manifestations	1977
[Phytanic-acid storage disease: Refsum's syndrome. Heredopathia atactica polyneuritiformis]. Deutsche medizinische Wochenschrift (1946), 1977, Oct-14, Volume: 102, Issue:41 Topics: Humans; Phytanic Acid; Refsum Disease; Time Factors	1977
Heredopathia atactica polyneurotiformis: therapeutic and pathogenetic aspects. Rivista di patologia nervosa e mentale, 1976, Volume: 97, Issue:3 Topics: Animals; Eicosanoic Acids; Humans; Phytanic Acid; Refsum Disease	1976
Occurrence of novel branched-chain fatty acids in Refsum's disease. Biochimica et biophysica acta, 1978, Apr-28, Volume: 529, Issue:1 Topics: Eicosanoic Acids; Fatty Acids, Unsaturated; Humans; Lipids; Phosphatidylcholines; Phospholipids; Phytanic Acid; Refsum Disease; Triglycerides	1978
Di-, mono- and nonphytanyl triglycerides in the serum: a sensitive parameter of the phytanic acid accumulation in Refsum's disease. Clinica chimica acta; international journal of clinical chemistry, 1979, Jan-15, Volume: 91, Issue:2 Topics: Eicosanoic Acids; Humans; Phytanic Acid; Refsum Disease; Triglycerides	1979
Discussion: lipid disorders. Advances in neurology, 1978, Volume: 21 Topics: Abetalipoproteinemia; Ataxia; Humans; Hypobetalipoproteinemias; Lipid Metabolism, Inborn Errors; Phytanic Acid; Refsum Disease	1978
[Clinical and biochemical follow up of Refsum's disease (author's transl)]. Fortschritte der Neurologie, Psychiatrie, und ihrer Grenzgebiete, 1979, Volume: 47, Issue:2 Topics: Adult; Cerebrospinal Fluid Proteins; Electromyography; Female; Heterozygote; Humans; Pedigree; Phytanic Acid; Phytol; Refsum Disease; Triglycerides	1979
Heredopathia atactica polyneuritiformis (refsum's disease) treated by diet and plasma-exchange. Lancet (London, England), 1979, Mar-17, Volume: 1, Issue:8116 Topics: Adult; Diet; Eicosanoic Acids; Energy Intake; Humans; Male; Phytanic Acid; Plasmapheresis; Refsum Disease	1979
Refsum's disease. Eye manifestations in a patient treated with low phytol low phytanic acid diet. Acta ophthalmologica, 1979, Volume: 57, Issue:5 Topics: Adult; Color Perception; Dark Adaptation; Diet; Electromyography; Electroretinography; Evoked Potentials; Fluorescein Angiography; Follow-Up Studies; Humans; Male; Phytanic Acid; Phytol; Refsum Disease; Tonometry, Ocular; Vision Tests; Visual Field Tests; Visual Fields	1979
Management of heritable disorders of the urea cycle and of Refsum's and Fabry's diseases. Progress in clinical and biological research, 1979, Volume: 34 Topics: Adult; Amino Acid Metabolism, Inborn Errors; Arginine; Benzoates; Carbamoyl-Phosphate Synthase (Ammonia); Dietary Proteins; Fabry Disease; Hippurates; Humans; Male; Nitrogen; Ornithine Carbamoyltransferase Deficiency Disease; Phytanic Acid; Plasmapheresis; Refsum Disease; Trihexosylceramides; Urea	1979
[Heredopathia atactica polyneuritiformis. Hexadecanoic acid storage disease (Refsum's disease). Definition, treatment and pathogenesis. A short review]. Psychiatrie, Neurologie und medizinische Psychologie. Beihefte, 1977, Volume: 22-23 Topics: Blood-Brain Barrier; Dietary Fats; Humans; Myelin Sheath; Phytanic Acid; Refsum Disease	1977
Refsum disease: the presentation and ophthalmic aspects of Refsum disease in a series of 23 patients. Eye (London, England), 1992, Volume: 6 ( Pt 4) Topics: Adult; Aged; Cataract; Female; Humans; Male; Middle Aged; Phytanic Acid; Refsum Disease; Retinitis Pigmentosa; Retrospective Studies; Visual Acuity; Visual Fields	1992
In vivo study of phytanic acid alpha-oxidation in classic Refsum's disease and chondrodysplasia punctata. Pediatric research, 1992, Volume: 32, Issue:5 Topics: Administration, Oral; Adult; Carbon Dioxide; Chondrodysplasia Punctata; Fatty Acids; Humans; Infant; Male; Oxidation-Reduction; Phytanic Acid; Refsum Disease	1992
Effect of phytanic acid on cultured retinal pigment epithelium: an in vitro model for Refsum's disease. Experimental eye research, 1992, Volume: 55, Issue:6 Topics: Animals; Cattle; Cells, Cultured; Humans; Microscopy, Electron; Models, Biological; Phytanic Acid; Pigment Epithelium of Eye; Refsum Disease; Retinoids	1992
Pristanic acid and phytanic acid in plasma from patients with peroxisomal disorders: stable isotope dilution analysis with electron capture negative ion mass fragmentography. Journal of lipid research, 1992, Volume: 33, Issue:1 Topics: Aging; Child, Preschool; Fatty Acids; Gas Chromatography-Mass Spectrometry; Humans; Indicator Dilution Techniques; Infant; Infant, Newborn; Metabolism, Inborn Errors; Microbodies; Phytanic Acid; Refsum Disease	1992
Autopsy findings in two siblings with infantile Refsum disease. Acta neuropathologica, 1992, Volume: 83, Issue:2 Topics: Adrenal Glands; Fatty Acids; Female; Humans; Infant; Liver; Microbodies; Phytanic Acid; Refsum Disease	1992
Phytanic acid alpha-oxidation: accumulation of 2-hydroxyphytanic acid and absence of 2-oxophytanic acid in plasma from patients with peroxisomal disorders. Journal of lipid research, 1992, Volume: 33, Issue:10 Topics: Adolescent; Adult; Carbon Radioisotopes; Child; Child, Preschool; Fatty Acids; Gas Chromatography-Mass Spectrometry; Humans; Infant; Infant, Newborn; Middle Aged; Phytanic Acid; Refsum Disease	1992
Mitochondrial oxidation of phytanic acid in human and monkey liver: implication that Refsum's disease is not a peroxisomal disorder. Biochemical and biophysical research communications, 1990, Mar-16, Volume: 167, Issue:2 Topics: Animals; Antimycin A; Cell Fractionation; Centrifugation, Density Gradient; Cytosol; Eicosanoic Acids; Fibroblasts; Humans; Liver; Macaca mulatta; Microbodies; Mitochondria, Liver; Oxidation-Reduction; Phytanic Acid; Refsum Disease; Rotenone; Skin; Species Specificity; Subcellular Fractions	1990
Complementation analysis of peroxisomal disorders and classical Refsum. Progress in clinical and biological research, 1990, Volume: 321 Topics: Adrenoleukodystrophy; Cells, Cultured; Diffuse Cerebral Sclerosis of Schilder; Fibroblasts; Genetic Complementation Test; Humans; Infant; Microbodies; Phytanic Acid; Refsum Disease; Zellweger Syndrome	1990
Is phytanate accumulation pathognomonic for heredopathia atactica polyneuritiformis? Archives of neurology, 1990, Volume: 47, Issue:9 Topics: Adult; Eicosanoic Acids; Humans; Male; Phytanic Acid; Refsum Disease	1990
Infantile phytanic acid storage disease, a disorder of peroxisome biogenesis: a case report. Journal of the neurological sciences, 1990, Volume: 98, Issue:1 Topics: Acyl Coenzyme A; Acyltransferases; Bile Acids and Salts; Fatty Acids; Fibroblasts; Humans; Infant; Male; Microbodies; Oxidation-Reduction; Phytanic Acid; Refsum Disease	1990
Cutaneous aspects of Refsum's disease. Journal of the Royal Society of Medicine, 1991, Volume: 84, Issue:9 Topics: Adult; Female; Humans; Phytanic Acid; Refsum Disease; Skin	1991
Pristanic acid and phytanic acid in plasma from patients with a single peroxisomal enzyme deficiency. Journal of inherited metabolic disease, 1991, Volume: 14, Issue:3 Topics: Fatty Acids; Humans; Microbodies; Mixed Function Oxygenases; Oxidation-Reduction; Oxidoreductases; Phytanic Acid; Proteins; Refsum Disease	1991
Heredopathia atactica polyneuritiformis (Refsum's disease). Histology and histopathology, 1990, Volume: 5, Issue:4 Topics: Central Nervous System; Female; Humans; Inclusion Bodies; Microscopy, Electron; Middle Aged; Peripheral Nerves; Phytanic Acid; Refsum Disease	1990
Cerebro-hepato-renal (Zellweger) syndrome, adrenoleukodystrophy, and Refsum's disease: plasma changes and skin fibroblast phytanic acid oxidase. Human genetics, 1985, Volume: 70, Issue:2 Topics: Adrenoleukodystrophy; Brain Diseases; Cells, Cultured; Child, Preschool; Chromatography, Gas; Diffuse Cerebral Sclerosis of Schilder; Eicosanoic Acids; Fatty Acids; Female; Fibroblasts; Genetic Linkage; Humans; Infant; Infant, Newborn; Kidney Diseases; Liver Diseases; Male; Mixed Function Oxygenases; Oxidoreductases; Phytanic Acid; Pipecolic Acids; Refsum Disease; Skin; Syndrome; X Chromosome	1985
3-Methyladipate excretion in animals fed a phytol supplement with reference to Refsum's disease. Journal of inherited metabolic disease, 1985, Volume: 8 Suppl 2 Topics: Adipates; Animals; Diterpenes; Female; Phytanic Acid; Phytol; Rats; Rats, Inbred Strains; Refsum Disease	1985
Heredopathia atactica polyneuritiformis: Refsum's disease. Acta neurologica Scandinavica, 1985, Volume: 72, Issue:1 Topics: Adipose Tissue; Adult; Body Weight; Combined Modality Therapy; Energy Intake; Humans; Male; Neural Conduction; Phytanic Acid; Plasma Exchange; Refsum Disease; Zinc	1985
Refsum disease--the effect of diet. The Ulster medical journal, 1985, Volume: 54, Issue:1 Topics: Adult; Cranial Nerves; Female; Humans; Kidney; Male; Phytanic Acid; Refsum Disease	1985
Dysmorphic syndrome with phytanic acid oxidase deficiency, abnormal very long chain fatty acids, and pipecolic acidemia: studies in four children. The Journal of pediatrics, 1986, Volume: 108, Issue:1 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
Simple capillary gas chromatographic method for the quantitation of phytanic acid in serum. Journal of chromatography, 1986, Jan-24, Volume: 374, Issue:2 Topics: Chromatography, Gas; Eicosanoic Acids; Fatty Acids; Humans; Indicators and Reagents; Methylation; Phytanic Acid; Refsum Disease	1986
Phytanic acid oxidase activity in cultured skin fibroblasts. Diagnostic usefulness and limitations. Scandinavian journal of clinical and laboratory investigation, 1986, Volume: 46, Issue:3 Topics: Carbon Dioxide; Clinical Enzyme Tests; Culture Techniques; Eicosanoic Acids; Fibrin Fibrinogen Degradation Products; Fibroblasts; Humans; Mixed Function Oxygenases; Oxidoreductases; Phytanic Acid; Refsum Disease; Skin	1986
Infantile Refsum's disease: biochemical findings suggesting multiple peroxisomal dysfunction. Journal of inherited metabolic disease, 1986, Volume: 9, Issue:2 Topics: Acyltransferases; Bile Acids and Salts; Blood Platelets; Child; Fatty Acids; Fibroblasts; Humans; Male; Microbodies; Mixed Function Oxygenases; Oxidoreductases; Phytanic Acid; Pipecolic Acids; Plasmalogens; Refsum Disease	1986
[Refsum's disease. Epidemiologic, clinical and biological correlation. 6 cases]. Revue neurologique, 1986, Volume: 142, Issue:5 Topics: Adolescent; Adult; Aged; Child; Dietary Fats; Female; France; Humans; Male; Middle Aged; Phytanic Acid; Refsum Disease	1986
Clinical and biochemical heterogeneity in conditions with phytanic acid accumulation. Journal of the neurological sciences, 1987, Volume: 77, Issue:1 Topics: Adrenoleukodystrophy; Adult; Aged; Eicosanoic Acids; Female; Fibroblasts; Humans; Male; Middle Aged; Mixed Function Oxygenases; Oxidoreductases; Phytanic Acid; Refsum Disease; Skin; Syndrome	1987
Peroxisomes in infantile phytanic acid storage disease: a cytochemical study of skin fibroblasts. Journal of inherited metabolic disease, 1986, Volume: 9, Issue:4 Topics: Catalase; Cells, Cultured; Child, Preschool; Eicosanoic Acids; Female; Fibroblasts; Histocytochemistry; Humans; Infant; Liver; Male; Microbodies; Microscopy, Electron; Phytanic Acid; Refsum Disease; Skin	1986
Tissue distribution of phytanic acid and its analogues in a kinship with Refsum's disease. Lipids, 1987, Volume: 22, Issue:2 Topics: Aged; Eicosanoic Acids; Erythrocytes; Fatty Acids; Female; Humans; Lipids; Male; Middle Aged; Peripheral Nerves; Phytanic Acid; Refsum Disease; Sural Nerve; Triglycerides	1987
Infantile Refsum's disease: a peroxisomal storage disorder? Clinical and experimental neurology, 1985, Volume: 21 Topics: Age Factors; Humans; Infant; Liver; Male; Microbodies; Phytanic Acid; Refsum Disease	1985
The adrenoleukodystrophy-adrenomyeloneuropathy complex: is it treatable? Annals of neurology, 1987, Volume: 21, Issue:3 Topics: Adrenoleukodystrophy; Dietary Fats; Diffuse Cerebral Sclerosis of Schilder; Fatty Acids; Heterozygote; Humans; Oleic Acid; Oleic Acids; Phytanic Acid; Refsum Disease; Syndrome	1987
Age-related accumulation of phytanic acid in plasma from patients with the cerebro-hepato-renal (Zellweger) syndrome. Clinica chimica acta; international journal of clinical chemistry, 1987, Jun-30, Volume: 166, Issue:1 Topics: Age Factors; Brain; Child, Preschool; Eicosanoic Acids; Female; Humans; Infant; Infant, Newborn; Kidney; Liver; Male; Phytanic Acid; Refsum Disease; Syndrome	1987
Rapid gas chromatographic determination of phytanic acid from serum of a patient suffering from Refsum's disease. Journal of chromatography, 1987, Aug-07, Volume: 419 Topics: Chromatography, Gas; Eicosanoic Acids; Humans; Methylation; Phytanic Acid; Refsum Disease	1987
Biochemical abnormalities in rhizomelic chondrodysplasia punctata. The Journal of pediatrics, 1988, Volume: 112, Issue:5 Topics: Acetyl-CoA C-Acyltransferase; Adrenoleukodystrophy; Chondrodysplasia Punctata; Female; Fibroblasts; Humans; Infant; Infant, Newborn; Liver; Male; Microbodies; Phytanic Acid; Plasmalogens; Refsum Disease	1988
Treatment of infantile phytanic acid storage disease: clinical, biochemical and ultrastructural findings in two children treated for 2 years. European journal of pediatrics, 1988, Volume: 147, Issue:2 Topics: Eicosanoic Acids; Fatty Acids; Humans; Infant; Liver; Lysosomes; Male; Microbodies; Phytanic Acid; Pipecolic Acids; Refsum Disease; Sural Nerve	1988
Accumulation of pristanic acid (2, 6, 10, 14 tetramethylpentadecanoic acid) in the plasma of patients with generalised peroxisomal dysfunction. European journal of pediatrics, 1988, Volume: 147, Issue:2 Topics: Adrenoleukodystrophy; Chondrodysplasia Punctata; Fatty Acids; Humans; Lipidoses; Microbodies; Phytanic Acid; Refsum Disease	1988
Can patients with Refsum's disease safely eat green vegetables? British medical journal (Clinical research ed.), 1988, Mar-19, Volume: 296, Issue:6625 Topics: Adult; Humans; Male; Phytanic Acid; Refsum Disease; Vegetables	1988
Ratios for very-long-chain fatty acids in plasma of subjects with peroxisomal disorders, as determined by HPLC and validated by gas chromatography-mass spectrometry. Clinical chemistry, 1988, Volume: 34, Issue:6 Topics: Adolescent; Adrenoleukodystrophy; Adult; Aging; Child; Child, Preschool; Chromatography, High Pressure Liquid; Fatty Acids; Female; Gas Chromatography-Mass Spectrometry; Humans; Infant; Infant, Newborn; Lipid Metabolism, Inborn Errors; Male; Microbodies; Middle Aged; Phytanic Acid; Reference Values; Refsum Disease; Syndrome	1988
Peroxisomal functions in classical Refsum's disease: comparison with the infantile form of Refsum's disease. Journal of the neurological sciences, 1988, Volume: 84, Issue:2-3 Topics: Acyltransferases; Catalase; Cholic Acids; Fatty Acids; Fibroblasts; Humans; Microbodies; Phytanic Acid; Pipecolic Acids; Plasmalogens; Refsum Disease	1988
Phytanic acid alpha-oxidation and complementation analysis of classical Refsum and peroxisomal disorders. Human genetics, 1989, Volume: 81, Issue:2 Topics: Adrenoleukodystrophy; Cells, Cultured; Chondrodysplasia Punctata; Eicosanoic Acids; Fibroblasts; Genetic Complementation Test; Humans; Microbodies; Oxidation-Reduction; Phytanic Acid; Refsum Disease; Zellweger Syndrome	1989
Evidence against alpha-hydroxyphytanic acid as an intermediate in the metabolism of phytanic acid. Scandinavian journal of clinical and laboratory investigation, 1988, Volume: 48, Issue:1 Topics: Animals; Cells, Cultured; Eicosanoic Acids; Fibroblasts; Humans; Liver; Oxidation-Reduction; Phytanic Acid; Rats; Rats, Inbred Strains; Refsum Disease; Skin; Subcellular Fractions	1988
[Refsum's disease. Hereditary atactic polyneuritis]. Ugeskrift for laeger, 1989, Feb-06, Volume: 151, Issue:6 Topics: Humans; Male; Middle Aged; Phytanic Acid; Refsum Disease	1989
Phytanic acid and very long chain fatty acids in genetic peroxisomal disorders. Journal of clinical chemistry and clinical biochemistry. Zeitschrift fur klinische Chemie und klinische Biochemie, 1989, Volume: 27, Issue:5 Topics: Adrenal Glands; Adrenoleukodystrophy; Brain; Cholesterol Esters; Eicosanoic Acids; Fatty Acids; Humans; Kidney; Lipid Metabolism, Inborn Errors; Microbodies; Phytanic Acid; Refsum Disease; Zellweger Syndrome	1989
The significance of plasma phytanic acid levels in adults. Journal of neurology, neurosurgery, and psychiatry, 1989, Volume: 52, Issue:7 Topics: Adolescent; Adult; Eicosanoic Acids; Follow-Up Studies; Humans; Middle Aged; Phytanic Acid; Refsum Disease	1989
A case of Refsum disease with atypical clinical picture in family members. Italian journal of neurological sciences, 1989, Volume: 10, Issue:4 Topics: Adult; Aged; Aged, 80 and over; Eicosanoic Acids; Female; Humans; Male; Middle Aged; Phytanic Acid; Refsum Disease	1989
Atypical phenotype of Refsum's disease: clinical, biochemical, neurophysiological and pathological study. European neurology, 1985, Volume: 24, Issue:2 Topics: Adolescent; Atrophy; Cerebellum; Diagnosis, Differential; Electromyography; Female; Humans; Microscopy, Electron; Motor Neurons; Muscles; Nerve Fibers, Myelinated; Neural Conduction; Pedigree; Peroneal Nerve; Phenotype; Phytanic Acid; Refsum Disease; Tomography, X-Ray Computed	1985
Screening of patients with retinitis pigmentosa for heredopathia atactica polyneuritiformis (Refsum's disease). British medical journal (Clinical research ed.), 1985, Apr-13, Volume: 290, Issue:6475 Topics: Adolescent; Adult; Aged; Child; Deafness; Female; Humans; Male; Middle Aged; Phytanic Acid; Polyneuropathies; Refsum Disease; Retinitis Pigmentosa	1985
Refsum's disease: management by diet and plasmapheresis. European neurology, 1985, Volume: 24, Issue:3 Topics: Adult; Combined Modality Therapy; Eicosanoic Acids; Humans; Male; Phytanic Acid; Plasmapheresis; Refsum Disease	1985
Fatty acid composition of tissues in Refsum's disease (herodopathia atactica polyneuritiformis). Estimation of total phytanic acid accumulation. Biomedicine / [publiee pour l'A.A.I.C.I.G.], 1974, Volume: 20, Issue:6 Topics: Adult; Arachidonic Acids; Cholesterol; Eicosanoic Acids; Fatty Acids; Female; Humans; Kidney; Linoleic Acids; Lipid Metabolism; Liver; Myocardium; Phospholipids; Phytanic Acid; Refsum Disease; Triglycerides	1974