Works matching Refsum disease

Results: 172

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.

Published in:

Journal of Bioenergetics & Biomembranes, 2013, v. 45, n. 1/2, p. 137, doi. 10.1007/s10863-012-9491-7

By:

Busanello, Estela;
Zanatta, Ângela;
Tonin, Anelise;
Viegas, Carolina;
Vargas, Carmen;
Leipnitz, Guilhian;
Ribeiro, César;
Wajner, Moacir

Publication type:

Article

Cochlear implantation in Refsum's disease.

Published in:

Cochlear Implants International: An Interdisciplinary Journal, 2008, v. 9, n. 2, p. 97, doi. 10.1179/cim.2008.9.2.97

By:

Raine, CH;
Kurukulasuriya, MF;
Bajaj, Y;
Strachan, DR

Publication type:

Article

Refsum's disease: a peroxisomal disorder affecting phytanic acid α-oxidation.

Published in:

Journal of Neurochemistry, 2002, v. 80, n. 5, p. 727, doi. 10.1046/j.0022-3042.2002.00766.x

By:

Wierzbicki, A.S.;
Lloyd, M.D.;
Schofield, C.J.;
Feher, M.D.;
Gibberd, F.B.

Publication type:

Article

Infantile Refsum disease: serial evaluation with MRI.

Published in:

2005

By:

Cakirer, Sinan;
Savas, Mahmut R.

Publication type:

journal article

Influence of plasma phytanic acid levels in Refsum's disease on the behaviour of the erythrocyte membrane sodium–lithium countertransporter.

Published in:

European Journal of Clinical Investigation, 1998, v. 28, n. 4, p. 334, doi. 10.1046/j.1365-2362.1998.00291.x

By:

Wierzbicki;
Hardman;
Lumb;
Sankaralingam;
Morrish;
Patel;
Sidey;
Gibberd;
Wierzbicki

Publication type:

Article

Mechanism of toxicity of the branched-chain fatty acid phytanic acid, a marker of Refsum disease, in astrocytes involves mitochondrial impairment

Published in:

International Journal of Developmental Neuroscience, 2006, v. 24, n. 2/3, p. 113, doi. 10.1016/j.ijdevneu.2005.11.002

By:

Reiser, Georg;
Schönfeld, Peter;
Kahlert, Stefan

Publication type:

Article

Refsum's Disease and Cochlear Implantation.

Published in:

Annals of Otology, Rhinology & Laryngology, 2014, v. 123, n. 6, p. 425, doi. 10.1177/0003489414526846

By:

Nogueira, Claudia;
Meehan, Thomasina;
O’Donoghue, Gerard

Publication type:

Article

Brain Lipotoxicity of Phytanic Acid and Very Long-chain Fatty Acids. Harmful Cellular/Mitochondrial Activities in Refsum Disease and X-Linked Adrenoleukodystrophy.

Published in:

Aging & Disease, 2016, v. 7, n. 2, p. 136, doi. 10.14336/AD.2015.0823

By:

Schönfeld, Peter;
Reiser, Georg

Publication type:

Article

Conventional and advanced MR imaging in infantile Refsum disease.

Published in:

Turkish Journal of Pediatrics, 2015, v. 57, n. 3, p. 294

By:

Kılıç, Mustafa;
Karlı-Oğuz, Kader;
Haliloğlu, Göknur;
Topçu, Meral;
Wanders, Ronald James;
Coşkun, Turgay

Publication type:

Article

Ultrastructure of skin from Refsum disease with emphasis on epidermal lamellar bodies and stratum corneum barrier lipid organization.

Published in:

Archives of Dermatological Research, 2014, v. 306, n. 8, p. 731, doi. 10.1007/s00403-014-1478-2

By:

Menon, G.;
Orsó, E.;
Aslanidis, Charalampos;
Crumrine, D.;
Schmitz, G.;
Elias, Peter

Publication type:

Article

Identification of genetic heterogeneity in Refsum's disease.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 8, p. 649, doi. 10.1038/sj.ejhg.5200511

By:

Wierzbicki, Anthony S;
Mitchell, John;
Lambert-Hammill, Michelle;
Hancock, Margaret;
Greenwood, Juliet;
Sidey, Margaret C;
de Belleroche, Jacqueline;
Gibberd, F Brian

Publication type:

Article

Phytyl fatty acid esters in vegetables pose a risk for patients suffering from Refsum’s disease.

Published in:

PLoS ONE, 2017, v. 12, n. 11, p. 1, doi. 10.1371/journal.pone.0188035

By:

Krauß, Stephanie;
Michaelis, Lea;
Vetter, Walter

Publication type:

Article

Refsum's Disease--Use of the Intestinal Lipase Inhibitor, Orlistat, as a Novel Therapeutic Approach to a Complex Disorder.

Published in:

Journal of Obesity, 2011, v. 2011, p. 1, doi. 10.1155/2011/482021

By:

Perera, Nimalie J.;
Lewis, Barry;
Tran, Huy;
Fietz, Michael;
Sullivan, David R.

Publication type:

Article

A Child With Night Blindness: Preventing Serious Symptoms of Refsum Disease.

Published in:

2012

By:

Kohlschütter, Alfried;
Santer, René;
Lukacs, Zoltan;
Altenburg, Christiane;
Kemper, Markus J.;
Rüther, Klaus

Publication type:

Case Study

Histologic and ultrastructural features in early and advanced phases of Zellweger spectrum disorder (infantile Refsum disease).

Published in:

Ultrastructural Pathology, 2018, v. 42, n. 3, p. 220, doi. 10.1080/01913123.2018.1440272

By:

Warren, Mikako;
Mierau, Gary;
Wartchow, Eric P.;
Shimada, Hiroyuki;
Yano, Shoji

Publication type:

Article

Brain pyruvate and 2-oxoglutarate dehydrogenase complexes are mitochondrial targets of the CoA ester of the Refsum disease marker phytanic acid

Published in:

FEBS Letters, 2006, v. 580, n. 14, p. 3551, doi. 10.1016/j.febslet.2006.05.040

By:

Bunik, Victoria I.;
Raddatz, Günter;
Wanders, Ronald J.A.;
Reiser, Georg

Publication type:

Article

Infantile Refsum Disease With Enamel Defects: A Case Report.

Published in:

2011

By:

Tran, Dorothy;
Greenhill, William;
Wilson, Stephen

Publication type:

Case Study

Refsum's Disease--A Recently Characterized Lipidosis Involving the Nervous System.

Published in:: Annals of Internal Medicine, 1967, v. 66, n. 2, p. 365, doi. 10.7326/0003-4819-66-2-365
Publication type:: Article

Phytanic acid disturbs mitochondrial homeostasis in heart of young rats: a possible pathomechanism of cardiomyopathy in Refsum disease.

Published in:

Molecular & Cellular Biochemistry, 2012, v. 366, n. 1/2, p. 335, doi. 10.1007/s11010-012-1311-1

By:

Grings, Mateus;
Tonin, Anelise;
Knebel, Lisiane;
Zanatta, Ângela;
Moura, Alana;
Filho, Carlos;
Wajner, Moacir;
Leipnitz, Guilhian

Publication type:

Article

Dilated cardiomyopathy revealing Refsum disease: a case report.

Published in:

2024

By:

Arous, Salim;
Atlas, Ilyas;
Arous, Amina;
Zahidi, Hatim;
Benouna, El Ghali Mohamed;
Habbal, Rachida

Publication type:

Case Study

A Case of Refsum's Disease without Peripheral Nerve Involvement: Clinical, Biochemical, Electrophysiological and Morphological Aspects.

Published in:

Ophthalmologica, 1983, v. 186, n. 2, p. 71, doi. 10.1159/000309264

By:

Barbieri, F.;
Sammartino, A.;
Russo, E.;
De Crecchio, G.

Publication type:

Article

Long-term strategies for the treatment of Refsum's disease using therapeutic apheresis.

Published in:

Journal of Clinical Apheresis, 2012, v. 27, n. 2, p. 99, doi. 10.1002/jca.21200

By:

Zolotov, D.;
Wagner, S.;
Kalb, K.;
Bunia, J.;
Heibges, A.;
Klingel, R.

Publication type:

Article

Quantitative EMG analysis and longitudinal nerve conduction studies in a Refsum's disease patient.

Published in:

Muscle & Nerve, 1993, v. 16, n. 8, p. 857, doi. 10.1002/mus.880160809

By:

Kuntzer, Thierry;
Ochsner, François;
Schmid, Florence;
Regli, Franco

Publication type:

Article

Hypokalaemia in acute Refsum's disease.

Published in:

1993

By:

Dick, J. P. R.;
Meeran, K.;
Gibberd, F. B.;
Rose, F. Clifford

Publication type:

Case Study

Cutaneous aspects of Refsum's disease.

Published in:

1991

By:

Ramsay, B. C.;
Meeran, K.;
Woodrow, D.;
Judge, M.;
Cream, J. J.;
Clifford, F.;
Gibberd, F. B.

Publication type:

Case Study

PEX6 Mutation in a Child with Infantile Refsum Disease—A Case Report and Literature Review.

Published in:

Children, 2023, v. 10, n. 3, p. 530, doi. 10.3390/children10030530

By:

Slanina, Ana-Maria;
Coman, Adorata-Elena;
Anton-Păduraru, Dana-Teodora;
Popa, Elena;
Barbacariu, Carmen-Liliana;
Novac, Otilia;
Petroaie, Antoneta Dacia;
Bacușcă, Agnes-Iacinta;
Manole, Mihaela;
Cosmescu, Adriana

Publication type:

Article

Medical-dental findings and management of a child with infantile Refsum disease: a case report.

Published in:

Special Care in Dentistry, 2012, v. 32, n. 3, p. 112, doi. 10.1111/j.1754-4505.2012.00248.x

By:

Acharya, Bhavini S.;
Ritwik, Priyanshi;
Velasquez, Gisela M.;
Fenton, Sanford J.

Publication type:

Article

Postnatal expression and distribution of Refsum disease gene associated protein in the rat retina and visual cortex: effect of binocular visual deprivation

Published in:

International Journal of Developmental Neuroscience, 2002, v. 20, n. 2, p. 93, doi. 10.1016/S0736-5748(02)00017-5

By:

Ahn, Kyu Youn;
Nam, Kwang Il;
Kim, Baik Yoon;
Cho, Chul Woong;
Jeong, Sang Ki;
Yang, Kun Jin;
Kim, Kyung Keun

Publication type:

Article

Phytanic Acid Intake and Lifestyle Modifications on Quality of Life in Individuals with Adult Refsum Disease: A Retrospective Survey Analysis.

Published in:

Nutrients, 2023, v. 15, n. 11, p. 2551, doi. 10.3390/nu15112551

By:

Li, Jeffrey J.;
Kim, Jane J.;
Nausheen, Fauzia

Publication type:

Article

Axonal neuropathy and late detection of Refsum's disease.

Published in:

Muscle & Nerve, 1995, v. 18, n. 6, p. 667, doi. 10.1002/mus.880180617

By:

Gelot, A.;
Vallat, J. M.;
Tabaraud, F.;
Rocchiccioli, F.

Publication type:

Article

Cascade filtration in Refsum's disease.

Published in:

Nephrology Dialysis Transplantation, 1995, v. 10, n. 1, p. 117

By:

Siegmund, J. B.;
Meier, H.;
Hoppmann, I.;
Gutsche, H.-U.

Publication type:

Article

A family with heredopathia atactica polyneuritiformis (Refsum's disease).

Published in:

Journal of the Royal Society of Medicine, 1988, v. 81, n. 10, p. 602, doi. 10.1177/014107688808101017

By:

Britton, T. C.;
Gibberd, F. B.

Publication type:

Article

Ophthalmic Diagnosis and Novel Management of Infantile Refsum Disease with Combination Docosahexaenoic Acid and Cholic Acid.

Published in:

2021

By:

Elghawy, Omar;
Zhang, Alice Y.;
Duong, Ryan;
Wilson, William G.;
Shildkrot, Eugene Y.

Publication type:

Case Study

Human phytanoyl-CoA hydroxylase: resolution of the gene structure and the molecular basis of Refsum's disease.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 8, p. 1195, doi. 10.1093/hmg/9.8.1195

By:

Jansen, Gerbert A.;
Hogenhout, Eveline M.;
Ferdinandusse, Sacha;
Waterham, Hans R.;
Ofman, Rob;
Jakobs, Cornelis;
Skjeldal, Ola H.;
Wanders, Ronald J.A.

Publication type:

Article

Localization of Refsum disease with increased pipecolic acidaemia to chromosome 10p by homozygosity mapping and carrier testing in a single nuclear family.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 10, p. 1963

By:

Nadal, Nathalie;
Rolland, Marie-Odile;
Tranchant, Christine;
Reutenauer, Laurence;
Gyapay, Gabor;
Warter, Jean-Marie;
Mandel, Jean-Louis;
Kœnig, Michel

Publication type:

Article

Atypical Refsum disease with pipecolic acidemia and abnormal catalase distribution.

Published in:

Annals of Neurology, 2000, v. 47, n. 1, p. 109, doi. 10.1002/1531-8249(200001)47:1<109::AID-ANA18>3.0.CO;2-P

By:

Baumgartner, M. R.;
Jansen, G. A.;
Verhoeven, N. M.;
Mooyer, P. A. W.;
Jakobs, C.;
Roels, F.;
Espeel, M.;
Fourmaintraux, A.;
Bellet, H.;
Wanders, R. J. A.;
Saudubray, J. M.

Publication type:

Article

Structure–function analysis of phytanoyl-CoA 2-hydroxylase mutations causing Refsum’s disease.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 18, p. 1971, doi. 10.1093/hmg/10.18.1971

By:

Mukherji, Mridul;
Chien, Winnie;
Kershaw, Nadia J.;
Clifton, Ian J.;
Schofield, Christopher J.;
Wierzbicki, Anthony S.;
Lloyd, Matthew D.

Publication type:

Article

Indications of only a Partial Defect in the a-Oxidation Mechanism in Refsum's Disease.

Published in:

Scandinavian Journal of Clinical & Laboratory Investigation, 1967, v. 20, n. 3, p. 255, doi. 10.3109/00365516709076952

By:

Try, K.

Publication type:

Article

Cochlear implantation in Refsum disease with facial nerve enlargement.

Published in:

Journal of Hearing Science, 2018, v. 8, n. 2, p. 309

By:

Horoi, M.;
Kampouridis, S.;
Thill, M. -P.

Publication type:

Article

Diet and Refsum's disease. The determination of phytanic acid and phytol in certain foods and the application of this knowledge to the choice of suitable convenience foods for patients with Refsum's disease.

Published in:

Journal of Human Nutrition & Dietetics, 1993, v. 6, n. 4, p. 295, doi. 10.1111/j.1365-277X.1993.tb00375.x

By:

Brown, P. June;
Mei, Guam;
Gibberd, F. B.;
Burston, D.;
Mayne, P. D.;
McClinchy, Jane E.;
Sidey, Margaret

Publication type:

Article

Phytanic acid activates NADPH oxidase through transactivation of epidermal growth factor receptor in vascular smooth muscle cells.

Published in:

Lipids in Health & Disease, 2016, v. 15, p. 1, doi. 10.1186/s12944-016-0273-9

By:

Dhaunsi, Gursev S.;
Alsaeid, Mayra;
Akhtar, Saghir

Publication type:

Article

A Case of Refsum's Disease in an Elderly Patient Treated with Cascade-Filtration.

Published in:

Kidney & Blood Pressure Research, 2004, v. 27, n. 5/6, p. 315

By:

Kochsiek, T.;
Mollenhauer, B.;
Koziolek, M.;
Strutz, F.;
Müller, G. A.

Publication type:

Article

Cochlear Implantation in Siblings With Refsum's Disease.

Published in:

Annals of Otology, Rhinology & Laryngology, 2017, v. 126, n. 8, p. 611, doi. 10.1177/0003489417717269

By:

Stähr, Kerstin;
Kuechler, Alma;
Gencik, Martin;
Arnolds, Judith;
Dendy, Meaghan;
Lang, Stephan;
Arweiler-Harbeck, Diana

Publication type:

Article

A child with Refsum's disease: successful treatment with diet and plasma exchange.

Published in:

1989

By:

Dickson, Nigel;
Mortimer, J. G.;
Faed, J. M.;
Pollard, A. C.;
Styles, M.;
Peart, D. A.;
Dickson, N

Publication type:

journal article

Autopsy findings in two siblings with infantile Refsum disease.

Published in:

Acta Neuropathologica, 1992, v. 83, n. 2, p. 190, doi. 10.1007/BF00308478

By:

Chow, C.;
Poulos, A.;
Fellenberg, A.;
Christodoulou, J.;
Danks, D.

Publication type:

Article

Epidermal abnormalities in Refsum's disease.

Published in:

British Journal of Dermatology, 1977, v. 97, n. 4, p. 401, doi. 10.1111/j.1365-2133.1977.tb14248.x

By:

Davies, M. G.;
Marks, R.;
Dykes, P. J.;
Reynolds, D.

Publication type:

Article

Normalization of the Tricaprin Test for ω-Oxidation in Refsum's Disease upon Lowering of Serum Phytanic Acid.

Published in:

Scandinavian Journal of Clinical & Laboratory Investigation, 1967, v. 20, n. 4, p. 294, doi. 10.3109/00365516709076958

By:

Try, K.;
Eldjarn, L.

Publication type:

Article

The presence of the hydrocarbons pristane and phytane in human adipose tissue and the occurrence of normal amounts in patients with Refsum's disease.

Published in:

1967

By:

Try, K.

Publication type:

journal article

Effect of the Refsum disease diagnostic marker phytanic acid on membrane-linked mitochondrial functions.

Published in:

1999

By:

Schönfeld, P.;
Struy, H.;
Bohnensack, R.

Publication type:

Abstract

Safety of long-term restrictive diets for peroxisomal disorders: vitamin and trace element status of patients treated for Adult Refsum Disease.

Published in:

2016

By:

Baldwin, E. J.;
Harrington, D. J.;
Sampson, B.;
Feher, M. D.;
Wierzbicki, A. S.

Publication type:

journal article