Works matching DE "REFSUM disease"

Results: 28

Infantile Refsum Disease With Enamel Defects: A Case Report.

Published in:

2011

By:

Tran, Dorothy;
Greenhill, William;
Wilson, Stephen

Publication type:

Case Study

Laser puncture of symptomatic primary iris pigment epithelial cyst causing hemeralopia: a rare case.

Published in:

2019

By:

Sharma, Ram Lal;
Pandey, Mohan Lal;
Sharma, Vinod;
Sharma, Kalpana;
Chowdhary, Neha

Publication type:

Case Study

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

Diagnostic accuracy of nerve ultrasound in hereditary and sporadic non-entrapment neuropathies.

Published in:

Journal of Neurology, 2016, v. 263, n. 11, p. 2196, doi. 10.1007/s00415-016-8242-9

By:

Loewenbrück, Kai;
Dittrich, Markus;
Böhm, Josef;
Klingelhöfer, Jürgen;
Baum, Petra;
Schäfer, Jochen;
Koch, Rainer;
Storch, Alexander

Publication type:

Article

Hereditary Neuropathies: Clinical Presentation and Genetic Panel Diagnosis.

Published in:

Deutsches Ärzteblatt International, 2018, v. 115, n. 6, p. 91, doi. 10.3238/arztebl.2018.0091

By:

Eggermann, Katja;
Gess, Burkhard;
Häusler, Martin;
Weis, Joachim;
Hahn, Andreas;
Kurth, Ingo

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

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

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

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

Management of Charcot-Marie-Tooth disease: improving long-term care with a multidisciplinary approach.

Published in:

Journal of Multidisciplinary Healthcare, 2016, v. 9, p. 7, doi. 10.2147/JMDH.S69979

By:

McCorquodale, Donald;
Pucillo, Evan M.;
Johnson, Nicholas E.

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

First reported case of Charcot Marie Tooth disease type 4C in a child from India with SH3TC2 mutation but absent spinal deformities.

Published in:

2015

By:

Dinkar Kalane, Umesh;
Datar, Chaitanya;
Mahadevan, Anita

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

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

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

Biallelic MCM3AP mutations cause Charcot-Marie-Tooth neuropathy with variable clinical presentation.

Published in:

2017

By:

Karakaya, Mert;
Mazaheri, Neda;
Polat, Ipek;
Bharucha-Goebel, Diana;
Donkervoort, Sandra;
Maroofian, Reza;
Shariati, Gholamreza;
Hoelker, Irmgard;
Monaghan, Kristin;
Winchester, Sara;
Zori, Robert;
Galehdari, Hamid;
Bönnemann, Carsten G.;
Yis, Uluc;
Wirth, Brunhilde

Publication type:

Letter

Infantile Refsum disease: serial evaluation with MRI.

Published in:

2005

By:

Cakirer, Sinan;
Savas, Mahmut R.

Publication type:

journal 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

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

Analysis of PMP22 duplication and deletion using a panel of six dinucleotide tandem repeats.

Published in:

Clinical Chemistry & Laboratory Medicine, 2016, v. 54, n. 5, p. 773, doi. 10.1515/cclm-2015-0602

By:

Gagic, Milica;
Markovic, Milica Keckarevic;
Kecmanovic, Miljana;
Keckarevic, Dusan;
Mladenovic, Jelena;
Dackovic, Jelena;
Milic-Rasic, Vedrana;
Romac, Stanka

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

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

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

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

EPIDEMIOLOGICAL CHARACTERISTICS OF HEREDITARY MOTOR AND SENSORY NEUROPATHY IN THE SUMY REGION.

Published in:

ScienceRise: Medical Science, 2023, v. 54, n. 3, p. 8, doi. 10.15587/2519-4798.2023.285176

By:

Govbakh, Iryna;
Mishchenko, Tamara

Publication type:

Article

Title of presented paper: A clinical case of a 9-year-old boy with hereditary distal motor neuropathy -- an unknown variant of the REEP1 gene.

Published in:

European Journal of Clinical & Experimental Medicine, 2023, p. 43

By:

Gunia, Katarzyna;
Nyankovska, Yana

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

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