Works matching DE "REFSUM disease"
Results: 28
Infantile Refsum Disease With Enamel Defects: A Case Report.
- Published in:
- 2011
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- Publication type:
- Case Study
Laser puncture of symptomatic primary iris pigment epithelial cyst causing hemeralopia: a rare case.
- Published in:
- 2019
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- 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.
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- Journal of Bioenergetics & Biomembranes, 2013, v. 45, n. 1/2, p. 137, doi. 10.1007/s10863-012-9491-7
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- Publication type:
- Article
Diagnostic accuracy of nerve ultrasound in hereditary and sporadic non-entrapment neuropathies.
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- Journal of Neurology, 2016, v. 263, n. 11, p. 2196, doi. 10.1007/s00415-016-8242-9
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- Publication type:
- Article
Hereditary Neuropathies: Clinical Presentation and Genetic Panel Diagnosis.
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- Deutsches Ärzteblatt International, 2018, v. 115, n. 6, p. 91, doi. 10.3238/arztebl.2018.0091
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- 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.
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- Aging & Disease, 2016, v. 7, n. 2, p. 136, doi. 10.14336/AD.2015.0823
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- Publication type:
- Article
Brain pyruvate and 2-oxoglutarate dehydrogenase complexes are mitochondrial targets of the CoA ester of the Refsum disease marker phytanic acid
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- FEBS Letters, 2006, v. 580, n. 14, p. 3551, doi. 10.1016/j.febslet.2006.05.040
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- Publication type:
- Article
Cochlear implantation in Refsum's disease.
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- Cochlear Implants International: An Interdisciplinary Journal, 2008, v. 9, n. 2, p. 97, doi. 10.1179/cim.2008.9.2.97
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- 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
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- Publication type:
- Article
Management of Charcot-Marie-Tooth disease: improving long-term care with a multidisciplinary approach.
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- Journal of Multidisciplinary Healthcare, 2016, v. 9, p. 7, doi. 10.2147/JMDH.S69979
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- 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
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- 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
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- 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
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- Publication type:
- Article
Refsum's Disease--A Recently Characterized Lipidosis Involving the Nervous System.
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- 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.
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- European Journal of Human Genetics, 2000, v. 8, n. 8, p. 649, doi. 10.1038/sj.ejhg.5200511
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- Publication type:
- Article
Biallelic MCM3AP mutations cause Charcot-Marie-Tooth neuropathy with variable clinical presentation.
- Published in:
- 2017
- By:
- Publication type:
- Letter
Infantile Refsum disease: serial evaluation with MRI.
- Published in:
- 2005
- By:
- 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
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- Publication type:
- Article
Phytanic acid activates NADPH oxidase through transactivation of epidermal growth factor receptor in vascular smooth muscle cells.
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- Lipids in Health & Disease, 2016, v. 15, p. 1, doi. 10.1186/s12944-016-0273-9
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- Publication type:
- Article
Analysis of PMP22 duplication and deletion using a panel of six dinucleotide tandem repeats.
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- Clinical Chemistry & Laboratory Medicine, 2016, v. 54, n. 5, p. 773, doi. 10.1515/cclm-2015-0602
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- Publication type:
- Article
A Child With Night Blindness: Preventing Serious Symptoms of Refsum Disease.
- Published in:
- 2012
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- 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
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- Publication type:
- Article
Refsum's disease: a peroxisomal disorder affecting phytanic acid α-oxidation.
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- Journal of Neurochemistry, 2002, v. 80, n. 5, p. 727, doi. 10.1046/j.0022-3042.2002.00766.x
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- Publication type:
- Article
Conventional and advanced MR imaging in infantile Refsum disease.
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- Turkish Journal of Pediatrics, 2015, v. 57, n. 3, p. 294
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- Publication type:
- Article
EPIDEMIOLOGICAL CHARACTERISTICS OF HEREDITARY MOTOR AND SENSORY NEUROPATHY IN THE SUMY REGION.
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- ScienceRise: Medical Science, 2023, v. 54, n. 3, p. 8, doi. 10.15587/2519-4798.2023.285176
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- 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
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- 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
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- 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
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- Publication type:
- Article