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Year Number of Results
2016 5
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Page 1
The physiological functions of human peroxisomes.
Wanders RJA, Baes M, Ribeiro D, Ferdinandusse S, Waterham HR. Wanders RJA, et al. Physiol Rev. 2023 Jan 1;103(1):957-1024. doi: 10.1152/physrev.00051.2021. Epub 2022 Aug 11. Physiol Rev. 2023. PMID: 35951481 Free article. Review.
Among others these include the Zellweger spectrum disorders, X-linked adrenoleukodystrophy, and Refsum disease. To fulfill their role in metabolism, peroxisomes require continued interaction with other subcellular organelles including lipid droplets, lysosomes, the …
Among others these include the Zellweger spectrum disorders, X-linked adrenoleukodystrophy, and Refsum disease. To fulfill the …
Syndromic retinitis pigmentosa.
Karuntu JS, Almushattat H, Nguyen XT, Plomp AS, Wanders RJA, Hoyng CB, van Schooneveld MJ, Schalij-Delfos NE, Brands MM, Leroy BP, van Karnebeek CDM, Bergen AA, van Genderen MM, Boon CJF. Karuntu JS, et al. Prog Retin Eye Res. 2025 Jul;107:101324. doi: 10.1016/j.preteyeres.2024.101324. Epub 2024 Dec 27. Prog Retin Eye Res. 2025. PMID: 39733931 Free article. Review.
Several inherited metabolic disorders can present with RP, including Zellweger spectrum disorders, adult Refsum disease, alpha-methylacyl-CoA racemase deficiency, certain mucopolysaccharidoses, ataxia with vitamin E deficiency, abetalipoproteinemia, several neuronal …
Several inherited metabolic disorders can present with RP, including Zellweger spectrum disorders, adult Refsum disease, alpha …
Laboratory investigations.
Boltshauser E, Weber KP. Boltshauser E, et al. Handb Clin Neurol. 2018;154:287-298. doi: 10.1016/B978-0-444-63956-1.00017-5. Handb Clin Neurol. 2018. PMID: 29903445 Review.
Particular attention is paid to early diagnosis of treatable metabolic ataxias (such as abetalipoproteinemia, coenzyme Q10 deficiency, cerebrotendinous xanthomatosis, glucose transporter type 1 deficiency, Refsum disease, and vitamin E deficiency), but autoimmune at …
Particular attention is paid to early diagnosis of treatable metabolic ataxias (such as abetalipoproteinemia, coenzyme Q10 deficiency, cereb …
PHARC syndrome: an overview.
Harutyunyan L, Callaerts P, Vermeer S. Harutyunyan L, et al. Orphanet J Rare Dis. 2024 Nov 5;19(1):416. doi: 10.1186/s13023-024-03418-0. Orphanet J Rare Dis. 2024. PMID: 39501272 Free PMC article. Review.
Differential diagnoses of the disease include Refsum disease, Charcot-Marie-Tooth disease, and Usher syndrome. Many aspects of the disease, such as the biochemistry and pathophysiology, are still not fully understood. ...
Differential diagnoses of the disease include Refsum disease, Charcot-Marie-Tooth disease, and Usher syndrome. Many aspects of …
Inborn Errors of Metabolism: Refsum Disease.
Tsang SH, Sharma T. Tsang SH, et al. Adv Exp Med Biol. 2018;1085:191-192. doi: 10.1007/978-3-319-95046-4_39. Adv Exp Med Biol. 2018. PMID: 30578512 Review.
Patient with Refsum disease present with nyctalopia, and the fundus shows progressive panretinal degeneration. ...
Patient with Refsum disease present with nyctalopia, and the fundus shows progressive panretinal degeneration. ...
Lipidomic Analysis: From Archaea to Mammals.
Řezanka T, Kolouchová I, Gharwalová L, Palyzová A, Sigler K. Řezanka T, et al. Lipids. 2018 Jan;53(1):5-25. doi: 10.1002/lipd.12001. Epub 2018 Feb 15. Lipids. 2018. PMID: 29446847 Review.
Their biosynthesis and metabolism play key roles in faraway topics such as biofuel production (third-generation biofuels produced by microorganisms, e.g. algae) and human diseases such as adrenoleukodystrophy, Zellweger syndrome, or Refsum disease. Current lipidomic …
Their biosynthesis and metabolism play key roles in faraway topics such as biofuel production (third-generation biofuels produced by microor …
Inborn Errors of Metabolism: Refsum Disease.
Hirji S, Tsang S, Sharma T, Diaconita V. Hirji S, et al. Adv Exp Med Biol. 2025;1467:205-206. doi: 10.1007/978-3-031-72230-1_39. Adv Exp Med Biol. 2025. PMID: 40736841
The Role of Visual Electrophysiology in Systemic Hereditary Syndromes.
Yu M, Vieta-Ferrer ER, Bakdalieh A, Tsai T. Yu M, et al. Int J Mol Sci. 2025 Jan 23;26(3):957. doi: 10.3390/ijms26030957. Int J Mol Sci. 2025. PMID: 39940729 Free PMC article. Review.
Techniques such as full-field electroretinography (ffERG), multifocal electroretinography (mfERG), pattern electroretinography (PERG), visual evoked potentials (VEP), and electrooculography (EOG) offer insights into retinal and optic nerve function, often detecting abnormalities …
Techniques such as full-field electroretinography (ffERG), multifocal electroretinography (mfERG), pattern electroretinography (PERG), visua …
41 results