Impaired Kidney Function With Kidney Tubular Vacuolization and Crystals in Adult Refsum Disease: A Case Report. [PDF]
Kidney MedLee CYJ +5 more
europepmc +1 more source
Infantile Refsum Disease: Influence of Dietary Treatment on Plasma Phytanic Acid Levels. [PDF]
JIMD Rep, 2016 Sá MJ +12 more
europepmc +1 more source
Hyperhomocysteinemia: relation to cardiovascular disease and venous thromboembolism [PDF]
, 2012 Jurdana, Mihaela, Plazar, Nadja
core +2 more sources
Brain Lipotoxicity of Phytanic Acid and Very Long-chain Fatty Acids. Harmful Cellular/Mitochondrial Activities in Refsum Disease and X-Linked Adrenoleukodystrophy. [PDF]
Aging Dis, 2016 Schönfeld P, Reiser G.
europepmc +1 more source
PHYH c.678+5G>T Leads to In-Frame Exon Skipping and Is Associated With Attenuated Refsum Disease. [PDF]
Invest Ophthalmol Vis SciDaich Varela M +7 more
europepmc +1 more source
Ultrastructure of skin from Refsum disease with emphasis on epidermal lamellar bodies and stratum corneum barrier lipid organization. [PDF]
Arch Dermatol Res, 2014 Menon GK +5 more
europepmc +1 more source
Biallelic Deletion of <i>PEX26</i> Exon 4 in a Boy with Phenotypic Features of both Zellweger Syndrome and Infantile Refsum Disease. [PDF]
Mol SyndromolYalçınkaya B +5 more
europepmc +1 more source
Erratum—Refsum's disease [PDF]
QJM: An International Journal of Medicine, 2001 A.J. Wills, N.J. Manning, M.M. Reilly
openaire +1 more source
High dose folic acid does not improve endothelial function in hyperhomocysteinaemic subjects without additional cardiovascular risk factors [PDF]
, 2004 Celemajer, David E +3 more
core +1 more source