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Abbreviation : RD
Long Form : Refsum disease
No. Year Title Co-occurring Abbreviation
2015 Phytol in a pharma-medico-stance. CP, PA, PYT, RZCP, SLS, ZDHA
2015 Reactive nitrogen species mediate oxidative stress and astrogliosis provoked by in vivo administration of phytanic acid in cerebellum of adolescent rats: A potential contributing pathomechanism of cerebellar injury in peroxisomal disorders. CAT, DCFH, G6PD, GPx, GR, L-NAME, MDA, NO, Phyt, RNS, SOD, ZS
2014 Ultrastructure of skin from Refsum disease with emphasis on epidermal lamellar bodies and stratum corneum barrier lipid organization. CLE, LB, PA
2011 [Autosomal recessive cerebellar ataxias]. ABL, AOA1, ARCA, AT, AVED, FRDA, MSS
2008 Refsum disease due to the splice-site mutation c.135-2A>G before exon 3 of the PHYH gene, diagnosed eight years after detection of retinitis pigmentosa. PA
2005 Structure of human phytanoyl-CoA 2-hydroxylase identifies molecular mechanisms of Refsum disease. 2OG, PAHX
2003 Identification of PEX7 as the second gene involved in Refsum disease. PHYH
2000 Human phytanoyl-CoA hydroxylase: resolution of the gene structure and the molecular basis of Refsum's disease. PHYH
1998 Restoration of phytanic acid oxidation in Refsum disease fibroblasts from patients with mutations in the phytanoyl-CoA hydroxylase gene. PAHX
10  1997 Lipoprotein[a] is not present in the plasma of patients with some peroxisomal disorders. ELISA, LDL, RCDP, X-ALD
11  1996 Phytanic acid oxidation: normal activation and transport yet defective alpha-hydroxylation of phytanic acid in peroxisomes from Refsum disease and rhizomelic chondrodysplasia punctata. RCDP
12  1986 Partial deficiency of dihydroxyacetone phosphate acyltransferase activity in both classical and infantile Refsum's diseases. DHAP-AT, IRD, ZS