These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
9. 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. Finsterer J; Regelsberger G; Voigtländer T J Neurol Sci; 2008 Mar; 266(1-2):182-6. PubMed ID: 17905308 [TBL] [Abstract][Full Text] [Related]
10. Phytanoyl-CoA hydroxylase is present in human liver, located in peroxisomes, and deficient in Zellweger syndrome: direct, unequivocal evidence for the new, revised pathway of phytanic acid alpha-oxidation in humans. Jansen GA; Mihalik SJ; Watkins PA; Moser HW; Jakobs C; Denis S; Wanders RJ Biochem Biophys Res Commun; 1996 Dec; 229(1):205-10. PubMed ID: 8954107 [TBL] [Abstract][Full Text] [Related]
11. Atypical refsum disease with pipecolic acidemia and abnormal catalase distribution. Baumgartner MR; Jansen GA; Verhoeven NM; Mooyer PA; Jakobs C; Roels F; Espeel M; Fourmaintraux A; Bellet H; Wanders RJ; Saudubray JM Ann Neurol; 2000 Jan; 47(1):109-13. PubMed ID: 10632109 [TBL] [Abstract][Full Text] [Related]
13. Identification of a brain specific protein that associates with a refsum disease gene product, phytanoyl-CoA alpha-hydroxylase. Lee ZH; Kim H; Ahn KY; Seo KH; Kim JK; Bae CS; Kim KK Brain Res Mol Brain Res; 2000 Feb; 75(2):237-47. PubMed ID: 10686344 [TBL] [Abstract][Full Text] [Related]
14. Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy. Ferdinandusse S; Denis S; Clayton PT; Graham A; Rees JE; Allen JT; McLean BN; Brown AY; Vreken P; Waterham HR; Wanders RJ Nat Genet; 2000 Feb; 24(2):188-91. PubMed ID: 10655068 [TBL] [Abstract][Full Text] [Related]
15. Identification of pristanal dehydrogenase activity in peroxisomes: conclusive evidence that the complete phytanic acid alpha-oxidation pathway is localized in peroxisomes. Jansen GA; van den Brink DM; Ofman R; Draghici O; Dacremont G; Wanders RJ Biochem Biophys Res Commun; 2001 May; 283(3):674-9. PubMed ID: 11341778 [TBL] [Abstract][Full Text] [Related]
16. Further studies on the substrate spectrum of phytanoyl-CoA hydroxylase: implications for Refsum disease? Foulon V; Asselberghs S; Geens W; Mannaerts GP; Casteels M; Van Veldhoven PP J Lipid Res; 2003 Dec; 44(12):2349-55. PubMed ID: 12923223 [TBL] [Abstract][Full Text] [Related]
17. Ataxia with loss of Purkinje cells in a mouse model for Refsum disease. Ferdinandusse S; Zomer AW; Komen JC; van den Brink CE; Thanos M; Hamers FP; Wanders RJ; van der Saag PT; Poll-The BT; Brites P Proc Natl Acad Sci U S A; 2008 Nov; 105(46):17712-7. PubMed ID: 19004801 [TBL] [Abstract][Full Text] [Related]
18. [Analysis, identification and correction of some errors of model refseqs appeared in NCBI Human Gene Database by in silico cloning and experimental verification of novel human genes]. Zhang DL; Ji L; Li YD Yi Chuan Xue Bao; 2004 May; 31(5):431-43. PubMed ID: 15478601 [TBL] [Abstract][Full Text] [Related]
19. Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor. Motley AM; Hettema EH; Hogenhout EM; Brites P; ten Asbroek AL; Wijburg FA; Baas F; Heijmans HS; Tabak HF; Wanders RJ; Distel B Nat Genet; 1997 Apr; 15(4):377-80. PubMed ID: 9090382 [TBL] [Abstract][Full Text] [Related]
20. Isolation and characterization of rat and human cDNAs encoding a novel putative peroxisomal enoyl-CoA hydratase. FitzPatrick DR; Germain-Lee E; Valle D Genomics; 1995 Jun; 27(3):457-66. PubMed ID: 7558027 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]