BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

235 related articles for article (PubMed ID: 1939650)

  • 21. Sjögren-Larsson syndrome: molecular genetics and biochemical pathogenesis of fatty aldehyde dehydrogenase deficiency.
    Rizzo WB
    Mol Genet Metab; 2007 Jan; 90(1):1-9. PubMed ID: 16996289
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Fatty aldehyde dehydrogenase: genomic structure, expression and mutation analysis in Sjögren-Larsson syndrome.
    Rizzo WB; Lin Z; Carney G
    Chem Biol Interact; 2001 Jan; 130-132(1-3):297-307. PubMed ID: 11306053
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Sjögren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene.
    De Laurenzi V; Rogers GR; Hamrock DJ; Marekov LN; Steinert PM; Compton JG; Markova N; Rizzo WB
    Nat Genet; 1996 Jan; 12(1):52-7. PubMed ID: 8528251
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Sjögren-Larsson syndrome: A biochemical rationale for using aldehyde-reactive therapeutic agents.
    Rizzo WB; S'aulis D; Dorwart E; Bailey Z
    Mol Genet Metab Rep; 2022 Mar; 30():100839. PubMed ID: 35242571
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Enzymatic diagnosis of Sjögren-Larsson syndrome using electrospray ionization mass spectrometry.
    Sanders RJ; Ofman R; Dekker C; Kemp S; Wanders RJ
    J Chromatogr B Analyt Technol Biomed Life Sci; 2009 Feb; 877(4):451-5. PubMed ID: 19124283
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Sjögren-Larsson syndrome: accumulation of free fatty alcohols in cultured fibroblasts and plasma.
    Rizzo WB; Craft DA
    J Lipid Res; 2000 Jul; 41(7):1077-81. PubMed ID: 10884288
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Defective metabolism of leukotriene B4 in the Sjögren-Larsson syndrome.
    Willemsen MA; Rotteveel JJ; de Jong JG; Wanders RJ; IJlst L; Hoffmann GF; Mayatepek E
    J Neurol Sci; 2001 Jan; 183(1):61-7. PubMed ID: 11166796
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Genotype and phenotype variability in Sjögren-Larsson syndrome.
    Weustenfeld M; Eidelpes R; Schmuth M; Rizzo WB; Zschocke J; Keller MA
    Hum Mutat; 2019 Feb; 40(2):177-186. PubMed ID: 30372562
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Plasmalogens and fatty alcohols in rhizomelic chondrodysplasia punctata and Sjögren-Larsson syndrome.
    Malheiro AR; da Silva TF; Brites P
    J Inherit Metab Dis; 2015 Jan; 38(1):111-21. PubMed ID: 25432520
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Sjögren-Larsson syndrome: diversity of mutations and polymorphisms in the fatty aldehyde dehydrogenase gene (ALDH3A2).
    Rizzo WB; Carney G
    Hum Mutat; 2005 Jul; 26(1):1-10. PubMed ID: 15931689
    [TBL] [Abstract][Full Text] [Related]  

  • 31. The molecular basis of Sjögren-Larsson syndrome: mutation analysis of the fatty aldehyde dehydrogenase gene.
    Rizzo WB; Carney G; Lin Z
    Am J Hum Genet; 1999 Dec; 65(6):1547-60. PubMed ID: 10577908
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Isolation and characterization of a Chinese hamster ovary cell line deficient in fatty alcohol:NAD+ oxidoreductase activity.
    James PF; Rizzo WB; Lee J; Zoeller RA
    Proc Natl Acad Sci U S A; 1990 Aug; 87(16):6102-6. PubMed ID: 2201021
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Redefining the Sjögren-Larsson syndrome: atypical findings in three siblings and implications regarding diagnosis.
    Nigro JF; Rizzo WB; Esterly NB
    J Am Acad Dermatol; 1996 Nov; 35(5 Pt 1):678-84. PubMed ID: 8912560
    [TBL] [Abstract][Full Text] [Related]  

  • 34. A gatekeeper helix determines the substrate specificity of Sjögren-Larsson Syndrome enzyme fatty aldehyde dehydrogenase.
    Keller MA; Zander U; Fuchs JE; Kreutz C; Watschinger K; Mueller T; Golderer G; Liedl KR; Ralser M; Kräutler B; Werner ER; Marquez JA
    Nat Commun; 2014 Jul; 5():4439. PubMed ID: 25047030
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Sjögren-Larsson syndrome: clinical and MRI/MRS findings in FALDH-deficient patients.
    van Domburg PH; Willemsen MA; Rotteveel JJ; de Jong JG; Thijssen HO; Heerschap A; Cruysberg JR; Wanders RJ; Gabreëls FJ; Steijlen PM
    Neurology; 1999 Apr; 52(7):1345-52. PubMed ID: 10227616
    [TBL] [Abstract][Full Text] [Related]  

  • 36. A common deletion mutation in European patients with Sjögren-Larsson syndrome.
    Rizzo WB; Carney G; De Laurenzi V
    Biochem Mol Med; 1997 Dec; 62(2):178-81. PubMed ID: 9441870
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Proton magnetic resonance spectroscopy of Sjögren-Larsson syndrome heterozygotes.
    Kaminaga T; Mano T; Ono J; Kusuoka H; Nakamura H; Nishimura T
    Magn Reson Med; 2001 Jun; 45(6):1112-5. PubMed ID: 11378890
    [TBL] [Abstract][Full Text] [Related]  

  • 38. 1-O-Alkylglycerol accumulation reveals abnormal ether glycerolipid metabolism in Sjögren-Larsson syndrome.
    S'aulis D; Khoury EA; Zabel M; Rizzo WB
    Mol Genet Metab; 2020; 131(1-2):253-258. PubMed ID: 32800643
    [TBL] [Abstract][Full Text] [Related]  

  • 39. 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]  

  • 40. Sjögren-Larsson syndrome is caused by a common mutation in northern European and Swedish patients.
    De Laurenzi V; Rogers GR; Tarcsa E; Carney G; Marekov L; Bale SJ; Compton JG; Markova N; Steinert PM; Rizzo WB
    J Invest Dermatol; 1997 Jul; 109(1):79-83. PubMed ID: 9204959
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 12.