BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

167 related articles for article (PubMed ID: 11165012)

  • 1. Molecular basis of D-bifunctional protein deficiency.
    Möller G; van Grunsven EG; Wanders RJ; Adamski J
    Mol Cell Endocrinol; 2001 Jan; 171(1-2):61-70. PubMed ID: 11165012
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Peroxisomal D-hydroxyacyl-CoA dehydrogenase deficiency: resolution of the enzyme defect and its molecular basis in bifunctional protein deficiency.
    van Grunsven EG; van Berkel E; Ijlst L; Vreken P; de Klerk JB; Adamski J; Lemonde H; Clayton PT; Cuebas DA; Wanders RJ
    Proc Natl Acad Sci U S A; 1998 Mar; 95(5):2128-33. PubMed ID: 9482850
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Enoyl-CoA hydratase deficiency: identification of a new type of D-bifunctional protein deficiency.
    van Grunsven EG; Mooijer PA; Aubourg P; Wanders RJ
    Hum Mol Genet; 1999 Aug; 8(8):1509-16. PubMed ID: 10400999
    [TBL] [Abstract][Full Text] [Related]  

  • 4. D-3-hydroxyacyl-CoA dehydratase/D-3-hydroxyacyl-CoA dehydrogenase bifunctional protein deficiency: a newly identified peroxisomal disorder.
    Suzuki Y; Jiang LL; Souri M; Miyazawa S; Fukuda S; Zhang Z; Une M; Shimozawa N; Kondo N; Orii T; Hashimoto T
    Am J Hum Genet; 1997 Nov; 61(5):1153-62. PubMed ID: 9345094
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Bile acid profiles in a peroxisomal D-3-hydroxyacyl-CoA dehydratase/D-3-hydroxyacyl-CoA dehydrogenase bifunctional protein deficiency.
    Une M; Konishi M; Suzuki Y; Akaboshi S; Yoshii M; Kuramoto T; Fujimura K
    J Biochem; 1997 Sep; 122(3):655-8. PubMed ID: 9348098
    [TBL] [Abstract][Full Text] [Related]  

  • 6. D-bifunctional protein deficiency with fetal ascites, polyhydramnios, and contractures of hands and toes.
    Nakano K; Zhang Z; Shimozawa N; Kondo N; Ishii N; Funatsuka M; Shirakawa S; Itoh M; Takashima S; Une M; Kana-aki RR; Mukai K; Osawa M; Suzuki Y
    J Pediatr; 2001 Dec; 139(6):865-7. PubMed ID: 11743515
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Molecular analysis of genomic DNA allows rapid, and accurate, prenatal diagnosis of peroxisomal D-bifunctional protein deficiency.
    Paton BC; Solly PB; Nelson PV; Pollard AN; Sharp PC; Fietz MJ
    Prenat Diagn; 2002 Jan; 22(1):38-41. PubMed ID: 11810648
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Developmental and pathological expression of peroxisomal enzymes: their relationship of D-bifunctional protein deficiency and Zellweger syndrome.
    Itoh M; Suzuki Y; Akaboshi S; Zhang Z; Miyabara S; Takashima S
    Brain Res; 2000 Mar; 858(1):40-7. PubMed ID: 10700594
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Peroxisomal bifunctional enzyme deficiency.
    Watkins PA; Chen WW; Harris CJ; Hoefler G; Hoefler S; Blake DC; Balfe A; Kelley RI; Moser AB; Beard ME
    J Clin Invest; 1989 Mar; 83(3):771-7. PubMed ID: 2921319
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Reinvestigation of peroxisomal 3-ketoacyl-CoA thiolase deficiency: identification of the true defect at the level of d-bifunctional protein.
    Ferdinandusse S; van Grunsven EG; Oostheim W; Denis S; Hogenhout EM; IJlst L; van Roermund CW; Waterham HR; Goldfischer S; Wanders RJ
    Am J Hum Genet; 2002 Jun; 70(6):1589-93. PubMed ID: 11992265
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A novel HPLC-based method to diagnose peroxisomal D-bifunctional protein enoyl-CoA hydratase deficiency.
    Gloerich J; Denis S; van Grunsven EG; Dacremont G; Wanders RJ; Ferdinandusse S
    J Lipid Res; 2003 Mar; 44(3):640-4. PubMed ID: 12562856
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Peroxisomal bifunctional protein deficiency revisited: resolution of its true enzymatic and molecular basis.
    van Grunsven EG; van Berkel E; Mooijer PA; Watkins PA; Moser HW; Suzuki Y; Jiang LL; Hashimoto T; Hoefler G; Adamski J; Wanders RJ
    Am J Hum Genet; 1999 Jan; 64(1):99-107. PubMed ID: 9915948
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Prenatal diagnosis of peroxisomal D-3-hydroxyacyl-CoA dehydratase/D-3-hydroxyacyl-CoA dehydrogenase bifunctional protein deficiency.
    Suzuki Y; Zhang Z; Shimozawa N; Muro M; Shono H; Toda S; Miyahara S; Hashimoto T; Usuda N; Ito M; Takashima S; Kondo N
    J Hum Genet; 1999; 44(3):143-7. PubMed ID: 10319576
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Evidence for increased oxidative stress in peroxisomal D-bifunctional protein deficiency.
    Ferdinandusse S; Finckh B; de Hingh YC; Stroomer LE; Denis S; Kohlschütter A; Wanders RJ
    Mol Genet Metab; 2003 Aug; 79(4):281-7. PubMed ID: 12948743
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Clinical consequences of defects in peroxisomal beta-oxidation.
    Clayton PT
    Biochem Soc Trans; 2001 May; 29(Pt 2):298-305. PubMed ID: 11356171
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [Peroxisomal disorders].
    Suzuki Y; Shimozawa N; Imamura A; Kondo N
    Ryoikibetsu Shokogun Shirizu; 2000; (29 Pt 4):452-9. PubMed ID: 11031991
    [No Abstract]   [Full Text] [Related]  

  • 17. Molecular analysis of peroxisomal beta-oxidation enzymes in infants with peroxisomal disorders indicates heterogeneity of the primary defect.
    Guerroui S; Aubourg P; Chen WW; Hashimoto T; Scotto J
    Biochem Biophys Res Commun; 1989 May; 161(1):242-51. PubMed ID: 2471528
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Complementation analysis of fibroblasts from peroxisomal fatty acid oxidation deficient patients shows high frequency of bifunctional enzyme deficiency plus intragenic complementation: unequivocal evidence for differential defects in the same enzyme protein.
    van Grunsven EG; van Roermund CW; Denis S; Wanders RJ
    Biochem Biophys Res Commun; 1997 Jun; 235(1):176-9. PubMed ID: 9196058
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Sensitive analysis of serum 3alpha, 7alpha, 12alpha,24-tetrahydroxy- 5beta-cholestan-26-oic acid diastereomers using gas chromatography-mass spectrometry and its application in peroxisomal D-bifunctional protein deficiency.
    Vreken P; van Rooij A; Denis S; van Grunsven EG; Cuebas DA; Wanders RJ
    J Lipid Res; 1998 Dec; 39(12):2452-8. PubMed ID: 9831634
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Molecular changes in the D-bifunctional protein cDNA sequence in Australasian patients belonging to the bifunctional protein complementation group.
    Paton BC; Pollard AN
    Cell Biochem Biophys; 2000; 32 Spring():247-51. PubMed ID: 11330053
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.