BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

132 related articles for article (PubMed ID: 7807941)

  • 1. Human alkyldihydroxyacetonephosphate synthase deficiency: a new peroxisomal disorder.
    Wanders RJ; Dekker C; Hovarth VA; Schutgens RB; Tager JM; Van Laer P; Lecoutere D
    J Inherit Metab Dis; 1994; 17(3):315-8. PubMed ID: 7807941
    [No Abstract]   [Full Text] [Related]  

  • 2. A new type of chondrodysplasia punctata associated with peroxisomal dysfunction.
    Poll-The BT; Maroteaux P; Narcy C; Quetin P; Guesnu M; Wanders RJ; Schutgens RB; Saudubray JM
    J Inherit Metab Dis; 1991; 14(3):361-3. PubMed ID: 1770792
    [No Abstract]   [Full Text] [Related]  

  • 3. Non-rhizomelic and rhizomelic chondrodysplasia punctata within a single complementation group.
    Motley AM; Tabak HF; Smeitink JA; Poll-The BT; Barth PG; Wanders RJ
    Biochim Biophys Acta; 1996 Apr; 1315(3):153-8. PubMed ID: 8611652
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Immunological localization and tissue distribution of alkyldihydroxyacetonephosphate synthase and deficiency of the enzyme in peroxisomal disorders.
    de Vet EC; Biermann J; van den Bosch H
    Eur J Biochem; 1997 Jul; 247(2):511-7. PubMed ID: 9266692
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Genetic and biochemical heterogeneity in patients with the rhizomelic form of chondrodysplasia punctata--a complementation study.
    Heikoop JC; Wanders RJ; Strijland A; Purvis R; Schutgens RB; Tager JM
    Hum Genet; 1992 Jun; 89(4):439-44. PubMed ID: 1618493
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Peroxisomal 3-ketoacyl-CoA thiolase is partially processed in fibroblasts from patients with rhizomelic chondrodysplasia punctata.
    Suzuki Y; Shimozawa N; Izai K; Uchida Y; Miura K; Akatsuka H; Nagaya M; Yamaguchi S; Orii T
    J Inherit Metab Dis; 1993; 16(5):868-71. PubMed ID: 8295403
    [No Abstract]   [Full Text] [Related]  

  • 7. Phytanic acid alpha-oxidation and complementation analysis of classical Refsum and peroxisomal disorders.
    Poll-The BT; Skjeldal OH; Stokke O; Poulos A; Demaugre F; Saudubray JM
    Hum Genet; 1989 Jan; 81(2):175-81. PubMed ID: 2463966
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Peroxisomal enzyme deficiency in X-linked dominant Conradi-Hünermann syndrome.
    Clayton PT; Kalter DC; Atherton DJ; Besley GT; Broadhead DM
    J Inherit Metab Dis; 1989; 12 Suppl 2():358-60. PubMed ID: 2512444
    [No Abstract]   [Full Text] [Related]  

  • 9. Peroxisomal abnormality in fibroblasts from involved skin of CHILD syndrome. Case study and review of peroxisomal disorders in relation to skin disease.
    Emami S; Rizzo WB; Hanley KP; Taylor JM; Goldyne ME; Williams ML
    Arch Dermatol; 1992 Sep; 128(9):1213-22. PubMed ID: 1519936
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Aberrant subcellular localization of peroxisomal 3-ketoacyl-CoA thiolase in the Zellweger syndrome and rhizomelic chondrodysplasia punctata.
    Balfe A; Hoefler G; Chen WW; Watkins PA
    Pediatr Res; 1990 Mar; 27(3):304-10. PubMed ID: 2181395
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Rhizomelic chondrodysplasia punctata with isolated DHAP-AT deficiency.
    Barr DG; Kirk JM; al Howasi M; Wanders RJ; Schutgens RB
    Arch Dis Child; 1993 Mar; 68(3):415-7. PubMed ID: 8466247
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Peroxisomal enzyme deficiency in the Conradi-Hunerman form of chondrodysplasia punctata.
    Holmes RD; Wilson GN; Hajra AK
    N Engl J Med; 1987 Jun; 316(25):1608. PubMed ID: 3587298
    [No Abstract]   [Full Text] [Related]  

  • 13. Immunological analyses of alkyl-dihydroxyacetone-phosphate synthase in human peroxisomal disorders.
    Biermann J; Gootjes J; Humbel BM; Dansen TB; Wanders RJ; van den Bosch H
    Eur J Cell Biol; 1999 May; 78(5):339-48. PubMed ID: 10384985
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Human dihydroxyacetonephosphate acyltransferase deficiency: a new peroxisomal disorder.
    Wanders RJ; Schumacher H; Heikoop J; Schutgens RB; Tager JM
    J Inherit Metab Dis; 1992; 15(3):389-91. PubMed ID: 1405476
    [No Abstract]   [Full Text] [Related]  

  • 15. Biochemical abnormalities in rhizomelic chondrodysplasia punctata.
    Hoefler G; Hoefler S; Watkins PA; Chen WW; Moser A; Baldwin V; McGillivary B; Charrow J; Friedman JM; Rutledge L
    J Pediatr; 1988 May; 112(5):726-33. PubMed ID: 2452243
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Peroxisomes of normal morphology but deficient in 3-oxoacyl-CoA thiolase in rhizomelic chondrodysplasia punctata fibroblasts.
    Heikoop JC; Van den Berg M; Strijland A; Weijers PJ; Schutgens RB; Just WW; Wanders RJ; Tager JM
    Biochim Biophys Acta; 1991 Jul; 1097(1):62-70. PubMed ID: 1677591
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Alkyl dihydroxyacetone phosphate synthase in human fibroblasts and its deficiency in Zellweger syndrome.
    Schrakamp G; Roosenboom CF; Schutgens RB; Wanders RJ; Heymans HS; Tager JM; van den Bosch H
    J Lipid Res; 1985 Jul; 26(7):867-73. PubMed ID: 4031664
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Alkyldihydroxyacetonephosphate synthase from guinea pig liver peroxisomes.
    Horie S; Das AK; Hajra AK
    Methods Enzymol; 1992; 209():385-90. PubMed ID: 1495419
    [No Abstract]   [Full Text] [Related]  

  • 19. Peroxisomal disorders.
    Moser HW
    J Pediatr; 1986 Jan; 108(1):89-91. PubMed ID: 2418188
    [No Abstract]   [Full Text] [Related]  

  • 20. Infantile Refsum disease: deficiency of catalase-containing particles (peroxisomes), alkyldihydroxyacetone phosphate synthase and peroxisomal beta-oxidation enzyme proteins.
    Wanders RJ; Schutgens RB; Schrakamp G; van den Bosch H; Tager JM; Schram AW; Hashimoto T; Poll-Thé BT; Saudubrau JM
    Eur J Pediatr; 1986 Aug; 145(3):172-5. PubMed ID: 2429839
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.