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.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

116 related articles for article (PubMed ID: 1770792)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. Phytanic acid alpha-oxidation. Differential subcellular localization in rat and human tissues and its inhibition by nycodenz.
    Singh I; Pahan K; Dhaunsi GS; Lazo O; Ozand P
    J Biol Chem; 1993 May; 268(14):9972-9. PubMed ID: 8486724
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. 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]  

  • 7. Phytanic acid oxidation: normal activation and transport yet defective alpha-hydroxylation of phytanic acid in peroxisomes from Refsum disease and rhizomelic chondrodysplasia punctata.
    Pahan K; Khan M; Singh I
    J Lipid Res; 1996 May; 37(5):1137-43. PubMed ID: 8725164
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Accumulation of pristanic acid (2, 6, 10, 14 tetramethylpentadecanoic acid) in the plasma of patients with generalised peroxisomal dysfunction.
    Poulos A; Sharp P; Fellenberg AJ; Johnson DW
    Eur J Pediatr; 1988 Feb; 147(2):143-7. PubMed ID: 2452737
    [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. X-linked dominant chondrodysplasia punctata: a peroxisomal disorder?
    Wilson CJ; Aftimos S
    Am J Med Genet; 1998 Jul; 78(3):300-2. PubMed ID: 9677071
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Chondrodysplasia punctata: further evidence of heterogeneity.
    Norman AM; Jivani S; Kingston HM
    Clin Dysmorphol; 1992 Jul; 1(3):161-4. PubMed ID: 1342864
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Bone dysplasia associated with phytanic acid accumulation and deficient plasmalogen synthesis: a peroxisomal entity amenable to plasmapheresis.
    Smeitink JA; Beemer FA; Espeel M; Donckerwolcke RA; Jakobs C; Wanders RJ; Schutgens RB; Roels F; Duran M; Dorland L
    J Inherit Metab Dis; 1992; 15(3):377-80. PubMed ID: 1405474
    [No Abstract]   [Full Text] [Related]  

  • 14. 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]  

  • 15. Peroxisomal functions in classical Refsum's disease: comparison with the infantile form of Refsum's disease.
    Wanders RJ; Heymans HS; Schutgens RB; Poll-Thé BT; Saudubray JM; Tager JM; Schrakamp G; van den Bosch H
    J Neurol Sci; 1988 Apr; 84(2-3):147-55. PubMed ID: 2454298
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Peroxisomes in infantile phytanic acid storage disease: a cytochemical study of skin fibroblasts.
    Beard ME; Moser AB; Sapirstein V; Holtzman E
    J Inherit Metab Dis; 1986; 9(4):321-34. PubMed ID: 2435984
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Rhizomelic chondrodysplasia punctata--a new clinical variant.
    Gray RG; Green A; Chapman S; McKeown C; Schutgens RB; Wanders RJ
    J Inherit Metab Dis; 1992; 15(6):931-2. PubMed ID: 1293391
    [No Abstract]   [Full Text] [Related]  

  • 18. Mitochondrial oxidation of phytanic acid in human and monkey liver: implication that Refsum's disease is not a peroxisomal disorder.
    Watkins PA; Mihalik SJ
    Biochem Biophys Res Commun; 1990 Mar; 167(2):580-6. PubMed ID: 1690986
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Phytanic acid alpha-oxidation in peroxisomal disorders: studies in cultured human fibroblasts.
    Verhoeven NM; Schor DS; Roe CR; Wanders RJ; Jakobs C
    Biochim Biophys Acta; 1997 Oct; 1361(3):281-6. PubMed ID: 9375802
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Rhizomelic chondrodysplasia punctata: biochemical studies of peroxisomes isolated from cultured skin fibroblasts.
    Singh I; Lazo O; Contreras M; Stanley W; Hashimoto T
    Arch Biochem Biophys; 1991 Apr; 286(1):277-83. PubMed ID: 1680308
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.