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 *

176 related articles for article (PubMed ID: 8956940)

  • 1. Isolated dihydroxyacetonephosphate-acyl-transferase deficiency in rhizomelic chondrodysplasia punctata: clinical presentation, metabolic and histological findings.
    Hebestreit H; Wanders RJ; Schutgens RB; Espeel M; Kerckaert I; Roels F; Schmausser B; Schrod L; Marx A
    Eur J Pediatr; 1996 Dec; 155(12):1035-9. PubMed ID: 8956940
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Acyl-CoA:dihydroxyacetonephosphate acyltransferase: cloning of the human cDNA and resolution of the molecular basis in rhizomelic chondrodysplasia punctata type 2.
    Ofman R; Hettema EH; Hogenhout EM; Caruso U; Muijsers AO; Wanders RJ
    Hum Mol Genet; 1998 May; 7(5):847-53. PubMed ID: 9536089
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Abnormal myelin formation in rhizomelic chondrodysplasia punctata type 2 (DHAPAT-deficiency).
    Sztriha L; Al-Gazali LI; Wanders RJ; Ofman R; Nork M; Lestringant GG
    Dev Med Child Neurol; 2000 Jul; 42(7):492-5. PubMed ID: 10972423
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Rhizomelic chondrodysplasia punctata. Deficiency of 3-oxoacyl-coenzyme A thiolase in peroxisomes and impaired processing of the enzyme.
    Heikoop JC; van Roermund CW; Just WW; Ofman R; Schutgens RB; Heymans HS; Wanders RJ; Tager JM
    J Clin Invest; 1990 Jul; 86(1):126-30. PubMed ID: 2365812
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. Lethal form of chondrodysplasia punctata with normal plasmalogen and cholesterol biosynthesis.
    Kumada S; Hayashi M; Kenmochi J; Kurosawa S; Shimozawa N; Kratz LE; Kelley RI; Taki K; Okaniwa M
    Am J Med Genet; 2001 Jan; 98(3):250-5. PubMed ID: 11169563
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Ultrastructure and immunocytochemistry of hepatic peroxisomes in rhizomelic chondrodysplasia punctata.
    Hughes JL; Poulos A; Crane DI; Chow CW; Sheffield LJ; Sillence D
    Eur J Pediatr; 1992 Nov; 151(11):829-36. PubMed ID: 1468458
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Ether lipid biosynthesis: alkyl-dihydroxyacetonephosphate synthase protein deficiency leads to reduced dihydroxyacetonephosphate acyltransferase activities.
    de Vet EC; Ijlst L; Oostheim W; Dekker C; Moser HW; van Den Bosch H; Wanders RJ
    J Lipid Res; 1999 Nov; 40(11):1998-2003. PubMed ID: 10553003
    [TBL] [Abstract][Full Text] [Related]  

  • 15. MR imaging and MR spectroscopy in rhizomelic chondrodysplasia punctata.
    Viola A; Confort-Gouny S; Ranjeva JP; Chabrol B; Raybaud C; Vintila F; Cozzone PJ
    AJNR Am J Neuroradiol; 2002 Mar; 23(3):480-3. PubMed ID: 11901023
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. MRI of the brain and cervical spinal cord in rhizomelic chondrodysplasia punctata.
    Bams-Mengerink AM; Majoie CB; Duran M; Wanders RJ; Van Hove J; Scheurer CD; Barth PG; Poll-The BT
    Neurology; 2006 Mar; 66(6):798-803; discussion 789. PubMed ID: 16567694
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Rhizomelic chondrodysplasia punctata-like phenotype in a newborn male with normal peroxisomal function.
    Mota CR; Vilarinho A; Nogueira A; Lima MR
    J Pediatr Orthop B; 1997 Jan; 6(1):20-3. PubMed ID: 9039662
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Variant rhizomelic chondrodysplasia punctata (RCDP) with normal plasma phytanic acid: clinico-biochemical delineation of a subtype and complementation studies.
    Barth PG; Wanders RJ; Schutgens RB; Staalman CR
    Am J Med Genet; 1996 Mar; 62(2):164-8. PubMed ID: 8882397
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Isolated dihydroxyacetonephosphate acyltransferase deficiency presenting with developmental delay.
    Clayton PT; Eckhardt S; Wilson J; Hall CM; Yousuf Y; Wanders RJ; Schutgens RB
    J Inherit Metab Dis; 1994; 17(5):533-40. PubMed ID: 7530787
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.