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Journal Abstract Search

362 related items for PubMed ID: 17378665

  • 1. Precholesterol sterols accumulate in lipid rafts of patients with Smith-Lemli-Opitz syndrome and X-linked dominant chondrodysplasia punctata.
    Rakheja D, Boriack RL.
    Pediatr Dev Pathol; 2008; 11(2):128-32. PubMed ID: 17378665
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  • 2. Disorders of post-squalene cholesterol biosynthesis leading to human dysmorphogenesis.
    Andersson HC.
    Cell Mol Biol (Noisy-le-grand); 2002 Mar; 48(2):173-7. PubMed ID: 11990452
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  • 3. Inborn errors of cholesterol biosynthesis.
    Kelley RI.
    Adv Pediatr; 2000 Mar; 47():1-53. PubMed ID: 10959439
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  • 4. Smith-Lemli-Opitz syndrome: prenatal diagnosis by quantification of cholesterol precursors in amniotic fluid.
    Rossiter JP, Hofman KJ, Kelley RI.
    Am J Med Genet; 1995 Apr 10; 56(3):272-5. PubMed ID: 7778588
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  • 5. X-linked dominant chondrodysplasia punctata (CDPX2): multisystemic impact of the defect in cholesterol biosynthesis.
    Martanová H, Krepelová A, Baxová A, Hansíková H, Cánský Z, Kvapil M, Gregor V, Magner M, Zeman J.
    Prague Med Rep; 2007 Apr 10; 108(3):263-9. PubMed ID: 18399064
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  • 6. Cholesterol metabolism deficiency.
    Jira P.
    Handb Clin Neurol; 2013 Apr 10; 113():1845-50. PubMed ID: 23622407
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  • 7. Sterol profiles in plasma and erythrocyte membranes in patients with Smith-Lemli-Opitz syndrome: a six-year experience.
    Corso G, Gelzo M, Barone R, Clericuzio S, Pianese P, Nappi A, Dello Russo A.
    Clin Chem Lab Med; 2011 Aug 24; 49(12):2039-46. PubMed ID: 21864209
    [Abstract] [Full Text] [Related]

  • 8. Holoprosencephaly in RSH/Smith-Lemli-Opitz syndrome: does abnormal cholesterol metabolism affect the function of Sonic Hedgehog?
    Kelley RL, Roessler E, Hennekam RC, Feldman GL, Kosaki K, Jones MC, Palumbos JC, Muenke M.
    Am J Med Genet; 1996 Dec 30; 66(4):478-84. PubMed ID: 8989473
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  • 9. Genetic defects in postsqualene cholesterol biosynthesis.
    Moebius FF, Fitzky BU, Glossmann H.
    Trends Endocrinol Metab; 2000 Apr 30; 11(3):106-14. PubMed ID: 10707051
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  • 10. Fetal Smith-Lemli-Opitz syndrome can be detected accurately and reliably by measuring amniotic fluid dehydrocholesterols.
    Tint GS, Abuelo D, Till M, Cordier MP, Batta AK, Shefer S, Honda A, Honda M, Xu G, Irons M, Elias ER, Salen G.
    Prenat Diagn; 1998 Jul 30; 18(7):651-8. PubMed ID: 9706645
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  • 20. Sterol profiling of amniotic fluid: a routine method for the detection of distal cholesterol synthesis deficit.
    Chevy F, Humbert L, Wolf C.
    Prenat Diagn; 2005 Nov 30; 25(11):1000-6. PubMed ID: 16231320
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