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Journal Abstract Search

175 related items for PubMed ID: 23509885

  • 1. Living with inborn errors of cholesterol biosynthesis: lessons from adult patients.
    Cardoso ML, Barbosa M, Serra D, Martins E, Fortuna A, Reis-Lima M, Bandeira A, Balreira A, Marques F.
    Clin Genet; 2014 Feb; 85(2):184-8. PubMed ID: 23509885
    [Abstract] [Full Text] [Related]

  • 2. Cholesterol metabolism deficiency.
    Jira P.
    Handb Clin Neurol; 2013 Feb; 113():1845-50. PubMed ID: 23622407
    [Abstract] [Full Text] [Related]

  • 3. Inherited disorders of cholesterol biosynthesis.
    Haas D, Kelley RI, Hoffmann GF.
    Neuropediatrics; 2001 Jun; 32(3):113-22. PubMed ID: 11521206
    [Abstract] [Full Text] [Related]

  • 4. 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 Jun; 11(2):128-32. PubMed ID: 17378665
    [Abstract] [Full Text] [Related]

  • 5. Topical Cholesterol/Simvastatin Gel for the Treatment of CHILD Syndrome in an Adolescent.
    Cho SK, Ashworth LD, Goldman S.
    Int J Pharm Compd; 2020 Jun; 24(5):367-369. PubMed ID: 32886633
    [Abstract] [Full Text] [Related]

  • 6. Sterol metabolism disorders and neurodevelopment-an update.
    Kanungo S, Soares N, He M, Steiner RD.
    Dev Disabil Res Rev; 2013 Jun; 17(3):197-210. PubMed ID: 23798009
    [Abstract] [Full Text] [Related]

  • 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. Human malformation syndromes due to inborn errors of cholesterol synthesis.
    Porter FD.
    Curr Opin Pediatr; 2003 Dec 24; 15(6):607-13. PubMed ID: 14631207
    [Abstract] [Full Text] [Related]

  • 9. Inborn errors of cholesterol biosynthesis.
    Kelley RI.
    Adv Pediatr; 2000 Dec 24; 47():1-53. PubMed ID: 10959439
    [Abstract] [Full Text] [Related]

  • 10. Tympanoxyloid verruciform xanthoma is a distinct feature of CHILD nevus.
    Juratli HA, König A, Happle R.
    J Eur Acad Dermatol Venereol; 2020 Feb 24; 34(2):e70-e72. PubMed ID: 31502355
    [No Abstract] [Full Text] [Related]

  • 11. Malformation syndromes caused by disorders of cholesterol synthesis.
    Porter FD, Herman GE.
    J Lipid Res; 2011 Jan 24; 52(1):6-34. PubMed ID: 20929975
    [Abstract] [Full Text] [Related]

  • 12. Disorders of cholesterol metabolism and their unanticipated convergent mechanisms of disease.
    Platt FM, Wassif C, Colaco A, Dardis A, Lloyd-Evans E, Bembi B, Porter FD.
    Annu Rev Genomics Hum Genet; 2014 Jan 24; 15():173-94. PubMed ID: 25184529
    [Abstract] [Full Text] [Related]

  • 13. A novel X-chromosomal microdeletion encompassing congenital hemidysplasia with ichthyosiform erythroderma and limb defects.
    Raychaudhury T, George R, Mandal K, Srivastava VM, Thomas M, Bornholdt D, Grzeschik KH, Koehler A.
    Pediatr Dermatol; 2013 Jan 24; 30(2):250-2. PubMed ID: 22471832
    [Abstract] [Full Text] [Related]

  • 14. Disorders of sterol synthesis: beyond Smith-Lemli-Opitz syndrome.
    Herman GE, Kratz L.
    Am J Med Genet C Semin Med Genet; 2012 Nov 15; 160C(4):301-21. PubMed ID: 23042573
    [Abstract] [Full Text] [Related]

  • 15. CHILD Syndrome: Successful Treatment of Skin Lesions with Topical Simvastatin/Cholesterol Ointment--A Case Report.
    Alexopoulos A, Kakourou T.
    Pediatr Dermatol; 2015 Nov 15; 32(4):e145-7. PubMed ID: 25845514
    [Abstract] [Full Text] [Related]

  • 16. Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis.
    Rossi M, Hall CM, Bouvier R, Collardeau-Frachon S, Le Breton F, Bucourt M, Cordier MP, Vianey-Saban C, Parenti G, Andria G, Le Merrer M, Edery P, Offiah AC.
    Pediatr Radiol; 2015 Jul 15; 45(7):965-76. PubMed ID: 25646736
    [Abstract] [Full Text] [Related]

  • 17. Genetic disorders of cholesterol biosynthesis in mice and humans.
    Nwokoro NA, Wassif CA, Porter FD.
    Mol Genet Metab; 2001 Jul 15; 74(1-2):105-19. PubMed ID: 11592808
    [Abstract] [Full Text] [Related]

  • 18. The role of abnormalities in the distal pathway of cholesterol synthesis in the Congenital Hemidysplasia with Ichthyosiform erythroderma and Limb Defects (CHILD) syndrome.
    Seeger MA, Paller AS.
    Biochim Biophys Acta; 2014 Mar 15; 1841(3):345-52. PubMed ID: 24060582
    [Abstract] [Full Text] [Related]

  • 19. Late evolution of giant verruciform xanthoma in the setting of CHILD syndrome.
    Kurban M, Abbas O, Ghosn S, Kibbi AG.
    Pediatr Dermatol; 2010 Mar 15; 27(5):551-3. PubMed ID: 20796237
    [Abstract] [Full Text] [Related]

  • 20. 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 Mar 15; 108(3):263-9. PubMed ID: 18399064
    [Abstract] [Full Text] [Related]

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