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 *

111 related articles for article (PubMed ID: 10833186)

  • 1. Diagnosis of Smith-Lemli-Opitz syndrome from stored filter paper blood specimens.
    Starck L; Lövgren A
    Arch Dis Child; 2000 Jun; 82(6):490-2. PubMed ID: 10833186
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Direct analysis of filter paper blood specimens for identification of Smith-Lemli-Opitz syndrome using time-of-flight secondary ion mass spectrometry.
    Zimmerman PA; Hercules DM; Naylor EW
    Am J Med Genet; 1997 Jan; 68(3):300-4. PubMed ID: 9024563
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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; 49(12):2039-46. PubMed ID: 21864209
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Pitfalls in measuring plasma cholesterol in the Smith-Lemli-Opitz syndrome.
    Jira PE; de Jong JG; Janssen-Zijlstra FS; Wendel U; Wevers RA
    Clin Chem; 1997 Jan; 43(1):129-33. PubMed ID: 8990234
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A reliable tool for detecting 7-dehydrocholesterol and cholesterol in human plasma and its use in diagnosis of Smith-Lemli-Opitz syndrome.
    Luo Y; Liu Z; Zeng Y; Zhang Y; Luan Y; Ma L; Chen L; Zou L; Yang J; Huang Z; Rao Y; Zhang C
    J Sep Sci; 2022 Mar; 45(5):1080-1093. PubMed ID: 34962712
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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; 18(7):651-8. PubMed ID: 9706645
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Oxysterols in the circulation of patients with the Smith-Lemli-Opitz syndrome: abnormal levels of 24S- and 27-hydroxycholesterol.
    Björkhem I; Starck L; Andersson U; Lütjohann D; von Bahr S; Pikuleva I; Babiker A; Diczfalusy U
    J Lipid Res; 2001 Mar; 42(3):366-71. PubMed ID: 11254748
    [TBL] [Abstract][Full Text] [Related]  

  • 8. [Biochemical diagnosis of Smith-Lemli-Opitz syndrome in a patient with congenital adrenal hyperplasia].
    GarcíaFuentes E; icioso Recio MV ; del Castillo Acedo Del Olmo E ; atas Jurado MM ; Arana Agüera M ; López López J
    An Esp Pediatr; 2000 Nov; 53(5):482-7. PubMed ID: 11141372
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Direct analysis of sterols from dried plasma/blood spots by an atmospheric pressure thermal desorption chemical ionization mass spectrometry (APTDCI-MS) method for a rapid screening of Smith-Lemli-Opitz syndrome.
    Paglia G; D'Apolito O; Gelzo M; Dello Russo A; Corso G
    Analyst; 2010 Apr; 135(4):789-96. PubMed ID: 20349543
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Changes in serum sterols of rats treated with 7-dehydrocholesterol-delta 7-reductase inhibitors: comparison to levels in humans with Smith-Lemli-Opitz syndrome.
    Wolf C; Chevy F; Pham J; Kolf-Clauw M; Citadelle D; Mulliez N; Roux C
    J Lipid Res; 1996 Jun; 37(6):1325-33. PubMed ID: 8808767
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Identification of 19-nor-5,7,9(10)-cholestatrien-3 beta-ol in patients with Smith-Lemli-Opitz syndrome.
    Batta AK; Salen G; Tint GS; Shefer S
    J Lipid Res; 1995 Nov; 36(11):2413-8. PubMed ID: 8656079
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Smith-Lemli-Opitz syndrome with a classical phenotype, oesophageal achalasia and borderline plasma sterol concentrations.
    Haas D; Armbrust S; Haas JP; Zschocke J; Mühlmann K; Fusch C; Neumann LM
    J Inherit Metab Dis; 2005; 28(6):1191-6. PubMed ID: 16435228
    [TBL] [Abstract][Full Text] [Related]  

  • 13. LC-MS/MS-based quantification of cholesterol and related metabolites in dried blood for the screening of inborn errors of sterol metabolism.
    Becker S; Röhnike S; Empting S; Haas D; Mohnike K; Beblo S; Mütze U; Husain RA; Thiery J; Ceglarek U
    Anal Bioanal Chem; 2015 Jul; 407(17):5227-33. PubMed ID: 25963649
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [Historical aspects of the Smith-Lemli-Opitz syndrome].
    Bzdúch V; Behúlová D; Skodová J; Skokňová M; Kozák L
    Cas Lek Cesk; 2014; 153(1):36-9. PubMed ID: 24506692
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [Smith-Lemli-Opitz syndrome; a special defect in cholesterol metabolism].
    Aalfs CM; Hennekam RC; Wanders RJ; Jira PE; Pilon JW; Wijburg FA
    Ned Tijdschr Geneeskd; 1996 Jul; 140(28):1463-6. PubMed ID: 8766772
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Effects of dietary cholesterol on plasma lipoproteins in Smith-Lemli-Opitz syndrome.
    Merkens LS; Connor WE; Linck LM; Lin DS; Flavell DP; Steiner RD
    Pediatr Res; 2004 Nov; 56(5):726-32. PubMed ID: 15319461
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [Inborn error of cholesterol biosynthesis: Smith-Lemli-Opitz syndrome].
    Koczok K; V Oláh A; P Szabó G; Oláh É; Török O; Balogh I
    Orv Hetil; 2015 Oct; 156(42):1695-702. PubMed ID: 26551309
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Detection of defective 3 beta-hydroxysterol delta 7-reductase activity in cultured human fibroblasts: a method for the diagnosis of Smith-Lemli-Opitz syndrome.
    Lund E; Starck L; Venizelos N
    J Inherit Metab Dis; 1996; 19(1):59-64. PubMed ID: 8830178
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Sterols and oxysterols in plasma from Smith-Lemli-Opitz syndrome patients.
    Griffiths WJ; Abdel-Khalik J; Crick PJ; Ogundare M; Shackleton CH; Tuschl K; Kwok MK; Bigger BW; Morris AA; Honda A; Xu L; Porter NA; Björkhem I; Clayton PT; Wang Y
    J Steroid Biochem Mol Biol; 2017 May; 169():77-87. PubMed ID: 26976653
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Clinical and biochemical spectrum of patients with RSH/Smith-Lemli-Opitz syndrome and abnormal cholesterol metabolism.
    Cunniff C; Kratz LE; Moser A; Natowicz MR; Kelley RI
    Am J Med Genet; 1997 Jan; 68(3):263-9. PubMed ID: 9024557
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.