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Genetic defects in postsqualene cholesterol biosynthesis.
Moebius FF, Fitzky BU, Glossmann H. Moebius FF, et al. Among authors: glossmann h. Trends Endocrinol Metab. 2000 Apr;11(3):106-14. doi: 10.1016/s1043-2760(00)00235-6. Trends Endocrinol Metab. 2000. PMID: 10707051 Review.
Molecular cloning and expression of the human delta7-sterol reductase.
Moebius FF, Fitzky BU, Lee JN, Paik YK, Glossmann H. Moebius FF, et al. Among authors: glossmann h. Proc Natl Acad Sci U S A. 1998 Feb 17;95(4):1899-902. doi: 10.1073/pnas.95.4.1899. Proc Natl Acad Sci U S A. 1998. PMID: 9465114 Free PMC article.
ErratumGenetic Defects in Postsqualene Cholesterol Biosynthesis.
Moebius FF, Fitzky BU, Glossmann H. Moebius FF, et al. Among authors: glossmann h. Trends Endocrinol Metab. 2000 May;11(4):150. doi: 10.1016/s1043-2760(00)00261-7. Trends Endocrinol Metab. 2000. PMID: 10754537 No abstract available.
7-Dehydrocholesterol-dependent proteolysis of HMG-CoA reductase suppresses sterol biosynthesis in a mouse model of Smith-Lemli-Opitz/RSH syndrome.
Fitzky BU, Moebius FF, Asaoka H, Waage-Baudet H, Xu L, Xu G, Maeda N, Kluckman K, Hiller S, Yu H, Batta AK, Shefer S, Chen T, Salen G, Sulik K, Simoni RD, Ness GC, Glossmann H, Patel SB, Tint GS. Fitzky BU, et al. Among authors: glossmann h. J Clin Invest. 2001 Sep;108(6):905-15. doi: 10.1172/JCI12103. J Clin Invest. 2001. PMID: 11560960 Free PMC article.
Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome.
Witsch-Baumgartner M, Fitzky BU, Ogorelkova M, Kraft HG, Moebius FF, Glossmann H, Seedorf U, Gillessen-Kaesbach G, Hoffmann GF, Clayton P, Kelley RI, Utermann G. Witsch-Baumgartner M, et al. Among authors: glossmann h. Am J Hum Genet. 2000 Feb;66(2):402-12. doi: 10.1086/302760. Am J Hum Genet. 2000. PMID: 10677299 Free PMC article.
208 results