Abbreviations



References

[1] Porter FD, Herman GE. Malformation syndromes caused by disorders of cholesterol

Quantitative Proteomic Analysis of Skeletal Muscle Detergent-Resistant Membranes in a Smith-Lemli-Opitz…

http://dx.doi.org/10.5772/intechopen.78037

139

[2] Cardoso M, Barbosa M, Serra D, Martins E, Fortuna A, Reis-Lima M, Bandeira A, Balreira A, Marques F. Living with inborn errors of cholesterol biosynthesis: Lessons from adult

[3] Smith DW, Lemli L, Opitz JA. A newly recognized syndrome of multiple congenital

[4] Irons M, Elias ER, Salen G, Tint GS, Batta AK. Defective cholesterol biosynthesis in Smith-

[5] Tint GS. Cholesterol defect in Smith-Lemli-Opitz syndrome. American Journal of Medical

[6] Fitzky BU, Witsch-Baumgartner M, Erdel M, Lee JN, Paik YK, Glossmann H, Utermann G, Moebius FF. Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome. Proceedings of the National Academy of Sciences of the United

[7] Wassif CA, Maslen C, Kachilele-Linjewile S, Lin D, Linck LM, Connor WE, Steiner RD, Porter FD. Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome. American Journal of Human Genetics. 1998;63(1):55-62

[8] Waterham HR, Wijburg FA, Hennekam RC, Vreken P, Poll-The BT, Dorland L, Duran M, Jira PE, Smeitink JA, Wevers RA, Wanders RJ. Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene. American Journal of Human

[9] Waterham HR, Hennekam RC. Mutational spectrum of Smith-Lemli-Opitz syndrome. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 2012;160C

[10] 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. 7-Dehydrocholesterol-dependent proteolysis of HMG-CoA reductase suppresses sterol biosynthesis in amouse model of Smith-Lemli-Opitz/

[11] Wassif CA, Zhu P, Kratz L, Krakowiak PA, Battaile KP, Weight FF, Grinberg A, Steiner RD, Nwokoro NA, Kelley RI, Stewart RR, Porter FD. Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith-Lemli-Opitz syn-

RSH syndrome. The Journal of Clinical Investigation. 2001;108(6):905-915

drome. Human Molecular Genetics. 2001;10(6):555-564

synthesis. Journal of Lipid Research. 2011;52(1):6-34

anomlies. The Journal of Pediatrics. 1964;64:210-217

Lemli-Opitz syndrome. Lancet. 1993;341(8857):1414

patients. Clinical Genetics. 2014;85(2):184-188

Genetics. 1993;47(4):573-574

Genetics. 1998;63(2):329-338

(4):263-284

States of America. 1998;95(14):8181-8186
