Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome

A newly recognized syndromeof multiple congenital anomalies

Smith, D. W., Lemli, L., & Opitz, J. M. (1964) · The Journal of Pediatrics · doi:10.1016/s0022-3476(64)80264-x · Cited by 650

Preputial Gland Tumor Sterols

Kandutsch, A. A., & Russell, A. E. (1960) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)64608-3 · Cited by 217

Occurrence of isomeric dehydrocholesterols in human plasma.

Axelson, M. (1991) · Journal of Lipid Research · doi:10.1016/s0022-2275(20)41911-x · Cited by 53

Smith‐Lemli‐Opitz Syndrome: Neuropathological and Ophthalmological Observations

Fierro, M. F., Martinez, A. J., Harbison, J. W., & Hay, S. H. (1977) · Developmental Medicine & Child Neurology · doi:10.1111/j.1469-8749.1977.tb08021.x · Cited by 50

Rapid identification of smith-lemlip-opitz syndrome homozygotes and heterozygotes (carriers) by measurement of deficient 7-dehydrocholesterol-Δ7-reductase activity in fibroblasts

Shefer, S., Salen, G., Honda, A., BATTA, A. K., Hauser, S., Tint, G. S., Honda, M., Chen, T. C., Holick, M. F., & Nguyen, L. B. (1997) · Metabolism · doi:10.1016/s0026-0495(97)90133-5 · Cited by 20

Elevated serum squalene and cholesterol synthesis markers in pregnant obese women with gestational diabetes mellitus

Miettinen, H. E., Rönö, K., Koivusalo, S. B., Stach‐Lempinen, B., Pöyhönen‐Alho, M., Eriksson, J. G., Hiltunen, T. P., & Gylling, H. K. (2014) · Journal of Lipid Research · doi:10.1194/jlr.p049510 · Cited by 19

RETIRED: No. 261-Prenatal Screening for Fetal Aneuploidy in Singleton Pregnancies

Chitayat, D. A., Langlois, S. F., & Wilson, R. D. (2017) · Journal of Obstetrics and Gynaecology Canada · doi:10.1016/j.jogc.2017.06.013 · Cited by 19

Cone ERG responses in patients with Smith-Lemli-Opitz Syndrome (SLOS)

Garry, D., Hansen, R. M., Moskowitz, A., Elias, E. R., Irons, M., & Fulton, A. B. (2010) · Documenta Ophthalmologica · doi:10.1007/s10633-010-9232-3 · Cited by 19

Feedback inhibition of the cholesterol biosynthetic pathway in patients with Smith-Lemli-Opitz syndrome as demonstrated by urinary mevalonate excretion

Pappu, A. S., Steiner, R. D., Connor, S. L., Flavell, D. P., Lin, D. S., Hatcher, L. F., Illingworth, D. R., & Connor, W. E. (2002) · Journal of Lipid Research · doi:10.1194/jlr.m200163-jlr200 · Cited by 19

Beneficial effects of dietary supplementation in a disorder with defective synthesis of cholesterol. A case report of a girl with Smith-Lemli-Opitz syndrome, polyneuropathy and precocious puberty

Starck, I. B. L., Björkhem, I., Ritzén, E., Nilsson, B., & von Döbeln, U. (1999) · Acta Paediatrica · doi:10.1080/08035259950169008 · Cited by 19

Mutational Spectrum of Smith-Lemli-Opitz Syndrome Patients in Hungary

Balogh, I., Koczok, K., Szabó, G., Török, O., Hadzsiev, K., Csábí, G., Balogh, L., Dzsudzsák, E., Ajzner, É., Szabó, L., et al. (2012) · Molecular Syndromology · doi:10.1159/000343923 · Cited by 18

Inability to fully suppress sterol synthesis rates with exogenous sterol in embryonic and extraembyronic fetal tissues

Yao, L., Jenkins, K. T., Horn, P. S., Lichtenberg, M. H., & Woollett, L. A. (2007) · Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids · doi:10.1016/j.bbalip.2007.09.002 · Cited by 18

Enhanced placental cholesterol efflux by fetal HDL in Smith–Lemli–Opitz syndrome

Jenkins, K. T., Merkens, L. S., Tubb, M. R., Myatt, L., Davidson, W. S., Steiner, R. D., & Woollett, L. A. (2008) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2008.01.015 · Cited by 18

Retinal Structure and Function in an Animal Model that Replicates the Biochemical Hallmarks of Desmosterolosis

Fliesler, S. J., Richards, M. J., Miller, C. ‐., Peachey, N. S., & Cenedella, R. J. (2000) · Neurochemical Research · doi:10.1023/a:1007519321917 · Cited by 18

Founder effect for the T93MDHCR7mutation in Smith‐Lemli‐Opitz syndrome

Nowaczyk, M. J. M., Martín-García, D., Perna, A. A. A., Rodríguez-Vázquez, M., McCaughey, D., Eng, B., Nakamura, L. N., & Waye, J. S. (2003) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.20676 · Cited by 18

Prenatal death in Smith-Lemli-Opitz/RSH syndrome

Putnam, A. R., Szakacs, J. G., Opitz, J. M., & Byrne, J. L. B. (2005) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.30246 · Cited by 17

Prevalence of sleep problems in Smith‐Lemli‐Opitz syndrome

Żarowski, M., Vendrame, M., Irons, M., & Kothare, S. V. (2011) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.34021 · Cited by 17

Decreased cerebral spinal fluid neurotransmitter levels in Smith‐Lemli‐Opitz syndrome

Sparks, S. E., Wassif, C. A., Goodwin, H., Conley, S. K., Lanham, D. C., Kratz, L. E., Hyland, Κ., Gropman, A. L., Tierney, E., & Porter, F. D. (2014) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-013-9672-5 · Cited by 17

Smith‐Lemli‐Opitz syndrome: Biochemical before clinical diagnosis; early dietary management

Nwokoro, N. A., Hyde, B., & Mulvihill, J. J. (1994) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320500415 · Cited by 17

Detection of defective 3β‐hydroxysterol Δ7‐reductase activity in cultured human fibroblasts: a method for the diagnosis of Smith‐Lemli‐Opitz syndrome

Lund, E. G., Starck, L., & Venizelos, N. (1995) · Journal of Inherited Metabolic Disease · doi:10.1007/bf01799349 · Cited by 17

Modulation of nitric oxide concentration and lipid metabolism by 15-deoxy Delta12,14prostaglandin J2 in embryos from control and diabetic rats during early organogenesis

Jawerbaum, A., Sinner, D. I., White, V., Pustovrh, M. C., Capobianco, E., & Gonzalez, E. (2002) · Reproduction · doi:10.1530/rep.0.1240625 · Cited by 17

Sterol Regulation of Voltage-Gated K+ Channels

Balajthy, A., Hajdú, P., Panyi, G., & Varga, Z. (2017) · Current topics in membranes · doi:10.1016/bs.ctm.2017.05.006 · Cited by 18

Vitamin D levels in Smith‐Lemli‐Opitz syndrome

Movassaghi, M., Bianconi, S. E., Feinn, R., Wassif, C. A., & Porter, F. D. (2017) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.38361 · Cited by 16

7DHC-induced changes of Kv1.3 operation contributes to modified T cell function in Smith-Lemli-Opitz syndrome

Balajthy, A., Somodi, S., Pethő, Z., Péter, M., Varga, Z., Szabó, G. P., Paragh, G., Vígh, L., Panyi, G., & Hajdú, P. (2016) · Pflügers Archiv - European Journal of Physiology · doi:10.1007/s00424-016-1851-4 · Cited by 17

Effect of YM 9429, a potent teratogen, on cholesterol biosynthesis in cultured cells and rat liver microsomes

Honda, A., Tint, G. S., Shefer, S., BATTA, A. K., Honda, M., & Salen, G. (1996) · Steroids · doi:10.1016/s0039-128x(96)00088-8 · Cited by 16

Biomarkers of teratogenesis: Suggestions from animal studies

Giavini, E., & Menegola, E. (2012) · Reproductive Toxicology · doi:10.1016/j.reprotox.2012.05.003 · Cited by 16

Electrophilic oxysterols: generation, measurement and protein modification

Miyamoto, S., Lima, R. S., Inague, A., & Viviani, L. G. (2021) · Free Radical Research · doi:10.1080/10715762.2021.1879387 · Cited by 16

Cholesterol: Biosynthesis, Functional Diversity, Homeostasis and Regulation by Natural Products

Thomas, J., Shentu, T., & K., D. (2012) · InTech eBooks · doi:10.5772/32538 · Cited by 15

Intestinal Absorption of Cholesterol by Patients with Smith-Lemli-Opitz Syndrome

Lin, D. S., Steiner, R. D., Flavell, D. P., & Connor, W. E. (2005) · Pediatric Research · doi:10.1203/01.pdr.0000157723.98422.b5 · Cited by 15

Regulation of cholesterol biosynthetic pathway in patients with the Smith–Lemli–Opitz syndrome

Honda, M., Tint, G. S., Honda, A., Salen, G., Shefer, S., Batta, A. K., Matsuzaki, Y., & Tanaka, N. (2000) · Journal of Inherited Metabolic Disease · doi:10.1023/a:1005660130109 · Cited by 15

Prenatal diagnosis of Smith–Lemli–Opitz syndrome

Irons, M., & Tint, G. S. (1998) · Prenatal Diagnosis · doi:10.1002/(sici)1097-0223(199804)18:4 · Cited by 15

Late endosomal/lysosomal accumulation of a neurotransmitter receptor in a cellular model of Smith‐Lemli‐Opitz syndrome

Sharma, A., Kumar, G. A., & Chattopadhyay, A. (2021) · Traffic · doi:10.1111/tra.12811 · Cited by 14

The Mevalonate Pathway in Alzheimer’s Disease — Cholesterol and Non-Sterol Isoprenoids

Mohamed, A., Smith, K. T., & Chaves, E. (2015) · InTech eBooks · doi:10.5772/59904 · Cited by 17

Decreased cholesterol synthesis as a possible aetiological factor in malformations of Trisomy 18

Lam, W. W. K., Kirk, J. M., Manning, N. J., Reardon, W., Kelley, R. I., & FitzPatrick, D. R. (2005) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2005.05.011 · Cited by 14

Novel mutation in the Δ‐sterol reductase gene in three Lebanese sibs with Smith‐Lemli‐Opitz (RSH) syndrome

Nezarati, M. M., Loeffler, J., Yoon, G., MacLaren, L., Fung, E., Snyder, F. F., Utermann, G., & Graham, G. E. (2002) · American Journal of Medical Genetics · doi:10.1002/ajmg.10367 · Cited by 14

Abnormal cholesterol biosynthesis as in Smith-Lemliopitz syndrome disrupts normal skeletal development in the rat

Kolf‐Clauw, M., Chevy, F., & Ponsart, C. (1998) · Journal of Laboratory and Clinical Medicine · doi:10.1016/s0022-2143(98)90093-2 · Cited by 14

Smith-Lemli-Opitz syndrome: Clinical, biochemical, and genetic insights with emerging treatment opportunities

Kritzer, A., Dutta, R., Pramparo, T., Terner-Rosenthal, J., Vig, P., & Steiner, R. D. (2025) · Genetics in Medicine · doi:10.1016/j.gim.2025.101450 · Cited by 13

Trisomy 8 mosaicism in a with patient tetraamelia

G�tze, A., Krebs, P., Stümm, M., Wieacker, P. F., & Allhoff, E. P. (1999) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19991029)86:5 · Cited by 2

Corpus Callosum Measurements Correlate With Developmental Delay in Smith-Lemli-Opitz Syndrome

Lee, R. W. Y., Yoshida, S., Jung, E. S., Mori, S., Baker, E. H., & Porter, F. D. (2013) · Pediatric Neurology · doi:10.1016/j.pediatrneurol.2013.03.015 · Cited by 13

A Simple PCR-Based Assay Allows Detection of a Common Mutation, IVS8-1G→C, in DHCR7 in Smith-Lemli-Opitz Syndrome

Battaile, K. P., Maslen, C. L., Wassif, C. A., Krakowiak, P. A., Porter, F. D., & Steiner, R. D. (1999) · Genetic Testing · doi:10.1089/gte.1999.3.361 · Cited by 13

Accurate detection of Smith–Lemli–Opitz syndrome carriers by measurement of the rate of reduction of the ergosterol C‐7 double bond in cultured skin fibroblasts

Honda, M., Tint, G. S., Shefer, S., Honda, A., Batta, A. K., Xu, G., Chen, T. S., & Salen, G. (1998) · Journal of Inherited Metabolic Disease · doi:10.1023/a:1005401317306 · Cited by 13

Cholic acid increases plasma cholesterol in Smith-Lemli-Opitz syndrome: A pilot study

Elias, E. R., Orth, L. E., Li, A., Xu, L., Jones, S. M., & Rizzo, W. B. (2023) · Molecular Genetics and Metabolism Reports · doi:10.1016/j.ymgmr.2023.101030 · Cited by 12

Biochemical Abnormality Associated with Smith-Lemli-Opitz Syndrome in an Infant with Features of Rutledge Multiple Congenital Anomaly Syndrome Confirms that the Latter is a Variant of the Former

Rakheja, D., Wilson, G. N., & Rogers, B. B. (2003) · Pediatric and Developmental Pathology · doi:10.1007/s10024-002-1116-4 · Cited by 12

Biochemical and physiological improvement in a mouse model of Smith–Lemli–Opitz syndrome (SLOS) following gene transfer with AAV vectors

Ying, L., Matabosch, X., Serra, M., Watson, B., Shackleton, C. H. L., & Watson, G. L. (2014) · Molecular Genetics and Metabolism Reports · doi:10.1016/j.ymgmr.2014.02.002 · Cited by 12

Molecular studies in Portuguese patients with Smith–Lemli–Opitz syndrome and report of three new mutations in DHCR7

Cardoso, M. L., Balreira, A., Martins, E., Nunes, L., Cabral, A., Marques, M. E., Lima, M. R., Marques, J. S., Medeira, A., Cordeiro, I., et al. (2005) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2005.02.009 · Cited by 12

Autismus und Stoffwechselerkrankungen - was ist gesichert?

Hahn, A., & Neubauer, B. A. (2005) · Zeitschrift für Kinder- und Jugendpsychiatrie und Psychotherapie · doi:10.1024/1422-4917.33.4.259 · Cited by 12

Differential effects of polyunsaturated fatty acids on sterol synthesis rates in adult and fetal tissues of the hamster: consequence of altered sterol balance

Schmid, K. E., & Woollett, L. A. (2003) · American Journal of Physiology-Gastrointestinal and Liver Physiology · doi:10.1152/ajpgi.00226.2003 · Cited by 12

Craniofacial developmental abnormalities

Elmsie, F. V., & Reardon, W. (1998) · Current Opinion in Neurology · doi:10.1097/00019052-199804000-00004 · Cited by 11

Germline PTEN mutation in a family with Cowden syndrome and Bannayan‐Riley‐Ruvalcaba Syndrome

Zori, R. T., Marsh, D. J., Graham, G. E., Marliss, E. B., & Eng, C. (1998) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19981204)80:4 · Cited by 111

Carrier frequency and incidence estimation of Smith–Lemli–Opitz syndrome in East Asian populations by Genome Aggregation Database (gnomAD) based analysis

Park, J. E., Lee, T., Ha, K., & Ki, C. (2021) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-021-01789-2 · Cited by 11

Auditory phenotype of Smith–Lemli–Opitz syndrome

Zalewski, C. K., Sydlowski, S. A., King, K. A., Bianconi, S. E., Do, A. N. D., Porter, F. D., & Brewer, C. C. (2021) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.62087 · Cited by 11

Smith-Lemli-Opitz syndrome: A pathophysiological manifestation of the Bloch hypothesis

Chattopadhyay, A., & Sharma, A. (2023) · Frontiers in Molecular Biosciences · doi:10.3389/fmolb.2023.1120373 · Cited by 12

A Severely Affected Female Infant with X-Linked Dominant Chondrodysplasia Punctata: A Case Report and a Brief Review of the Literature

Rakheja, D., Read, C. P., Hull, D., Boriack, R. L., & Timmons, C. F. (2007) · Pediatric and Developmental Pathology · doi:10.2350/06-06-0111.1 · Cited by 11

Aberrant pathways in the late stages of cholesterol biosynthesis in the rat: origin and metabolic fate of unsaturated sterols relevant to the Smith-Lemli-Opitz syndrome

Ruan, B. H., Tsai, J., Wilson, W. K., & Schroepfer, G. J. (2000) · Journal of Lipid Research · doi:10.1016/s0022-2275(20)31970-2 · Cited by 11

Neuroimaging of lipid storage disorders

Rieger, D., Auerbach, S. A., Robinson, P., & Gropman, A. L. (2013) · Developmental Disabilities Research Reviews · doi:10.1002/ddrr.1120 · Cited by 10

Brain cholesterol and suicidal behaviour

Lütjohann, D. (2006) · The International Journal of Neuropsychopharmacology · doi:10.1017/s1461145706007048 · Cited by 10

Malformation syndromes due to inborn errors of cholesterol synthesis

Porter, F. D. (2002) · Journal of Clinical Investigation · doi:10.1172/jci200216386 · Cited by 10

Regulation of the Last Two Enzymatic Reactions in Cholesterol Biosynthesis in Rats: Effects of Bm 15.766, Cholesterol, Cholic Acid, Lovastatin, and Their Combinations

Honda, A., Shefer, S., Salen, G., Xu, G., Batta, A. K., Tint, G. S., Honda, M., Chen, T. C., & Holick, M. F. (1996) · Hepatology · doi:10.1002/hep.510240223 · Cited by 10

Smith-Lemli-Opitz syndrome and other sterol disorders among Finns with developmental disabilities

Nissinen, M. J., Gylling, H., Kaski, M., Tammisto, P., Mieskonen, S., Ignatius, J., & Miettinen, T. A. (2000) · Journal of Laboratory and Clinical Medicine · doi:10.1067/mlc.2000.110607 · Cited by 10

PRENATAL CYTOGENETIC RESULTS FROM CASES REFERRED FOR 44 DIFFERENT TYPES OF ABNORMAL ULTRASOUND FINDINGS

Hanna, J. S., Neu, R. L., & Lockwood, D. (1996) · Prenatal Diagnosis · doi:10.1002/(sici)1097-0223(199602)16:2 · Cited by 28

Smith–Lemli–Opitz syndrome among Arabs

Al-Owain, M., Imtiaz, F., Shuaib, T., Edrees, A., Al‐Amoudi, M., Sakati, N., Al‐Hassnan, Z. N., Bamashmous, H., Rahbeeni, Z. A., Alameer, S., et al. (2011) · Clinical Genetics · doi:10.1111/j.1399-0004.2011.01742.x · Cited by 10

Severe Smith‐Lemli‐Opitz syndrome with prolonged survival and lipid abnormalities

Pierquin, G., Peeters, P., Roels, F., Vamos, E., Brucher, J., Tint, G. S., Honda, A., & Regemorter, N. V. (1995) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320560308 · Cited by 10

Photomedicine: lessons from the Smith–Lemli–Opitz syndrome

Anstey, A. V. (2001) · Journal of Photochemistry and Photobiology B Biology · doi:10.1016/s1011-1344(01)00171-3 · Cited by 9

Synthesis of [3α-3H]7-dehydrocholesterol via stable tritiated 4-phenyl-1,2,4-triazoline-3,5-dione derivative

BATTA, A. K., Salen, G., Tint, G. S., Honda, A., & Shefer, S. (1997) · Steroids · doi:10.1016/s0039-128x(97)00070-6 · Cited by 9

DHCR7 mutations in Brazilian Smith-Lemli-Opitz syndrome patients

Scalco, F. B., Correa-Cerro, L. S., Wassif, C. A., Porter, F. D., & Moretti‐Ferreira, D. (2005) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.30810 · Cited by 9

Blocking cholesterol synthesis impairs acquisition of the classically conditioned eyeblink response

O'Brien, W., Xu, G., Tint, G. S., Salen, G., & Servatius, R. J. (2000) · Integrative Psychological and Behavioral Science · doi:10.1007/bf02688771 · Cited by 9

Lipid metabolism in the embryos of diabetic rats during early organogenesis: modulatory effect of prostaglandin E2

Sinner, D. I., Caviglia, J. M., Jawerbaum, A., Igal, R. A., & Gonzalez, E. T. (2003) · Reproduction Fertility and Development · doi:10.1071/rd02068 · Cited by 9

Lipid- and protein-directed photosensitizer proximity labeling captures the cholesterol interactomePreprint

Becker, A. P., Biletch, E., Kennelly, J. P., Julio, A. R., Villaneuva, M., Nagari, R. T., Turner, D. W., Burton, N. R., Fukuta, T., Cui, L., et al. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.08.20.608660 · Cited by 9

Vitamin D3 suppresses the cholesterol homeostasis pathway in patient‐derived glioma cell lines

Yuan, R., Zhang, W., You, Y., Cui, G., Gao, Z., Wang, X., & Chen, J. (2023) · FEBS Open Bio · doi:10.1002/2211-5463.13679 · Cited by 8

Biochemical and Clinical Effects of Vitamin E Supplementation in Hungarian Smith-Lemli-Opitz Syndrome Patients

Koczok, K., Horváth, L., Korade, Ž., Mezei, Z. A., Szabó, G. P., Porter, N. A., Kovács, E., Mirnics, K., & Balogh, I. (2021) · Biomolecules · doi:10.3390/biom11081228 · Cited by 8

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, H. J., Huang, Z., et al. (2021) · Journal of Separation Science · doi:10.1002/jssc.202100594 · Cited by 8

The liver plays a key role in whole body sterol accretion of the neonatal Golden Syrian hamster

YAO, L., Horn, P. S., Heubi, J. E., & Woollett, L. A. (2007) · Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids · doi:10.1016/j.bbalip.2007.01.017 · Cited by 8

Voltammetry of 7-dehydrocholesterol as a new and useful tool for Smith-Lemli-Opitz syndrome diagnosis

Klouda, J., Benešová, L., Kočovský, P., & Schwarzová‐Pecková, K. (2021) · Talanta · doi:10.1016/j.talanta.2021.122260 · Cited by 7

Cholesterol regulates insulin-induced mTORC1 signaling

Navyasree, K. V., Ramesh, S. T., & Umasankar, P. K. (2023) · Journal of Cell Science · doi:10.1242/jcs.261402 · Cited by 9

Delivery of the 7-dehydrocholesterol reductase gene to the central nervous system using adeno-associated virus vector in a mouse model of Smith-Lemli-Opitz Syndrome

Pasta, S. Y., Akhile, O., Tabron, D., Ting, F., Shackleton, C. H. L., & Watson, G. L. (2015) · Molecular Genetics and Metabolism Reports · doi:10.1016/j.ymgmr.2015.07.006 · Cited by 7

Smith‐Lemli‐Opitz syndrome: Deficient Δ7‐reductase activity in cultured skin fibroblasts and chorionic villus fibroblasts and its application to pre‐ and postnatal detection

Wanders, R. J. A., Romeijn, G. J., Wijburg, F. A., Hennekam, R. C. M., de Jong, J. G. N., Wevers, R. A., & Dacremont, G. (1997) · Journal of Inherited Metabolic Disease · doi:10.1023/a:1005371104822 · Cited by 7

Abnormal cholesterol biosynthesis in sitosterolaemia and the Smith‐Lemli‐Opitz syndrome

Salen, G., Shefer, S., Batta, A. K., Tint, G. S., Xu, G., & Honda, A. (1996) · Journal of Inherited Metabolic Disease · doi:10.1007/bf01799100 · Cited by 7

Yolk sac cholesteryl ester secretion rates can be manipulated in the Golden Syrian hamster: Effect of yolk sac cholesterol concentrations

Lichtenberg, M. H., Wilke, C., McConihay, J. A., Granholm, N. A., & Woollett, L. A. (2005) · Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids · doi:10.1016/j.bbalip.2005.05.009 · Cited by 7

Smith‐Lemli‐Opitz syndrome: a review, case report and dental implications

Muzzin, K. B., & Mallonee, L. F. (2003) · Special Care in Dentistry · doi:10.1111/j.1754-4505.2003.tb00285.x · Cited by 7

Retinal Degeneration and Cholesterol Deficiency

Fliesler, S. J. (2014) · Elsevier eBooks · doi:10.1016/b978-0-12-401717-7.00029-0 · Cited by 6

Causes of Congenital Malformations

Lammens, M. M. Y., van Vugt, J. M. G., Willemsen, M. A. A. P., van der Voorn, P. J., van Bokhoven, H., & ten Donkelaar, H. J. (2014) · Springer eBooks · doi:10.1007/978-3-642-54687-7_3 · Cited by 6

Enhanced lymphocyte proliferation in patients with adrenoleukodystrophy treated with erucic acid (22:1)‐rich triglycerides

Pour, R. H., Stöckler‐Ipsiroglu, S., HUNNEMAN, D. H., Gahr, M. L., Korenke, G. C., Pabst, W., Hanefeld, F. A., & Peters, A. M. J. (2000) · Journal of Inherited Metabolic Disease · doi:10.1023/a:1005657530372 · Cited by 6

Identification of a Novel DHCR7 Mutation in a Korean Patient With Smith-Lemli-Opitz Syndrome

Chae, J., Kim, K. J., Hwang, Y. S., Ki, C., & Kim, J. (2007) · Journal of Child Neurology · doi:10.1177/0883073807307099 · Cited by 6

Hydrolethalus syndrome, in contrast to Smith–Lemli–Opitz syndrome, is not due to a defect in post‐squalene cholesterol biosynthesis: A case report

Rakheja, D., Cimo, M. L., Ramus, R. M., Rogers, B. B., Bennett, M. J., Boyer, P. J., & Galindo, R. L. (2004) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.30190 · Cited by 6

Fetal Therapy for Single Gene Disorders

brien, B. O., & Bianchi, D. W. (2005) · Clinical Obstetrics & Gynecology · doi:10.1097/01.grf.0000184778.25663.ec · Cited by 6

Preclinical Animal Models of Autistic Spectrum Disorders (ASD)

Bartz, J. A., Young, L. J., Hollander, E., Buxbaum, J. D., & Ring, R. H. (2008) · Elsevier eBooks · doi:10.1016/b978-0-12-373861-5.00011-4 · Cited by 6

CHILD syndrome caused by deficiency of 3?-hydroxysteroid-?8, ?7-isomerase

Grange, D. K., Kratz, L. E., Braverman, N., & Kelley, R. I. (2000) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(20000214)90:4 · Cited by 113

The RSH/“Smith–Lemli–Opitz” Syndrome: Historical footnote

Opitz, J. M., & Furtado, L. V. (2012) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.31341 · Cited by 5

Smith-Lemli-Opitz syndrome: clinical and biochemical findings in Brazilian patients

Scalco, F. B., Otto, P. A., Brunetti, I. L., Cruzes, V. M., & Moretti‐Ferreira, D. (2006) · Genetics and Molecular Biology · doi:10.1590/s1415-47572006000300003 · Cited by 5

The interplay of genetic and environmental factors in craniofacial morphogenesis: holoprosencephaly and the role of cholesterol

Edison, R. J., & Muenke, M. (2003) · Clinical Genetics · doi:10.1111/j.1399-0004.2003.tb02302.x · Cited by 5

Photosensitivity in the Smith‐Lemli‐Opitz syndrome

Anstey, A. V. (1999) · Photodermatology Photoimmunology & Photomedicine · doi:10.1111/j.1600-0781.1999.tb00091.x · Cited by 5

Disorders of sterol biosynthesis

Furtado, L. V., Kelley, R. I., & Opitz, J. M. (2016) · Translational Science of Rare Diseases · doi:10.3233/trd-160004 · Cited by 5

Lipid Metabolism in the Human Fetus Development

Guardamagna, O., & Cagliero, P. (2016) · Springer eBooks · doi:10.1007/978-3-319-14874-8_12 · Cited by 4

Insuficiência Adrenal Primária de Causa Genética

Elias, L. L. K., & de Castro, M. (2002) · Arquivos Brasileiros de Endocrinologia & Metabologia · doi:10.1590/s0004-27302002000400018 · Cited by 5

Smith–Lemli–Opitz syndrome and other disorders of cholesterol biosynthesis: An introduction

Nowaczyk, M. J. M., & Cunniff, C. M. (2012) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.31344 · Cited by 4

High frequency of p.Thr93Met in Smith‐Lemli‐Opitz syndrome patients in Turkey

Kalb, S. R., Çağlayan, A. O., Değerli̇yurt, A., Schmid, S. W., Ceylaner, S., Hatipoğlu, N., Hinderhofer, K., Rehder, H., Kurtoğlu, S., Ceylaner, G., et al. (2011) · Clinical Genetics · doi:10.1111/j.1399-0004.2011.01750.x · Cited by 4

DHCR7 mutations causing the Smith—Lemli—Opitz syndrome

Witsch‐Baumgartner, M. (2008) · Future Lipidology · doi:10.2217/17460875.3.5.585 · Cited by 4

Smith‐Lemli‐Opitz Syndrome

Cunniff, C. M. (2010) · Wiley eBooks · doi:10.1002/9780470893159.ch49 · Cited by 4

In-depth analysis reveals complex molecular etiology of idiopathic cerebral palsyPreprint

Li, N., Zhou, P., Tang, H., He, L., Fang, X., Zhao, J., Wang, X., Qi, Y., Sun, C., Lin, Y., et al. (2020) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2020.08.17.255158 · Cited by 4

MALDI-IM-MS Imaging of Brain Sterols and Lipids in a Mouse Model of Smith-Lemli-Opitz SyndromePreprint

Li, A., & Xu, L. (2023) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2023.10.02.560415 · Cited by 4

The role of cholesterol biosynthesis and metabolism causing medical complexity in patients with Smith-Lemli-Opitz Syndrome (SLOS)

Elias, E. R. (2025) · The Journal of Steroid Biochemistry and Molecular Biology · doi:10.1016/j.jsbmb.2025.106822 · Cited by 3

Molecular screening of Smith–Lemli–Opitz syndrome in pregnant women from the Czech Republic

Blaháková, I., Makaturová, E., Kotrbova, L., Soukupova, M., Laštůvková, J., & Kozák, L. (2007) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-007-0710-z · Cited by 3

A case of Smith-Lemli-Opitz syndrome diagnosed by identification of mutations in the 7-dehydrocholesterol reductase (DHCR7) gene

Park, M. R., Ko, J. M., Cheon, C.-K., Kim, G.-H., & Yoo, H. (2008) · Korean Journal of Pediatrics · doi:10.3345/kjp.2008.51.11.1236 · Cited by 3

Sitosterolemia and Other Rare Sterol Disorders

Patel, S. B. (2015) · Contemporary Endocrinology · doi:10.1007/978-1-60761-424-1_13 · Cited by 3

Confirmation of defective cholesterol biosynthesis in 2 previously described adult sibs with Smith-Lemli-Opitz syndrome.

de Die-Smulders, C. E. M., van der Meer, S. B., Spaapen, L. J. M., & Fryns, J. (1996) · PubMed · Cited by 1

[Smith-Lemli-Opitz syndrome: abnormal cholesterol biosynthesis].

Verdú, M. D. L. T., López, M. V., Marina, L. C., Girós, M., Roy, S. Q., & Sierra, A. A. (1997) · PubMed · Cited by 2

[New possibilities for children with Smith-Lemli-Opitz syndrome. A cholesterol synthesis defect discovered].

Starck, L., Björkhem, I., Lund, E. G., & von Döbeln, U. (1995) · PubMed

\nThe Smith-Lemli-Opitz syndrome. A multiple malformation syndrome due to a defect in cholesterol biosynthesis.

Jira, P. E. (2005) · Radboud Repository (Radboud University)

Cholesterol defect in Smith‐Lemli‐Opitz syndrome

Tint, G. S. (1993) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320470429 · Cited by 31