Bronnen

1. Azurdia R, Anstey A, Rhodes L. Cholesterol supplementation objectively reduces photosensitivity in the Smith-Lemli-Opitz syndrome. Br J Dermatol. 2001 Jan ;144(1) :143-5.
2. Bianconi SE, Cross JL, Wassif CA et al. Pathogenesis, Epidemiology, Diagnosis and Clinical Aspects of Smith-Lemli-Opitz Syndrome. Expert Opin Orphan Drugs. 2015 Mar; 3(3):267-280.
3. Bianconi SE Connely SK, Keil MF et al. Adrenal function in Smith-Lemli-Opitz syndrome. Am J Med Genet A. 2011; 155A:2732-38.
4. Braam W, Van Duinen-Maas MJ, Festen DAM, van GelderenI, et al. Medische zorg voor patiënten met een verstandelijke beperking: Prelum Uitgevers 2014.
5. Diaz‐Stransky A, Tierney E. Cognitive and behavioral aspects of Smith–Lemli–Opitz syndrome. Am J Med Genet Part C Semin Med Genet 2012;160C: 295–300.
6. Donoghue S, Pitt J, Boneh A, et al. Smith-Lemli-Opitz syndrome: clinical and biochemical correlates. J Pediatr Endocrinol Metab. 2018 Mar 28;31(4):451-459.
7. Van Eeghen AM, Huisman SA, van Goethem G, Boot E. Somatische comorbiditeit bij kinderen en volwassenen met een verstandelijke beperking en een psychiatrische aandoening. Overzichtsartikel. Tijdschrift voor Psychiatrie 61(2019)11, 773-778.
8. Ellingson MS,Wick MJ, White WM. Pregnancy in an Individual with Mild Smith-Lemli-Opitz Syndrome. Clin Genet. 2014;85(5):495-497.
9. Eroglu Y, Nguyen-Driver M, Steiner RD et al. Am J Med Genet A. 2017; 173(8):2079-2100.
10. Govindarajan SR, Khanna P, Bhalla AP et al. Smith-Lemli-Opitz syndrome: How difficult is the anaesthetic technique? Saudi J Anaesth. 2014 Jul-Sep; 8(3): 440-442.
11. Jira PE. The Smith-Lemli-Opitz syndrome, A malformation syndrome due to a defect in cholesterol biosynthesis. Proefschrift Katholieke Universiteit Nijmegen;2005.
12. Kelley RI, Hennekam RCM. The Smith-Lemli-Opitz syndrome, Review article. J.Med.Genet 2000;37(5):321-335.
13. Kim HYH, Korade Z, Tallman KA et al. Inhibitors of 7-Dehydrocholesterol Reductase: Screening of a Collection of Pharmacologically Active Compounds in Neuro2a Cells. Chem Res Toxicol. 2016 May 16;29(5): 892-900.
14. Lazarin GA, Kague IS, Evans EA et al. Smith-Lemli-Opitz syndrome carrier frequency and estimates of in utero mortality rates. Prenat Diagn. 2017 Apr; 37(4):350-355.
15. Lee RWJ, McGready J, Conley SK, et al. Growth charts for individuals with Smith–Lemli–Opitz syndrome. American Journal of Medical Genetics 2012;158A (11):2707-2713.
16. Matthews-Brzozowski A, Cudzilo D, Kopczynski P et al.Smith-Lemli-Opitz syndrome -  Climical consequences for dental care. Dev.Period Med.2013,17,3,253-256.
17. Nowaczyk MJM, Wassif CA. GeneReviews Smith-Lemli-Optz Syndrome, laatste update 2020.
18. Pizzo G, Piscopo MR, Pizzo I et al. Oral manifestations of Smith-Lemli-Opitz Syndrome: a paediatric case report. SUPPLEMENT TO EUROPEAN JOURNAL OF PAEDIATRIC DENTISTRY • VOL. 9/4-2008
19. Porter FD. Smith-Lemli-Opitz syndrome: pathogenesis, diagnosis and management. Eur J Hum Genet. 2008 May; 16(5):535-41.
20. Prosnitz A, Leopold J, Irons M et al. Pulmonary vein stenosis in patients with Smith-Lemli-Opitz syndrome. Congenit Heart Dis. 2017 Jul;12(4):475-483.
21. Tierney E, Conley S, Goodwin H, et al. Analysis of Short-term Behavioral Effects of Dietary Cholesterol Supplementation in Smith-Lemli-Opitz Syndrome. Am J Med Genet A.2010 Jan; 152A(1):91-95.
22. Wassif CA, Kratz L, Sparks SE et al. A placebo-controlled trial of simvastatin therapy in Smith-Lemli-Opitz syndrome. Genet. Med. 19: 297-305, 2017.

1. www.erfelijkheid.nl is de website van het Erfocentrum.
2. www.kinderneurologie.eu (laatste update 2008)
3. www.orphanet.nl
4. www.stofwisselingsziekten.nl dit is de website van VKS (Volwassenen en Kinderen met Stofwisselingsziekten): met Smith-Lemli-Opitz (3β-hydroxysterol- Δ7 reductase) versie mei 2017, geautoriseerd door P.E.Jira
5. www.vkgn.org dit is de website van de Vereniging Klinische Genetica Nedreland (VKGN).

Referaat AVG-opleiding en opleiding klinische genetica Erasmus MC, december 2017 over Smith-Lemli-Opitz Syndroom. Door: R.Senden, I.Tersteeg, W Kuijkhoven, J Doldersum.