Results 21 to 30 of about 4,480 (201)

The Smith-Lemli-Opitz syndrome [PDF]

Journal of Medical Genetics, 2000
The Smith-Lemli-Opitz syndrome (SLOS) is one of the archetypical multiple congenital malformation syndromes. The recent discovery of the biochemical cause of SLOS and the subsequent redefinition of SLOS as an inborn error of cholesterol metabolism have led to important new treatment possibilities for affected patients.
Kelley, R.I., Hennekam, R.C.M.
openaire   +3 more sources

Smith-Lemli-Opitz-syndrome

Indian Journal of Human Genetics, 2012
Smith-Lemli-Opitz syndrome is an autosomal recessively inherited disorder. A severe defect in cholesterol biosynthesis has been identified leading to abnormally low plasma cholesterol levels and elevated levels of the cholesterol precursor 7-dehydrocholesterol, the result of deficiency of 7-dehydrocholesterol reductase.
Gedam, Rachana, Shah, Ira, Ali, Uma, Ohri, Alpana   +3 more
openaire   +4 more sources

SMITH-LEMLI-OPITZ SYNDROME. CASE REPORT [PDF]

Romanian Journal of Pediatrics, 2015
Smith-Lemli-Opitz syndrome (SLOS) is an autosomal-recessive inherited disease characterized by multiple anomalies secondary to cholesterol synthesis impairment.
Sorin Ioan Iurian, Livia Ognean, Han Brunner, Leo Kluijtmans, Petr Jira, Dana Fintina, Bogdan Ionut Mehedintu   +6 more
doaj   +1 more source

A novel syndrome associated with prenatal fentanyl exposure

Genetics in Medicine Open, 2023
A novel syndrome was suspected in individuals sharing short stature, microcephaly, distinctive facial features, and congenital anomalies. We enrolled 6 patients in an institutional review board approved study and evaluated medical history, findings ...
Erin Wadman, Erica Fernandes, Candace Muss, Nina Powell-Hamilton, Monica H. Wojcik, Jill A. Madden, Chrystalle Katte Carreon, Robin D. Clark, Annie Stenftenagel, Kamal Chikalard, Virginia Kimonis, William Brucker, Carolina Alves, Karen W. Gripp   +13 more
doaj   +1 more source

Sterol profiles in plasma and erythrocyte membranes in patients with Smith-Lemli-Opitz syndrome: a six-year experience [PDF]

, 2011
Background: This study reports our experience over the last six years in the diagnosis of Smith-Lemli-Opitz syndrome and other inborn errors of cholesterol biosynthesis.
A. Nappi, DELLO RUSSO, ANTONIO, G. Corso, GELZO, MONICA, P. Pianese, R. Barone, S. Clericuzio   +6 more
core   +1 more source

Atrioventricular canal defect and genetic syndromes: the unifying role of sonic hedgehog [PDF]

, 2019
The atrioventricular canal defect (AVCD) is a congenital heart defect (CHD) frequently associated with extracardiac anomalies (75%). Previous observations from a personal series of patients with AVCD and "polydactyly syndromes" showed that the distinct ...
Baban, A, Calcagni, G, Dallapiccola, B, De Luca, A, Dentici, M L, Digilio, M C, Marino, B, Pugnaloni, F, Tartaglia, M, Versacci, P   +9 more
core   +1 more source

Stability study of dehydrocholesterols in dried spot of blood from patients with Smith–Lemli–Opitz syndrome, using filter-paper treated with butylated hydroxytoluene [PDF]

, 2012
Considering the clinical importance of implementing a screening method for cholesterol and dehydrocholesterols in dried blood spot, this study aims to standardize the preanalytical variability of DHC in DBS for detecting SLOS by using filter paper ...
DELLO RUSSO, ANTONIO, G. Corso, GELZO, MONICA   +2 more
core   +1 more source

Autism as a disorder of neural information processing: directions for research and targets for therapy [PDF]

, 2004
The broad variation in phenotypes and severities within autism spectrum disorders suggests the involvement of multiple predisposing factors, interacting in complex ways with normal developmental courses and gradients. Identification of these factors, and
A Klin, A Klin, A Peters, A Pickles, A Shah, A Shah, AL Beaudet, AM Comi, AM Connolly, AY Hardan, BF Sparks, BK Lipska, C Hughes, C Hughes, C Kemner, C Kemner, C Lord, C Park, CF Hohmann, CJ Machado, Cohen, CT Ashley Jr, D Tantam, D Whitehouse, DB Bailey Jr, DH Geschwind, DJ Laurie, DJ Posey, DL Braff, DR Denney, DW Smith, E Courchesne, E Courchesne, E Courchesne, E Courchesne, E Courchesne, E Courchesne, E Courchesne, E Fombonne, E Fransen, E Perry, E Tierney, EF Chang, EH Aylward, EH Aylward, EH Cook Jr, EH Cook Jr, EM Ornitz, EM Powell, F Castelli, F Graham, F Happ, F Kimura, G Raymond, GE Homanics, GJ Blatt, GM Anderson, GM McAlonan, GS Huh, GS Tint, GT Baranek, H Kamiguchi, H van Engeland, HA Ring, HD Critchley, I Cohen, I Krause, I Lucki, IJ Weiler, IM Smith, J Boucher, J Caston, J DeFelipe, J Piven, J Piven, J Piven, J Russell, J Townsend, J Townsend, J Townsend, J Veenstra-VanderWeele, J.L. McCauley, JA Burack, JA Court, JA Lamb, JE Long, JK Pritchard, JL Ingram, JLR Rubenstein, JM Silverman, JP Wisor, K Ballaban-Gil, K Hugdahl, K Pierce, K Pierce, K Rubia, KC Plaisted, KG Plaisted, KY Miyashiro, L Jorde, L Mottron, L Shi, LH Rolf, LJ Miller, LM Boulanger, LM Marubio, LR Cardon, M Alkondon, M Hallett, M Kuwamura, M Lauritsen, M Lee, M Pieretti, M Toichi, MA Geyer, MA Geyer, MA O'Riordan, Martha R. Herbert, MF Casanova, MH Johnson, MK Belmonte, MK Belmonte, MK Belmonte, ML Bauman, MR Picciotto, MR Young, MV Pletnikov, N Akshoomoff, N Risch, NL Ward, NR Mirza, NR Swerdlow, NR Swerdlow, O Marin, P Dalton, P Tueting, PH Patterson, PI Yakovlev, PK Todd, PM Whitaker-Azmitia, R DeLong, R Galvez, R Lalonde, R-A Müller, RA Carper, RA Corriveau, RC Belser, RE Amir, RI Kelley, RJ Schain, RM Carney, RN Leaton, RP Hobson, RP Warren, RP Warren, RP Warren, RT Schultz, S Alcantara, S Anderson, S Baron-Cohen, S Baron-Cohen, S Baron-Cohen, S Baron-Cohen, S Baron-Cohen, S Baron-Cohen, S Bobee, S Chakrabarti, S Gupta, S Jamain, S Ozonoff, S Stevens, S Tordjman, S Tordjman, SA Irwin, SA Irwin, SB Powell, SD Ugarte, SE Folstein, SE Folstein, SH Fatemi, SJ Kim, SJ Rogers, T Hashimoto, T Rogers, T Stühmer, T Stühmer, TA Comery, TH Wassink, TK Hensch, TM DeLorey, U Frith, U Frith, W Hirstein, W Reik, WT Greenough, Y Yu, YH Jiang, YH Jiang   +197 more
core   +1 more source

Identification of 19-nor-5,7,9(10)-cholestatrien-3 beta-ol in patients with Smith-Lemli-Opitz syndrome

Journal of Lipid Research, 1995
We have identified the third unknown sterol in the plasma and tissues of Smith-Lemli-Opitz homozygotes as 19-nor-5,7,9(10)-cholestatrien-3 beta-ol. The structure was established from capillary gas-liquid chromatography retention index and characteristic ...
A K Batta, G Salen, G S Tint, S Shefer
doaj   +1 more source

The Effect of Small Molecules on Sterol Homeostasis: Measuring 7-Dehydrocholesterol in Dhcr7-Deficient Neuro2a Cells and Human Fibroblasts [PDF]

, 2018
K
Balogh, István, Kim, Hye-Young H., Koczok, Katalin, Korade, Zeljka, Liu, Wei, Mirnics, Károly, Porter, Ned A., Tallman, Keri A., Xu, Libin   +8 more
core   +1 more source