Results 81 to 90 of about 2,108 (140)

First documented case of Smith-Lemli-Opitz syndrome in Syria: clinical presentation, diagnosis, and experimental management with simvastatin. [PDF]

Oxf Med Case Reports
Aladia AH, Hamdan S, Alkheder A.
europepmc   +1 more source

Dietary cholesterol supplementation and inhibitory factor 1 serum levels in two dizygotic Smith-Lemli-Opitz syndrome twins: a case report. [PDF]

Ital J Pediatr, 2020
Delvecchio M, Rapone B, Simonetti S, Fecarotta S, De Carlo G, Favoino E, Loverro MT, Romano AMI, Taurino F, Di Naro E, Gnoni A.   +10 more
europepmc   +1 more source

Cholic acid increases plasma cholesterol in Smith-Lemli-Opitz syndrome: A pilot study. [PDF]

Mol Genet Metab Rep
Elias ER, Orth LE, Li A, Xu L, Jones SM, Rizzo WB.   +5 more
europepmc   +1 more source

Bile acid biosynthesis in Smith-Lemli-Opitz syndrome bypassing cholesterol: Potential importance of pathway intermediates.

J Steroid Biochem Mol Biol, 2021
Abdel-Khalik J, Hearn T, Dickson AL, Crick PJ, Yutuc E, Austin-Muttitt K, Bigger BW, Morris AA, Shackleton CH, Clayton PT, Iida T, Sircar R, Rohatgi R, Marschall HU, Sjövall J, Björkhem I, Mullins JGL, Griffiths WJ, Wang Y.   +18 more
europepmc   +1 more source

Visualisation of cholesterol and ganglioside GM1 in zebrafish models of Niemann-Pick type C disease and Smith-Lemli-Opitz syndrome using light sheet microscopy. [PDF]

Histochem Cell Biol, 2020
Cook SR, Bladen C, Smith J, Maguire E, Copner J, Fenn GD, Wager K, Waller-Evans H, Lloyd-Evans E.   +8 more
europepmc   +1 more source

Sterol biosynthesis regulates TLR signaling and the innate immune response in a Smith-Lemli-Opitz syndrome model. [PDF]

J Clin Invest
Gabor K, Mesev EV, Madenspacher J, Meacham J, Rai P, Moon S, Wassif CA, Shaikh SR, Tucker CJ, Karmaus P, Bianconi S, Porter FD, Fessler MB.   +12 more
europepmc   +1 more source

Smith-Lemli-Opitz Syndrome with Biallelic c.1295A>G (p.Tyr432Cys) Variant in the DHCR7 Gene in a 73-Year-Old Woman: Report of the Oldest Patient. [PDF]

Mol Syndromol
Yılmaz M, Bebek O, Turkyilmaz A.
europepmc   +1 more source

Vitamin D levels in Smith-Lemli-Opitz syndrome. [PDF]

Am J Med Genet A, 2017
Movassaghi M, Bianconi S, Feinn R, Wassif CA, Porter FD.   +4 more
europepmc   +1 more source

Pulmonary vein stenosis in patients with Smith-Lemli-Opitz syndrome. [PDF]

Congenit Heart Dis, 2017
Prosnitz AR, Leopold J, Irons M, Jenkins K, Roberts AE.   +4 more
europepmc   +1 more source