Results 131 to 140 of about 4,480 (201)

Smith-Lemli-Opitz syndrome - Fetal phenotypes with special reference to the syndrome-specific internal malformation pattern. [PDF]

Birth Defects Res, 2020
Schoner K, Witsch-Baumgartner M, Behunova J, Petrovic R, Bald R, Kircher SG, Ramaswamy A, Kluge B, Meyer-Wittkopf M, Schmitz R, Fritz B, Zschocke J, Laccone F, Rehder H.   +13 more
europepmc   +1 more source

A sterol panel for rare lipid disorders: sitosterolemia, cerebrotendinous xanthomatosis and Smith-Lemli-Opitz syndrome. [PDF]

J Lipid Res
Westbye AB, Dizdarevic LL, Dahl SR, Asprusten EA, Bliksrud YT, Sandblom AL, Diczfalusy U, Thorsby PM, Retterstøl K.   +8 more
europepmc   +1 more source

Newborn screening: the genomic challenge [PDF]

, 2014
Levy, Harvey L
core   +1 more source

Elevated cerebrospinal fluid glial fibrillary acidic protein levels in Smith-Lemli-Opitz syndrome. [PDF]

Mol Genet Metab
Luke RA, Cawley NX, Rahhal S, Selvaraman A, Thurm A, Wassif CA, Porter FD.   +6 more
europepmc   +1 more source

Smith-Lemli-Opitz syndrome: what is the actual risk for couples carriers of the DHCR7:c.964-1G>C variant? [PDF]

Eur J Hum Genet, 2020
Daum H, Meiner V, Michaelson-Cohen R, Sukenik-Halevy R, Zalcberg ML, Bar-Ziv A, Weiden AT, Scher SY, Shohat M, Zlotogora J.   +9 more
europepmc   +1 more source

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

Cholesterol homeostasis role in neurodegenerative diseases [PDF]

, 2014
Fernández Coll, Meritxell, Universitat Autònoma de Barcelona. Facultat de Biociències   +1 more
core  

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