Results 71 to 80 of about 2,108 (140)

Compromised lipid metabolism, mitochondria respiration and neuroprotective effects in iPSC-derived astrocytes from a Smith-Lemli-Opitz syndrome patient. [PDF]

Hum Mol Genet
Kawatani K, Baker SK, Yaeger JDW, Anderson RH, Ren Y, Li Z, Bao H, Han X, Francis KR, Kanekiyo T.   +9 more
europepmc   +1 more source

Smith-Lemli-Opitz-syndrome: How different is the anesthetic technique?

Saudi Journal of Anaesthesia, 2014
Srinivasa Raghavan Govindarajan, Puneet Khanna, Amar P Bhalla, Anil Kumar   +3 more
doaj   +1 more source

Use of a cholesterol emulsion in Smith-Lemli-Opitz syndrome (SLOS): A single-center observational study, retrospective analysis and structured caregiver interview. [PDF]

Lipids Health Dis
Fischer T, Born A, Harmeling S, Fobker M, Och U, Elpers C, Marquardt T.   +6 more
europepmc   +1 more source

Exploring Recent Developments in the Manifestation, Diagnosis, and Treatment of Patients with Smith-Lemli-Opitz Syndrome: From Molecular Pathways to Clinical Innovations. [PDF]

Int J Mol Sci
Żukowska A, Król M, Kupnicka P, Bąk K, Janawa K, Chlubek D.   +5 more
europepmc   +1 more source

Transcriptomic Changes Associated with Loss of Cell Viability Induced by Oxysterol Treatment of a Retinal Photoreceptor-Derived Cell Line: An In Vitro Model of Smith-Lemli-Opitz Syndrome. [PDF]

Int J Mol Sci, 2021
Pfeffer BA, Xu L, Fliesler SJ.
europepmc   +1 more source

Assessing Postnatal Mortality in Smith-Lemli-Opitz Syndrome. [PDF]

Am J Med Genet A
Selvaraman A, Rahhal S, Bianconi S, Furnary T, Porter FD.   +4 more
europepmc   +1 more source

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

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