Results 121 to 130 of about 4,480 (201)

Carrier frequency and incidence estimation of Smith-Lemli-Opitz syndrome in East Asian populations by Genome Aggregation Database (gnomAD) based analysis. [PDF]

Orphanet J Rare Dis, 2021
Park JE, Lee T, Ha K, Ki CS.
europepmc   +1 more source

Extremely variable expressivity in Smith-Lemli-Opitz syndrome: Review of 4 cases

Anales de Pediatría (English Edition), 2022
María José Sánchez-Soler, Ana Teresa Serrano-Antón, Vanesa López-González, María Juliana Ballesta-Martínez, Encarna Guillén-Navarro   +4 more
doaj   +1 more source

Altered Cerebrospinal Fluid Proteins in Smith-Lemli-Opitz Syndrome. [PDF]

J Proteome Res
Li W, Pergande MR, Serna-Perez F, Patel V, Crutchfield CA, Searle BC, Picache JA, Farhat NM, Wassif CA, Backlund PS, Bianconi S, Pacak K, Freel BA, Francis KR, Porter FD, Cologna SM.   +15 more
europepmc   +1 more source

Cross-sectional analysis of expressive and receptive language skills in Smith-Lemli-Opitz syndrome (SLOS). [PDF]

J Rare Dis (Berlin)
Morris SM, Tierney E.
europepmc   +1 more source

Use of cholic acid in Smith-Lemli-Opitz syndrome (SLOS): real-world patient outcomes. [PDF]

Orphanet J Rare Dis
Ferren E, Hillman PR, Kritzer A, Ray J, Serrano A, Northrup H, Roberts P, Dutta R, Pramparo T, Vig P, Steiner RD.   +10 more
europepmc   +1 more source

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