Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Prenatal detection of the cholesterol biosynthetic defect in the Smith‐Lemli‐Opitz syndrome by the analysis of amniotic fluid sterols

15 Apr 1995

Abstract excerpt

The Smith-Lemli-Opitz (SLO or RSH) syndrome is an autosomal recessive disorder characterized by a recognizable pattern of minor facial anomalies, congenital anomalies of many organs, failure to thrive, and mental retardation. Its cause is a defect in cholesterol biosynthesis characterized by abnormally low plasma cholesterol levels and concentrations of the cholesterol precursor 7-dehydrocholesterol (7DHC)...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cholesterol and Lipid Metabolism
Share to Peroxisome Proliferator-Activated Receptors
Share to Pregnancy and preeclampsia studies

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Source

Identifiers

PMID: 7778590
DOI: 10.1002/ajmg.1320560309

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Prenatal detection of the cholesterol biosynthetic defect in the Smith‐Lemli‐Opitz syndrome by the analysis of amniotic fluid sterolsPMID 7778590Read ↗

Defective Cholesterol Biosynthesis Associated with the Smith-Lemli-Opitz SyndromeSemantic proximity Read ↗

Diagnosis of Smith-Lemli-Opitz syndrome by gas chromatography/mass spectrometry of 7-dehydrocholesterol in plasma, amniotic fluid and cultured skin fibroblastsSemantic proximity Read ↗

Smith-Lemli-Opitz syndrome: the first malformation syndrome associated with defective cholesterol synthesis.Semantic proximity Read ↗

Sterol profiling of amniotic fluid: a routine method for the detection of distal cholesterol synthesis deficitSemantic proximity Read ↗

Smith-Lemli-Opitz syndrome: Clinical, biochemical, and genetic insights with emerging treatment opportunities.Semantic proximity Read ↗

Maternal urinary steroid profiles in prenatal diagnosis of Smith-Lemli-Opitz syndrome: first patient series comparing biochemical and molecular studies.Semantic proximity Read ↗

Smith-Lemli-Opitz syndrome: phenotype, natural history, and epidemiology.Semantic proximity Read ↗

RSH/Smith-Lemli-Opitz syndrome: a multiple congenital anomaly/mental retardation syndrome due to an inborn error of cholesterol biosynthesis.Semantic proximity Read ↗

Cholesterol and development: the RSH ("Smith-Lemli-Opitz") syndrome and related conditions.Semantic proximity Read ↗

Biochemical and genetic aspects of 7-dehydrocholesterol reductase and Smith-Lemli-Opitz syndrome.Semantic proximity Read ↗

Prenatal diagnosis of the RSH/Smith-Lemli-Opitz syndromeSemantic proximity Read ↗

Prenatal diagnosis of Smith-Lemli-Opitz syndrome.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.