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

Inborn errors of sterol biosynthesis.

Annual review of genomics and human genetics - 1 Jan 2001

Kelley R I, Herman G E

Abstract excerpt

The known disorders of cholesterol biosynthesis have expanded rapidly since the discovery that Smith-Lemli-Opitz syndrome is caused by a deficiency of 7-dehydrocholesterol. Each of the six now recognized sterol disorders-mevalonic aciduria, Smith-Lemli-Opitz syndrome, desmosterolosis, Conradi-Hünermann syndrome, CHILD syndrome, and Greenberg dysplasia-has added to our knowledge of the relationship between...

Read the complete abstract on PubMed

Topics

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

Share to Phenotype
Share to Phosphotransferases (Alcohol Group Acceptor)
Share to Cholesterol

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

Share to Cholesterol and Lipid Metabolism

Share to Disease Models, Animal

Share to Genotype

Share to Lipid Metabolism, Inborn Errors

Share to Molecular Epidemiology

Source

Identifiers

PMID: 11701653
DOI: 10.1146/annurev.genom.2.1.299

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

Inborn errors of sterol biosynthesis.PMID 11701653Read ↗

Inherited disorders of cholesterol biosynthesis.Semantic proximity Read ↗

Disorders of cholesterol biosynthesis: prototypic metabolic malformation syndromesSemantic proximity Read ↗

Malformation syndromes caused by disorders of cholesterol synthesisSemantic proximity Read ↗

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

Defects of cholesterol biosynthesisSemantic proximity Read ↗

The Smith-Lemli-Opitz syndrome: a novel metabolic way of understanding developmental biology, embryogenesis, and dysmorphology.Semantic proximity Read ↗

Inherited disorders of cholesterol biosynthesisSemantic proximity Read ↗

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

Recent insights into the Smith-Lemli-Opitz syndrome.Semantic proximity Read ↗

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

Inborn Errors of Cholesterol BiosynthesisSemantic proximity Read ↗

Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency.Semantic proximity Read ↗

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