Accumulation and impaired in vivo metabolism of di- and trihydroxycholestanoic acid in two patients.

doi:10.1016/0009-8981(91)90043-c

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

Back to search

Article

Accumulation and impaired in vivo metabolism of di- and trihydroxycholestanoic acid in two patients.

Clinica chimica acta; international journal of clinical chemistry - 31 Oct 1991

Wanders R J, Casteels M, Mannaerts G P, van Roermund C W, Schutgens R B, Kozich V, Zeman J, Hyanek J

Abstract excerpt

Two patients with a suspected peroxisomal disorder on the basis of neurological, craniofacial, hepatological and other abnormalities were studied. The phenotype of both girls was remarkably similar from birth until age 1.5 yr. Detailed studies in plasma revealed normal plasma very-long-chain fatt...

Topics

Abnormalities, Multiple
Acyl Coenzyme A
Bile Acids and Salts
Cells, Cultured
Cholestanols
Coenzyme A Ligases
Dicarboxylic Acids
Diseases in Twins
Fatty Acids, Nonesterified
Female
Fibroblasts
Humans
Infant
Liver
Microbodies
Palmitoyl Coenzyme A
Phenotype
Repressor Proteins

Source

Open in PubMed

Identifiers

PMID: 1839974
DOI: 10.1016/0009-8981(91)90043-c

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-1839974-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics