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

Two families of Lowe oculocerebrorenal syndrome with elevated serum HDL cholesterol levels and CETP gene mutation.

Acta paediatrica (Oslo, Norway : 1992) - 1 Jan 1997

Asami T, Inano K, Miida T, Kikuchi T, Uchiyama M

Abstract excerpt

The ocuolocerebrorenal syndrome of Lowe (OCRL) is an X-linked recessive disorder which is characterized by renal tubular dysfunction, congenital cataracts, and cognitive impairment. In a review article by Charnas et al. (N Engl J Med 1991; 324: 1318-25), hypercholesterolemia, due to elevated high-density lipoprotein cholesterol (HDL-C) levels, was described as being highly prevalent in OCRL patients. This report...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Carrier Proteins
Share to Child

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

Share to Child, Preschool

Share to DNA Mutational Analysis

Share to Infant

Share to Mutation

Share to Pedigree

Source

Identifiers

PMID: 9116424
DOI: 10.1111/j.1651-2227.1997.tb08829.x

Genes

OCRL
CETP

Variants

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

Two families of Lowe oculocerebrorenal syndrome with elevated serum HDL cholesterol levels and CETP gene mutation.PMID 9116424Read ↗

Selective proximal renal tubular involvement and dyslipidemia in two cousins with oculocerebrorenal syndrome of Lowe.Semantic proximity Read ↗

Novel pathogenic OCRL mutations and genotype-phenotype analysis of Chinese children affected by oculocerebrorenal syndrome: two cases and a literature review.Semantic proximity Read ↗

Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome.Semantic proximity Read ↗

Characterization of a germline mosaicism in families with Lowe syndrome, and identification of seven novel mutations in the OCRL1 gene.Semantic proximity Read ↗

Novel OCRL mutations in Chinese children with Lowe syndrome.Semantic proximity Read ↗

Identification of OCRL1 mutations in two Taiwanese Lowe syndrome patients.Semantic proximity Read ↗

Carrier assessment in families with lowe oculocerebrorenal syndrome: novel mutations in the OCRL1 gene and correlation of direct DNA diagnosis with ocular examination.Semantic proximity Read ↗

The oculocerebrorenal syndrome of Lowe: an update.Semantic proximity Read ↗

Two cases of Lowe syndrome caused by a novel mutation in OCRL gene in a familySemantic proximity Read ↗

Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome.Semantic proximity Read ↗

Case report of fetus with Lowe syndrome: Expanding the prenatal phenotype.Semantic proximity Read ↗

Novel mutation of OCRL1 in Lowe syndrome.Semantic proximity Read ↗

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