A child with night blindness: preventing serious symptoms of Refsum disease.

doi:10.1177/0883073811424799

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

Community

Back to search

Article

A child with night blindness: preventing serious symptoms of Refsum disease.

Journal of child neurology - 1 May 2012

Kohlschütter Alfried, Santer René, Lukacs Zoltan, Altenburg Christiane, Kemper Markus J, Rüther Klaus

Abstract excerpt

Refsum disease is a genetic progressive neurological disorder caused by neurotoxic phytanic acid, a nutritional component patients are unable to metabolize. Symptoms include retinopathy, polyneuropathy, ataxia, and deafness. They are variable and rarely recognized before adulthood. The authors report the case of a 14-year-old girl diagnosed because of night blindness. They treated her with a phytanic acid-poor...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Lipoproteins, LDL
Share to Longitudinal Studies
Share to Mixed Function Oxygenases

Source

Open in PubMed

Identifiers

PMID: 22156782
DOI: 10.1177/0883073811424799

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Night Blindness