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

The first Korean case of lysinuric protein intolerance: presented with short stature and increased somnolence.

Journal of Korean medical science - 1 Aug 2012

Ko Jung Min, Shin Choong Ho, Yang Sei Won, Seong Moon Woo, Park Sung Sup, Song Junghan

Abstract excerpt

Lysinuric protein intolerance (LPI) is a rare inherited metabolic disease, caused by defective transport of dibasic amino acids. Failure to thrive, hepatosplenomegaly, hematological abnormalities, and hyperammonemic crisis are major clinical features. However, there has been no reported Korean patient with LPI as of yet. We recently encountered a 3.7-yr-old Korean girl with LPI and the diagnosis was confirmed by...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acid Metabolism, Inborn Errors
Share to Carnitine

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Citrulline

Share to Diet, Protein-Restricted

Share to Hypercalcemia

Share to Metabolic Diseases

Share to Nephrocalcinosis

Share to Vitamin B Complex

Source

Open in PubMed Open full text

Identifiers

PMID: 22876067
DOI: 10.3346/jkms.2012.27.8.961
PMCID: PMC3410248

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The first Korean case of lysinuric protein intolerance: presented with short stature and increased somnolence.PMID 22876067Read ↗

First reported case of lysinuric protein intolerance (LPI) in Lithuania, confirmed biochemically and by DNA analysis.Semantic proximity Read ↗

Molecular and clinical evaluation of Turkish patients with lysinuric protein intolerance.Semantic proximity Read ↗

Lysinuric protein intolerance: reviewing concepts on a multisystem disease.Semantic proximity Read ↗

Clinical and genetic features of lysinuric protein intolerance in Japan.Semantic proximity Read ↗

Update on Lysinuric Protein Intolerance, a Multi-faceted Disease Retrospective cohort analysis from birth to adulthood.Semantic proximity Read ↗

Biochemical and molecular characteristics of Malaysian patients with lysinuric protein intolerance.Semantic proximity Read ↗

Lysinuric protein intolerance associated systemic lupus erythematosus with new mutations in the SLC7A7 geneSemantic proximity Read ↗

Gene symbol: SLC7A7. Disease: Lysinuric protein intolerance.Semantic proximity Read ↗

Untitled literature recordSemantic proximity Read ↗

The utility of reverse phenotyping: a case of lysinuric protein intolerance presented with childhood osteoporosis.Semantic proximity Read ↗

Lysinuric protein intolerance presenting with recurrent infections, severe liver injury and anemia in the neonatal period: A case report with organic acidemia-like manifestationsSemantic proximity Read ↗

Lysinuric protein intolerance: update and extended mutation analysis of the SLC7A7 gene.Semantic proximity Read ↗

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