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

Biochemical and molecular characteristics of citrin deficiency in Korean children.

Journal of human genetics - 1 Feb 2017

Oh Seak Hee, Lee Beom Hee, Kim Gu-Hwan, Choi Jin-Ho, Kim Kyung Mo, Yoo Han-Wook

Abstract excerpt

Mutations in SLC25A13 cause citrin deficiency, which has three phenotypes: neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD), failure to thrive and dyslipidemia caused by citrin deficiency (FTTDCD) and adult-onset type 2 citrullinemia (CTLN2). The purpose of this study was to determine the mutation spectrum and the clinical and biochemical characteristics of citrin deficiency in Korean...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acids
Share to Asian People
Share to Citrullinemia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Failure to Thrive

Share to Infant

Share to Infant, Newborn

Share to Mitochondrial Membrane Transport Proteins

Share to Republic of Korea

Source

Identifiers

PMID: 27829683
DOI: 10.1038/jhg.2016.131

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Biochemical and molecular characteristics of citrin deficiency in Korean children.PMID 27829683Read ↗

Six cases of citrin deficiency in Korea.Semantic proximity Read ↗

Neonatal intrahepatic cholestasis associated with citrin deficiency (NICCD): a case series of 11 Malaysian patients.Semantic proximity Read ↗

Neonatal intrahepatic cholestasis caused by citrin deficiency in Korean infants.Semantic proximity Read ↗

SLC25A13 gene analysis in citrin deficiency: sixteen novel mutations in East Asian patients, and the mutation distribution in a large pediatric cohort in China.Semantic proximity Read ↗

Characteristics of patients with neonatal intrahepatic cholestasis caused by citrin deficiency in China: long-term follow-up outcomes.Semantic proximity Read ↗

Neonatal intrahepatic cholestasis caused by citrin deficiency: prevalence and SLC25A13 mutations among Thai infants.Semantic proximity Read ↗

Citrin deficiency due to SLC25A13 exon deletion in a Chinese infant: A case report.Semantic proximity Read ↗

Clinical and genetic analysis of 26 Chinese patients with neonatal intrahepatic cholestasis due to citrin deficiency.Semantic proximity Read ↗

Molecular diagnosis of pediatric patients with citrin deficiency in China: SLC25A13 mutation spectrum and the geographic distribution.Semantic proximity Read ↗

Clinical findings in five Turkish patients with citrin deficiency and identification of a novel mutation on SLC25A13.Semantic proximity Read ↗

Genotypic and phenotypic features of citrin deficiency: five-year experience in a Chinese pediatric center.Semantic proximity Read ↗

Development of a quantitative real-time PCR-based newborn screening system for citrin deficiency using dried blood spots.Semantic proximity Read ↗

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