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

Chubby face and the biochemical parameters for the early diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency.

Journal of pediatric gastroenterology and nutrition - 1 Aug 2008

Chen Hung-Wen, Chen Huey-Ling, Ni Yen-Hsuan, Lee Ni-Chung, Chien Yin-Hsiu, Hwu Wuh-Liang, Huang Yuan-Te, Chiu Pao-Chin, Chang Mei-Hwei

Abstract excerpt

OBJECTIVES: To identify facial and biochemical characteristics as early clinical features of neonatal intrahepatic cholestasis due to citrin deficiency (NICCD). PATIENTS AND METHODS: Ten patients with diagnoses of NICCD by SLC25A13 mutation analysis in Taiwan were recruited. A "Chubby Index" was...

Read the complete abstract on PubMed

Topics

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

Share to alpha-Fetoproteins
Share to Bilirubin
Share to Blood Chemical Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cholestasis, Intrahepatic

Share to Liver Function Tests

Share to Mitochondrial Membrane Transport Proteins

Share to Organic Anion Transporters

Source

Identifiers

PMID: 18664871
DOI: 10.1097/MPG.0b013e318162d96d

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18664871-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Chubby face and the biochemical parameters for the early diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency.PMID 18664871Read ↗

Neonatal intrahepatic cholestasis caused by citrin deficiency: clinical and laboratory investigation of 13 subjects in mainland of China.Semantic proximity Read ↗

Features of liver injury in 138 Chinese patients with NICCD.Semantic proximity Read ↗

Clinical characteristics and genetic analysis of neonatal intrahepatic cholestasis caused by citrin deficiency in comparison with idiopathic neonatal cholestasis.Semantic proximity Read ↗

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

Update on the diagnosis and management of neonatal intrahepatic cholestasis caused by citrin deficiency: Expert review on behalf of the Asian Pan-Pacific Society for Pediatric Gastroenterology, Hepatology, and Nutrition.Semantic proximity Read ↗

The prognosis of citrin deficiency differs between early-identified newborn and later-onset symptomatic infants.Semantic proximity Read ↗

A new Caucasian case of neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD): A clinical, molecular, and functional studySemantic proximity Read ↗

Clinical pictures of 75 patients with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD).Semantic proximity Read ↗

Diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency using high-resolution melting analysis and a clinical scoring system.Semantic proximity Read ↗

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

Hepatic steatosis and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in Taiwanese infants.Semantic proximity Read ↗

Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency with SLC25A13 Mutation Presenting Hepatic Steatosis and Prolonged Jaundice. A Rare Case Report.Semantic proximity Read ↗

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