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

Genotype and phenotype analysis of a cohort of patients with congenital hyperinsulinism based on DOPA-PET CT scanning

19 Jun 2019

Abstract excerpt

Congenital hyperinsulinism (CHI) is a clinically, genetically, and morphologically heterogeneous disorder. 18 F DOPA-PET CT scanning greatly improves its clinical outcome. Here, we presented the first Chinese 18 F DOPA-PET CT scanning–based CHI cohort highlighting the variable ethic clinical phenotypes and genotypes. Fifty CHI patients were recruited. Median age at presentation was 2 days. Median fasting time was...

Read the complete abstract on PubMed

Topics

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

Share to Hyperglycemia and glycemic control in critically ill and hospitalized patients
Share to Neuroblastoma Research and Treatments

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Pancreatic and Hepatic Oncology Research

Source

Identifiers

PMID: 31218401
DOI: 10.1007/s00431-019-03408-6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genotype and phenotype analysis of a cohort of patients with congenital hyperinsulinism based on DOPA-PET CT scanningPMID 31218401Read ↗

A compound heterozygous mutation of ABCC8 gene causing a diazoxide-unresponsive congenital hyperinsulinism with an atypical form: Not a focal lesion in the pancreas reported by ¹⁸F-DOPA-PET/CT scan.Semantic proximity Read ↗

Congenital hyperinsulinism in Chinese patients: 5-yr treatment outcome of 95 clinical cases with genetic analysis of 55 cases.Semantic proximity Read ↗

ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism.Semantic proximity Read ↗

Congenital Hyperinsulinism Caused by Mutations in ABCC8 Gene Associated with Early-Onset Neonatal Hypoglycemia: Genetic Heterogeneity Correlated with Phenotypic Variability.Semantic proximity Read ↗

Focal congenital hyperinsulinism managed by medical treatment: a diagnostic algorithm based on molecular genetic screening.Semantic proximity Read ↗

Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism.Semantic proximity Read ↗

Genetic Heterogeneity Correlated with Phenotypic Variability in Congenital Hyperinsulinism Caused by Mutation in ABCC8 Gene Associated with Early‐Onset Persistent Neonatal HypoglycemiaSemantic proximity Read ↗

Integrating genetic and imaging investigations into the clinical management of congenital hyperinsulinismSemantic proximity Read ↗

Characterization of Congenital Hyperinsulinism in Argentina: Clinical Features, Genetic Findings, and Treatment OutcomesSemantic proximity Read ↗

Perspective on the Genetics and Diagnosis of Congenital Hyperinsulinism DisordersSemantic proximity Read ↗

Genetic and Clinical Characterisation of Congenital Hyperinsulinism: Identification of a Novel ABCC8 Variant.Semantic proximity Read ↗

Current Status of Childhood Hyperinsulinemic Hypoglycemia in Turkey.Semantic proximity Read ↗

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