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

Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism.

PloS one - 1 Jan 2016

Yubero Dèlia, Brandi Núria, Ormazabal Aida, Garcia-Cazorla Àngels, Pérez-Dueñas Belén, Campistol Jaime, Ribes Antonia, Palau Francesc, Artuch Rafael, Armstrong Judith

Abstract excerpt

BACKGROUND: Next-generation sequencing (NGS) technology has allowed the promotion of genetic diagnosis and are becoming increasingly inexpensive and faster. To evaluate the utility of NGS in the clinical field, a targeted genetic panel approach was designed for the diagnosis of a set of inborn errors of metabolism (IEM). The final aim of the study was to compare the findings for the diagnostic yield of NGS in...

Read the complete abstract on PubMed

Topics

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

Share to DNA Mutational Analysis
Share to Genetic Markers

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to High-Throughput Nucleotide Sequencing

Share to Metabolism, Inborn Errors

Share to Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 27243974
DOI: 10.1371/journal.pone.0156359
PMCID: PMC4887012

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

Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism.PMID 27243974Read ↗

Utility of Gene Panels for the Diagnosis of Inborn Errors of Metabolism in a Metabolic Reference Center.Semantic proximity Read ↗

Molecular diagnosis of inborn errors of metabolism.Semantic proximity Read ↗

Newborn Screening for Inborn Errors of Metabolism by Next-Generation Sequencing Combined with Tandem Mass SpectrometrySemantic proximity Read ↗

Reproductive genetic carrier screening and inborn errors of metabolism: The voice of the inborn errors of metabolism community needs to be heard.Semantic proximity Read ↗

Occurrence of Inborn Errors of Metabolism in Newborns, Diagnosis and Prophylaxis.Semantic proximity Read ↗

Next‐generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patientsSemantic proximity Read ↗

Spectrum analysis of inborn errors of metabolism for expanded newborn screening in a northwestern Chinese population.Semantic proximity Read ↗

Human biochemical genetics: an insight into inborn errors of metabolism.Semantic proximity Read ↗

Inborn Errors of MetabolismSemantic proximity Read ↗

Clinical utility in infants with suspected monogenic conditions through next‐generation sequencingSemantic proximity Read ↗

Chinese genetic variation database of inborn errors of metabolism: a systematic review of published variants in 13 genes.Semantic proximity Read ↗

Common metabolic disorder (inborn errors of metabolism) concerns in primary care practiceSemantic proximity Read ↗

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