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

Inborn Errors of Metabolism

15 Jun 2015

Abstract excerpt

Inborn errors of metabolism (IEMs) are a large class of genetic disorders characterized by disruption of cellular biochemical functions. Although individual IEMs are rare, collectively they represent a large and diverse class of genetic conditions, with new disorders and disease mechanisms being described regularly. Advances in the understanding of the molecular and biochemical etiologies of many IEMs via...

Read the complete abstract on PubMed

Topics

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

Share to Biochemical and Molecular Research
Share to Metabolism and Genetic Disorders
Share to Neonatal Health and Biochemistry

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Source

Identifiers

PMID: 26075348
DOI: 10.1001/jamapediatrics.2015.0754

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 16 Oct 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Inborn Errors of MetabolismPMID 26075348Read ↗

Inborn Errors of Metabolism.Semantic proximity Read ↗

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

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

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

Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia.Semantic proximity Read ↗

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

Inborn errors of purine and pyrimidine metabolismSemantic proximity Read ↗

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

Acute Encephalopathy Caused by Inherited Metabolic DiseasesSemantic proximity Read ↗

Neurological Presentations in Pediatric Patients with Inborn Errors of Metabolism: A single-center studySemantic proximity Read ↗

Inborn Errors of Amino Acid Metabolism Revisited: Clinical Implications and Insights into Current TherapiesSemantic proximity Read ↗

Tandem Mass Spectrometry Screening for Inborn Errors of Metabolism in Newborns and High-Risk Infants in Southern China: Disease Spectrum and Genetic Characteristics in a Chinese PopulationSemantic proximity Read ↗

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