Article

A Review of Multiple Diagnostic Approaches in the Undiagnosed Diseases Network to Identify Inherited Metabolic Diseases

2024-10-11

Abstract excerpt

<title>Abstract</title> <p>Background The number of known inherited metabolic diseases (IMDs) has been expanding, and the rate of diagnosis is improving with the development of innovative approaches including next generation sequencing (NGS). However, a substantial proportion of IMDs remain undetected by traditional diagnostic approaches. We aim to highlight the spectrum of IMDs diagnosed by the Undiagnosed Dise...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 437cb419-b85e-5e7b-9420-60fc2a986da5
DOI: 10.21203/rs.3.rs-4588411/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

A Review of Multiple Diagnostic Approaches in the Undiagnosed Diseases Network to Identify Inherited Metabolic DiseasesDOI 10.21203/rs.3.rs-4588411/v1Read

An Optimized Diagnostic Approach for Adults With Suspected Inherited Metabolic Disorders.Semantic proximity Read

Towards needed improvements in inherited metabolic medicine in adulthood: The SIMMESN adult metabolic working group and MetabERN Joint Position Statement.Semantic proximity Read

An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patientsSemantic proximity Read

Inherited Metabolic Disorder-Related Genes and Mutation Spectrum in Iranians: An 11-Year Analysis Using Next-Generation Sequencing and Sanger SequencingSemantic proximity Read

Clouds over IEMs? Perspectives for inherited metabolic diseases in adults from a retrospective cohort study in two Swiss adult metabolic clinicsSemantic proximity Read

Genome Sequencing Identifies Monogenic Causes in Adults with Metabolic DiseasesSemantic proximity Read

Inherited metabolic rare disease.Semantic proximity Read

Prevalence of Individuals With Multiple Diagnosed Genetic Diseases in the Undiagnosed Diseases Network.Semantic proximity Read

U-IMD: The first Unified European registry for Inherited Metabolic DiseasesSemantic proximity Read

Comparative analysis of inherited metabolic diseases in normal newborns and high-risk children: Insights from a 10-year study in ShanghaiSemantic proximity Read

Inherited Metabolic Diseases From Past to Present: A Bibliometric Analysis (1968-2023)Semantic proximity Read

Diagnostic yield of clinical exome sequencing as a first-tier genetic test for the diagnosis of genetic disorders in pediatric patients: results from a referral center studySemantic proximity Read