Article

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

2025-11-18

Abstract excerpt

<title>Abstract</title> <p> Background Inherited metabolic disorders (IMDs) are a heterogeneous group of rare diseases caused by genetic variants that disrupt key metabolic pathways. This retrospective study aims to provide a comprehensive molecular understanding of IMDs in Iran by studying the genetic profiles of individuals clinically suspected of IMDs (n = 405) referred to our center, along with individuals (...

Topics

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

Identifiers and source

Literature Corpus work: 457e85fe-d2a2-5f69-bc66-46e83128a59f
DOI: 10.21203/rs.3.rs-7728142/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Inherited Metabolic Disorder-Related Genes and Mutation Spectrum in Iranians: An 11-Year Analysis Using Next-Generation Sequencing and Sanger SequencingDOI 10.21203/rs.3.rs-7728142/v1Read

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

Frequency of Carriers for Rare Metabolic Diseases in a Brazilian Cohort of 320 PatientsSemantic proximity Read

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

Identification of 19 Pathogenic Variants in a Clinically Heterogeneous Cohort With Suspected Inborn Errors of Metabolism.Semantic proximity Read

Incidence and genetic variants of inborn errors of metabolism identified through newborn screening: A 7‐year study in eastern coastal areas of ChinaSemantic proximity Read

Inherited metabolic rare disease.Semantic proximity Read

Estimation of the global burden of autosomal recessive rare inborn errors of metabolismSemantic proximity Read

NGS-driven molecular diagnosis of heterogeneous hereditary neurological disorders reveals novel and known variants in disease-causing genes.Semantic proximity Read

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

Expanded newborn screening for inherited metabolic disorders by tandem mass spectrometry in a northern Chinese populationSemantic proximity Read

A pilot study of expanded newborn screening for 573 genes related to severe inherited disorders in China: results from 1,127 newbornsSemantic proximity Read