Article

Genetic and Metabolic Diseases: To Split or to Lump?

2025-10-09

Abstract excerpt

<h4>Background: </h4> Neurodevelopmental disorders, hypotonia, microcephaly or macrocephaly, poor growth and distinctive facial traits are some of the most common reasons to refer a child to an expert consultant. But which expert? A priori response might not be always predictable. Clinical experience teaches that it is not unusual to come across a metabolic diagnosis in a patient suspected of a genetic condition a...

Topics

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

Identifiers and source

Literature Corpus work: e8f5c2ce-56ee-5d5b-b1ab-a3fbec6d3c1e
DOI: 10.20944/preprints202510.0722.v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Genetic and Metabolic Diseases: To Split or to Lump?DOI 10.20944/preprints202510.0722.v1Read

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

What can pediatricians learn from adult inherited metabolic diseases?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

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

Inherited metabolic rare disease.Semantic proximity Read

Clinician Perspectives about Molecular Genetic Testing for Heritable Conditions and Development of a Clinician-Friendly Laboratory ReportSemantic proximity Read

Rare disease landscape in Brazil: report of a successful experience in inborn errors of metabolismSemantic proximity Read

Genetic and Metabolic Conditions.Semantic proximity Read

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

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

Hereditary metabolic diseases (HMDs) in adult practice in Ireland: a preliminary assessment.Semantic proximity Read