Article

Neurological Presentations in Pediatric Patients with Inborn Errors of Metabolism: A single-center study

2024-11-08

Abstract excerpt

<title>Abstract</title> <p>Background Inborn errors of metabolism (IEMs) represent a diverse group of genetic disorders characterized by enzyme deficiencies in metabolic pathways, with a collective incidence exceeding 1 in 1,000 live births. Although many patients may appear asymptomatic at birth, they often present with nonspecific neurological symptoms later, complicating diagnosis and treatment. This study ai...

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Literature Corpus work: 21da6d8a-6b86-5698-abdd-870f7a74a9a7
DOI: 10.21203/rs.3.rs-5263731/v1

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