ReviewDiagnostics (Basel, Switzerland)2025
The Usefulness of Basic Laboratory Analyses in Diagnostics of Inherited Metabolic Diseases in Children.
Review in Diagnostics (Basel, Switzerland), 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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2 authors.
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Abstract
Pediatricians play a crucial role in the early diagnosis and management of inherited metabolic diseases (IMDs). The diagnosis of IMD is based on the principle of selective screening, often requiring highly specialized testing, including biochemical and molecular analyses. The aim of this comprehensive review was to provide pediatricians with the usefulness of basic laboratory analyses in diagnostic process of IMD. The abnormal results of basic laboratory analyses were thoroughly discussed in the context of clinical manifestations of IMDs. Easy-to-use algorithms were implemented to ensure an appropriate differential diagnosis.
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