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Clinical Presentation of Inherited Metabolic Diseases in Newborns Hospitalised in an Intensive Care Unit

BACKGROUND: The first clinical manifestations of inherited metabolic diseases occur in the neonatal period in up to half of cases, often with nonspecific symptoms, making their recognition challenging. This study aimed to characterise inherited metabolic disease cases with neonatal presentation requ...

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Detalles Bibliográficos
Autores principales: Teixeira, Catarina, Cordeiro, Catarina, Pinto, Carla, Diogo, Luísa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sciendo 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10578465/
https://www.ncbi.nlm.nih.gov/pubmed/37843971
http://dx.doi.org/10.34763/jmotherandchild.20232701.d-23-00021