Neurogenetic and Metabolic Mimics of Common Neonatal Neurological Disorders.
Semin Pediatr Neurol
; 42: 100972, 2022 07.
Article
em En
| MEDLINE
| ID: mdl-35868729
Neurogenetic and metabolic diseases often present in the neonatal period, masquerading as other disorders, most commonly as neonatal encephalopathy and seizures. Advancements in our understanding of inborn errors of metabolism are leading to an increasing number of therapeutic options. Many of these treatments can improve long-term neurodevelopment and seizure control. However, the treatments are frequently condition-specific. A high index of suspicion is required for prompt identification and treatment. When suspected, simultaneous metabolic and molecular testing are recommended along with concurrent treatment.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Encefalopatias
/
Neurociências
/
Doenças do Recém-Nascido
/
Erros Inatos do Metabolismo
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Humans
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Newborn
Idioma:
En
Ano de publicação:
2022
Tipo de documento:
Article