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Neurogenetic and Metabolic Mimics of Common Neonatal Neurological Disorders.
Burns, William; Chaudhari, Bimal P; Haffner, Darrah N.
Afiliação
  • Burns W; Division of Genetics and Genomic Medicine, Nationwide Children's Hospital, Columbus, OH; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH. Electronic address: William.burns@nationwidechildrens.org.
  • Chaudhari BP; Division of Genetics and Genomic Medicine, Nationwide Children's Hospital, Columbus, OH; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH; Division of Neonatology, Nationwide Children's Hospital, Columbus, OH; Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH.
  • Haffner DN; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH; Division of Neurology, Nationwide Children's Hospital, Columbus, OH.
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.
Assuntos

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 / Newborn Idioma: En Ano de publicação: 2022 Tipo de documento: Article

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 / Newborn Idioma: En Ano de publicação: 2022 Tipo de documento: Article