Establishment and validation of a clinical severity scoring system for succinic semialdehyde dehydrogenase deficiency.

Tokatly Latzer, Itay; Roullet, Jean-Baptiste; Gibson, K Michael; Pearl, Phillip L

Tokatly Latzer, Itay; Roullet, Jean-Baptiste; Gibson, K Michael; Pearl, Phillip L.

Afiliação

Tokatly Latzer I; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Roullet JB; Sackler Faculty of Medicine, Tel-Aviv University, Tel Aviv, Israel.
Gibson KM; Department of Pharmacotherapy, College of Pharmacy and Pharmaceutical Sciences, Washington State University, Spokane, Washington, USA.
Pearl PL; Department of Pharmacotherapy, College of Pharmacy and Pharmaceutical Sciences, Washington State University, Spokane, Washington, USA.

J Inherit Metab Dis ; 46(5): 992-1003, 2023 09.

Article em En | MEDLINE | ID: mdl-37219411

Assuntos

Erros Inatos do Metabolismo dos Aminoácidos; Epilepsia; Feminino; Masculino; Humanos; Erros Inatos do Metabolismo dos Aminoácidos/genética; Deficiências do Desenvolvimento/genética; Succinato-Semialdeído Desidrogenase; Epilepsia/diagnóstico; Epilepsia/genética

Palavras-chave

ALDH5A1; GABA; SSADHD; neurometabolic; severity; validation

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Epilepsia / Erros Inatos do Metabolismo dos Aminoácidos Tipo de estudo: Diagnostic_studies Limite: Female / Humans / Male Idioma: En Ano de publicação: 2023 Tipo de documento: Article

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