Time course of serum neuron-specific enolase levels from infancy to early adulthood in a female patient with beta-propeller protein-associated neurodegeneration.

Hirano, Shodo; Suzuki, Yasuhiro; Ikeda, Tae; Okamoto, Nobuhiko

Hirano, Shodo; Suzuki, Yasuhiro; Ikeda, Tae; Okamoto, Nobuhiko.

Afiliação

Hirano S; Department of Pediatric Neurology, Osaka Women's and Children's Hospital, Osaka, Japan.
Suzuki Y; Department of Pediatric Neurology, Osaka Women's and Children's Hospital, Osaka, Japan.
Ikeda T; Department of Pediatric Neurology, Osaka Women's and Children's Hospital, Osaka, Japan.
Okamoto N; Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, Japan.

Am J Med Genet A ; 191(5): 1384-1387, 2023 05.

Article em En | MEDLINE | ID: mdl-36750760

Assuntos

Distúrbios do Metabolismo do Ferro; Distrofias Neuroaxonais; Criança; Adolescente; Humanos; Feminino; Lactente; Adulto; Adulto Jovem; Proteínas de Transporte; Distrofias Neuroaxonais/diagnóstico; Distrofias Neuroaxonais/genética; Fosfopiruvato Hidratase/genética; Convulsões

Palavras-chave

BPAN; and WDR45; beta-propeller protein-associated neurodegeneration; neuron-specific enolase

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Distrofias Neuroaxonais / Distúrbios do Metabolismo do Ferro Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Female / Humans / Infant Idioma: En Ano de publicação: 2023 Tipo de documento: Article

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