How a baby with classic galactosemia was nearly missed: When the test succeeds but system fails.

Viall, Sarah; Calhoun, Amy; Mew, Nicholas Ah; Tarini, Beth A

Viall, Sarah; Calhoun, Amy; Mew, Nicholas Ah; Tarini, Beth A.

Afiliação

Viall S; Rare Disease Institute, Children's National Hospital, Washington, District of Columbia, USA.
Calhoun A; Department of Pediatrics, Carver College of Medicine, University of Iowa, Iowa City, Iowa, USA.
Mew NA; Rare Disease Institute, Children's National Hospital, Washington, District of Columbia, USA.
Tarini BA; Center for Translational Research, Children's National Research Institute, Children's National Medical Center, Washington, District of Columbia, USA.

Am J Med Genet A ; 182(7): 1750-1753, 2020 07.

Article em En | MEDLINE | ID: mdl-32275121

Assuntos

Galactosemias/diagnóstico; Triagem Neonatal; Saúde Pública; Galactosemias/epidemiologia; Galactosemias/genética; Humanos; Lactente; Recém-Nascido

Palavras-chave

galactosemia; newborn screening; public health; system

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Limite: Humans / Infant / Newborn Idioma: En Ano de publicação: 2020 Tipo de documento: Article

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