Apparent Acetaminophen Toxicity in a Patient with Transaldolase Deficiency.

Lee-Barber, Jasmine; English, Taylor E; Britton, Jacquelyn F; Sobreira, Nara; Goldstein, Jason; Valle, David; Bjornsson, Hans Tomas.

Afiliação

Lee-Barber J; Department of Pediatrics, The Johns Hopkins University, Baltimore, MD, USA.
English TE; McKusick-Nathans Institute of Genetic Medicine, The Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Britton JF; Russell H. Morgan Department of Radiology and Radiological Science, The Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Sobreira N; McKusick-Nathans Institute of Genetic Medicine, The Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Goldstein J; Department of Pediatrics, The Johns Hopkins University, Baltimore, MD, USA.
Valle D; McKusick-Nathans Institute of Genetic Medicine, The Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Bjornsson HT; Pavilion Pediatrics, Lutherville, MD, USA.

JIMD Rep ; 44: 9-15, 2019.

Article em En | MEDLINE | ID: mdl-29923087

Palavras-chave

Acetaminophen; Actionable genetic disorders; Pentose phosphate pathway; Transaldolase deficiency; Treatment of genetic diseases; Whole exome sequencing

Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2019 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2019 Tipo de documento: Article