Genetic defect of the sodium-dependent multivitamin transporter: A treatable disease, mimicking biotinidase deficiency.

Schwantje, Marit; de Sain-van der Velden, Monique; Jans, Judith; van Gassen, Koen; Dorrepaal, Charlotte; Koop, Klaas; Visser, Gepke.

Afiliação

Schwantje M; Department of Genetics University Medical Center Utrecht Utrecht The Netherlands.
de Sain-van der Velden M; Department of Metabolic Diseases Wilhelmina Children's Hospital, University Medical Center Utrecht Utrecht the Netherlands.
Jans J; Department of Genetics University Medical Center Utrecht Utrecht The Netherlands.
van Gassen K; Department of Genetics University Medical Center Utrecht Utrecht The Netherlands.
Dorrepaal C; Department of Genetics University Medical Center Utrecht Utrecht The Netherlands.
Koop K; Department of Pediatrics St. Antonius Hospital Woerden The Netherlands.
Visser G; Department of Metabolic Diseases Wilhelmina Children's Hospital, University Medical Center Utrecht Utrecht the Netherlands.

JIMD Rep ; 48(1): 11-14, 2019 Jul.

Article em En | MEDLINE | ID: mdl-31392107

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