Transient developmental delays in infants with Duarte-2 variant galactosemia.

Waisbren, Susan E; Tran, Catherine; Demirbas, Didem; Gubbels, Cynthia S; Hsiao, Margaret; Daesety, Vikram; Berry, Gerard T

Waisbren, Susan E; Tran, Catherine; Demirbas, Didem; Gubbels, Cynthia S; Hsiao, Margaret; Daesety, Vikram; Berry, Gerard T.

Afiliación

Waisbren SE; Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States of America. Electronic address: susan.waisbren@childrens.harvard.edu.
Tran C; Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States of America.
Demirbas D; Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States of America.
Gubbels CS; Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States of America.
Hsiao M; Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States of America.
Daesety V; Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States of America.
Berry GT; Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States of America. Electronic address: gerard.berry@childrens.harvard.edu.

Mol Genet Metab ; 134(1-2): 132-138, 2021.

Article en En | MEDLINE | ID: mdl-34391645

Asunto(s)

Alelos; Desarrollo Infantil; Galactosemias/clasificación; Galactosemias/genética; Variación Genética; Preescolar; Femenino; Galactosemias/fisiopatología; Genotipo; Humanos; Lactante; Masculino; Trastornos del Neurodesarrollo/etiología; Trastornos del Neurodesarrollo/genética; Fenotipo; Estudios Retrospectivos; UTP-Hexosa-1-Fosfato Uridililtransferasa/genética

Palabras clave

Duarte variant galactosemia; GALT deficiency; Special services; Speech and language development

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Variación Genética / Desarrollo Infantil / Alelos / Galactosemias Tipo de estudio: Etiology_studies / Observational_studies / Risk_factors_studies Límite: Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Mol Genet Metab Asunto de la revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Año: 2021 Tipo del documento: Article

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