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.

Afiliação

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 em En | MEDLINE | ID: mdl-34391645

Assuntos

Alelos; Desenvolvimento Infantil; Galactosemias/classificação; Galactosemias/genética; Variação Genética; Pré-Escolar; Feminino; Galactosemias/fisiopatologia; Genótipo; Humanos; Lactente; Masculino; Transtornos do Neurodesenvolvimento/etiologia; Transtornos do Neurodesenvolvimento/genética; Fenótipo; Estudos Retrospectivos; UTP-Hexose-1-Fosfato Uridililtransferase/genética

Palavras-chave

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

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variação Genética / Desenvolvimento Infantil / Alelos / Galactosemias Tipo de estudo: Etiology_studies / Observational_studies / Risk_factors_studies Limite: Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Mol Genet Metab Assunto da revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Ano de publicação: 2021 Tipo de documento: Article

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