Pathophysiology and targets for treatment in hereditary galactosemia: A systematic review of animal and cellular models.

Haskovic, Minela; Coelho, Ana I; Bierau, Jörgen; Vanoevelen, Jo M; Steinbusch, Laura K M; Zimmermann, Luc J I; Villamor-Martinez, Eduardo; Berry, Gerard T; Rubio-Gozalbo, M Estela

Haskovic, Minela; Coelho, Ana I; Bierau, Jörgen; Vanoevelen, Jo M; Steinbusch, Laura K M; Zimmermann, Luc J I; Villamor-Martinez, Eduardo; Berry, Gerard T; Rubio-Gozalbo, M Estela.

Afiliação

Haskovic M; Department of Pediatrics, Maastricht University Medical Center+, Maastricht, The Netherlands.
Coelho AI; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, The Netherlands.
Bierau J; GROW-School for Oncology and Developmental Biology, Maastricht University, Maastricht, The Netherlands.
Vanoevelen JM; Department of Pediatrics, Maastricht University Medical Center+, Maastricht, The Netherlands.
Steinbusch LKM; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, The Netherlands.
Zimmermann LJI; GROW-School for Oncology and Developmental Biology, Maastricht University, Maastricht, The Netherlands.
Villamor-Martinez E; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, The Netherlands.
Berry GT; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, The Netherlands.
Rubio-Gozalbo ME; GROW-School for Oncology and Developmental Biology, Maastricht University, Maastricht, The Netherlands.

J Inherit Metab Dis ; 43(3): 392-408, 2020 05.

Article em En | MEDLINE | ID: mdl-31808946

Assuntos

Galactosemias/genética; Galactosemias/fisiopatologia; Animais; Modelos Animais de Doenças; Galactoquinase/genética; Galactoquinase/metabolismo; Galactose/metabolismo; Galactosemias/metabolismo; Galactosemias/terapia; Genótipo; Humanos; Estresse Oxidativo; Fenótipo; UDPglucose 4-Epimerase/genética; UDPglucose 4-Epimerase/metabolismo; UTP-Hexose-1-Fosfato Uridililtransferase/genética; UTP-Hexose-1-Fosfato Uridililtransferase/metabolismo

Palavras-chave

animal models; cellular models; hereditary galactosemia; pathophysiology; treatment targets

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Galactosemias Tipo de estudo: Prognostic_studies / Systematic_reviews Limite: Animals / Humans Idioma: En Revista: J Inherit Metab Dis Ano de publicação: 2020 Tipo de documento: Article

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