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.

Afiliación

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 en En | MEDLINE | ID: mdl-31808946

Asunto(s)

Galactosemias/genética; Galactosemias/fisiopatología; Animales; Modelos Animales de Enfermedad; Galactoquinasa/genética; Galactoquinasa/metabolismo; Galactosa/metabolismo; Galactosemias/metabolismo; Galactosemias/terapia; Genotipo; Humanos; Estrés Oxidativo; Fenotipo; UDPglucosa 4-Epimerasa/genética; UDPglucosa 4-Epimerasa/metabolismo; UTP-Hexosa-1-Fosfato Uridililtransferasa/genética; UTP-Hexosa-1-Fosfato Uridililtransferasa/metabolismo

Palabras clave

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

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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Galactosemias Tipo de estudio: Prognostic_studies / Systematic_reviews Idioma: En Revista: J Inherit Metab Dis Año: 2020 Tipo del documento: Article País de afiliación: Países Bajos

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