Galactose epimerase deficiency: lessons from the GalNet registry

BACKGROUND: Galactose epimerase (GALE) deficiency is a rare hereditary disorder of galactose metabolism with only a few cases described in the literature. This study aims to present the data of patients with GALE deficiency from different countries included through the Galactosemia Network to furthe...

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Detalles Bibliográficos
Autores principales: Derks, Britt, Demirbas, Didem, Arantes, Rodrigo R., Banford, Samantha, Burlina, Alberto B., Cabrera, Analía, Chiesa, Ana, Couce, M. Luz, Dionisi-Vici, Carlo, Gautschi, Matthias, Grünewald, Stephanie, Morava, Eva, Möslinger, Dorothea, Scholl-Bürgi, Sabine, Skouma, Anastasia, Stepien, Karolina M., Timson, David J., Berry, Gerard T., Rubio-Gozalbo, M. Estela
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9438182/
https://www.ncbi.nlm.nih.gov/pubmed/36056436
http://dx.doi.org/10.1186/s13023-022-02494-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9438182/
https://www.ncbi.nlm.nih.gov/pubmed/36056436
http://dx.doi.org/10.1186/s13023-022-02494-4

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