[(13)C]‐galactose breath test in a patient with galactokinase deficiency and spastic diparesis

Galactokinase deficiency is an inborn error of carbohydrate metabolism due to a block in the formation of galactose‐1‐phosphate from galactose. Although the association of galactokinase deficiency with formation of cataracts is well established, the extent of the clinical phenotype is still under in...

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Detalles Bibliográficos
Autores principales: Ficicioglu, Can, Demirbas, Didem, Derks, Britt, Pai, G. Shashidhar, Timson, David J., Rubio‐Gozalbo, Maria Estela, Berry, Gerard T.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2021
Materias:
Research Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8100398/
https://www.ncbi.nlm.nih.gov/pubmed/33977035
http://dx.doi.org/10.1002/jmd2.12205

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8100398/
https://www.ncbi.nlm.nih.gov/pubmed/33977035
http://dx.doi.org/10.1002/jmd2.12205

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