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[(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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Detalhes bibliográficos
Publicado no:JIMD Rep
Main Authors: Ficicioglu, Can, Demirbas, Didem, Derks, Britt, Pai, G. Shashidhar, Timson, David J., Rubio‐Gozalbo, Maria Estela, Berry, Gerard T.
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley & Sons, Inc. 2021
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8100398/
https://ncbi.nlm.nih.gov/pubmed/33977035
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jmd2.12205
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