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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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Publicat a:JIMD Rep
Autors principals: Ficicioglu, Can, Demirbas, Didem, Derks, Britt, Pai, G. Shashidhar, Timson, David J., Rubio‐Gozalbo, Maria Estela, Berry, Gerard T.
Format: Artigo
Idioma:Inglês
Publicat: John Wiley & Sons, Inc. 2021
Matèries:
Accés en línia: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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