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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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Bibliografski detalji
Izdano u:JIMD Rep
Glavni autori: Ficicioglu, Can, Demirbas, Didem, Derks, Britt, Pai, G. Shashidhar, Timson, David J., Rubio‐Gozalbo, Maria Estela, Berry, Gerard T.
Format: Artigo
Jezik:Inglês
Izdano: John Wiley & Sons, Inc. 2021
Teme:
Online pristup: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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