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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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| Izdano u: | JIMD Rep |
|---|---|
| Glavni autori: | , , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
John Wiley & Sons, Inc.
2021
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| 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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