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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...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley & Sons, Inc.
2021
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| Materias: | |
| 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 |