[13C]‐galactose breath test in a patient with galactokinase deficiency and spastic diparesis
Abstract 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...
| Main Authors: | , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2021-05-01
|
| Series: | JIMD Reports |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/jmd2.12205 |