Enhanced differentiation between 3‐hydroxyglutaric and 2‐hydroxyglutaric acids facilitates diagnostic testing for glutaric aciduria type 1
Abstract Glutaric aciduria type 1 (GA1) is an inherited neurometabolic disorder, in which deficiency of glutaryl‐CoA dehydrogenase leads to accumulation of glutaric acid (GA) and 3‐hydroxyglutaric acid (3‐HG). Some low excretors may exhibit only slight elevation of urinary 3‐HG, with normal urinary...
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| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wiley
2024-11-01
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| Series: | JIMD Reports |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/jmd2.12447 |
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