Dataset from dried blood spot acylcarnitine for detection of Carnitine-Acylcarnitine Translocase (CACT) deficiency and Carnitine Palmitoyl Transferase 2 (CPT2) deficiency
Clinical diagnosis of inborn errors of metabolism in the suspected patients is usually guided by the initial general investigations in the laboratory such as the concentration of ammonia, blood gases status, blood glucose and ketones. The establishment of a biochemical diagnosis in patients with inb...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2023-06-01
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| Series: | Data in Brief |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2352340923002093 |