Carnitine-acylcarnitine translocase deficiency caused by gene heterozygous variants in twins: a case report
The current case report describes the clinical, biochemical and genetic characteristics of carnitine-acylcarnitine translocase deficiency (CACTD) in infant male and female twins that presented with symptoms shortly after elective caesarean delivery. The clinical manifestations were neonatal hypoglyc...
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| Glavni autori: | , , , , , , , , |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
SAGE Publishing
2023-04-01
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| Serija: | Journal of International Medical Research |
| Online pristup: | https://doi.org/10.1177/03000605231163811 |
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