Case Report: Incidental diagnosis of cystic fibrosis via whole genome sequencing alters HSCT planning in a child with cerebral X-linked adrenoleukodystrophy
Cerebral X-linked adrenoleukodystrophy (cALD) is an X-linked peroxisomal disorder caused by pathogenic variation in the ABCD1 gene, characterized by progressive central nervous system demyelination leading to severe neurocognitive decline, as well as concomitant adrenal insufficiency resulting from...
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| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Frontiers Media S.A.
2025-08-01
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| Series: | Frontiers in Pediatrics |
| Subjects: | |
| Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2025.1650645/full |
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