Progressive encephalopathy associated with novel compound heterozygous NAXE mutations in a Chinese patient: case report and literature review
BackgroundNAD(P)HX epimerase (NAXE) deficiency is a rare, often fatal, autosomal recessive neurometabolic disorder of early childhood, characterized by acute neurological regression triggered by febrile illness. Here, we report a case with compound heterozygous NAXE mutations (c.733A > C and c.38...
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| Asıl Yazarlar: | , , , |
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| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
Frontiers Media S.A.
2026-02-01
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| Seri Bilgileri: | Frontiers in Pediatrics |
| Konular: | |
| Online Erişim: | https://www.frontiersin.org/articles/10.3389/fped.2026.1766864/full |
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