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N-Glycanase 1 Deficiency Is a Rare Cause of Pediatric Neurodegeneration With Neuronal Inclusions and Liver Steatosis
Pediatric neurodegeneration is extremely rare and devastating to the families involved. We describe a rare case of pediatric neurodegeneration in a child with N-glycanase 1 (NGLY1) deficiency. This child had an autosomal recessive mutation in NGLY1, the gene coding for the enzyme NGLY1 that was foun...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Cureus
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8614178/ https://www.ncbi.nlm.nih.gov/pubmed/34858763 http://dx.doi.org/10.7759/cureus.19126 |