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The infantile neuroaxonal dystrophy rating scale (INAD-RS)
BACKGROUND: INAD is an autosomal recessive neurogenetic disorder caused by biallelic pathogenic variants in PLA2G6. The downstream enzyme, iPLA(2), plays a critical role in cell membrane homeostasis by helping to regulate levels of phospholipids. The clinical presentation occurs between 6 months and...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2020
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7392694/ https://www.ncbi.nlm.nih.gov/pubmed/32727524 http://dx.doi.org/10.1186/s13023-020-01479-5 |