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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...
Tallennettuna:
| Julkaisussa: | Orphanet J Rare Dis |
|---|---|
| Päätekijät: | , , , , , |
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
BioMed Central
2020
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| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7392694/ https://ncbi.nlm.nih.gov/pubmed/32727524 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-020-01479-5 |
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