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...

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Detalles Bibliográficos
Autores principales: Atwal, Paldeep S., Midei, Mark, Adams, Darius, Fay, Alexander, Heerinckx, Frederic, Milner, Peter
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research
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

Internet

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

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