A novel mutation in two Spanish children with Niemann Pick disease: description of genotype, sphingomyelinase activity, phenotype and review
| Main Authors: | , , , , , |
|---|---|
| Format: | Article |
| Language: | Spanish |
| Published: |
Elsevier
2021-05-01
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| Series: | Anales de Pediatría (English Edition) |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2341287920301344 |