N-Acetylneuraminic Acid Storage Disease
Author:
Publisher
Springer International Publishing
Link
https://link.springer.com/content/pdf/10.1007/978-3-319-66816-1_1776-1
Reference17 articles.
1. Adams D, Wasserstein M (2020) Free sialic acid storage disorders. University of Washington, Seattle
2. Aula N, Aula P (2006) Prenatal diagnosis of free sialic acid storage disorders (SASD). Prenatal Diagn 26:655–658. https://doi.org/10.1002/pd.1431
3. Aula N et al (2000) The spectrum of SLC17A5-gene mutations resulting in free sialic acid–storage diseases indicates some genotype-phenotype correlation. Am J Hum Genet 67:832–840
4. Champaigne NL et al (2016) New observation of sialuria prompts detection of liver tumor in previously reported patient. Mol Genet Metab 118:92–99. https://doi.org/10.1016/j.ymgme.2016.04.004
5. Consortium F et al (2021) Free sialic acid storage disorder: Progress and promise. Neurosci Lett:755. https://doi.org/10.1016/j.neulet.2021.135896
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