Gaucher disease – more than just a rare lipid storage disease
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Drug Discovery,Molecular Medicine
Link
https://link.springer.com/content/pdf/10.1007/s00109-021-02174-z.pdf
Reference237 articles.
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3. Weinreb NJ, Brady RO, Tappel AL (1968) The lysosomal localization of sphingolipid hydrolases. Biochim Biophys Acta 159:141–146. https://doi.org/10.1016/0005-2744(68)90251-9
4. Grabowski GA, Antommaria AHM, Kolodny EH, Mistry PK (2021) Gaucher disease: basic and translational science needs for more complete therapy and management. Mol Genet Metab 132: 59-75. https://doi.org/10.1016/j.ymgme.2020.12.291
5. Andrade-Campos MM, de Frutos LL, Cebolla JJ, Serrano-Gonzalo I, Medrano-Engay B, Roca-Espiau M, Gomez-Barrera B, Pérez-Heredia J, Iniguez D, Giraldo P (2020) Identification of risk features for complication in Gaucher’s disease patients: a machine learning analysis of the Spanish registry of Gaucher disease. Orphanet J Rare Dis 15:256. https://doi.org/10.1186/s13023-020-01520-7
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