Sphingolipidosis, Tidak Terspesifikasi (E75.3): Tinjauan Komprehensif

1. Futerman AH, van Meer G. The cell biology of lysosomal storage disorders. Nat Rev Mol Cell Biol. 2004;5(7):554-565.

2. Walkley SU. Pathogenic mechanisms in lysosomal disease: A reappraisal of the role of the lysosome. Acta Paediatr. 2007;96(S455):26-32.

3. Platt FM. Sphingolipid storage disorders. Nature. 2018;557(7703):94-97.

4. Schuchman EH, Desnick RJ. Types A and B Niemann-Pick disease. Mol Genet Metab. 2017;120(1-2):27-33.

5. Cox TM. Gaucher disease: Clinical profile and therapeutic developments. Biologics. 2020;14:61-77.

6. Desnick RJ, Ioannou YA, Eng CM. Alpha-galactosidase A deficiency: Fabry disease. In: Valle D, et al., eds. The Online Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill; 2014.

7. Gravel RA, Kaback MM, Proia RL, et al. The GM2 gangliosidoses. In: Scriver CR, et al., eds. The Metabolic and Molecular Bases of Inherited Disease. 8th ed. McGraw-Hill; 2001:3827-3876.

8. Patterson MC, et al. Recommendations for the diagnosis and management of Niemann-Pick disease type B and C. Orphanet J Rare Dis. 2020;15(1):1-28.