1. Disease manifestations and burden of illness in patients with acid sphingomyelinase deficiency (ASMD);McGovern;Orphanet J Rare Dis,2017
2. GeneReviews.org: Wasserstein M.P., Schuchman E.H. Acid sphingomyelinase deficiency. 2006 Dec 7 [Updated 2023 April 27]. In: Adam M.P., Mirzaa G.M., Pagon R.A., et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1370/.
3. Patterson M. Niemann-Pick disease type C. 2000 Jan 26 [Updated 2020 Dec 10]. In: Adam M.P., Mirzaa G.M., Pagon R.A., et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1296/.
4. Niemann-Pick type A disease with new mutation: a case report;Aghamahdi;J Med Case Rep,2022
5. Compound heterozygote mutation in the SMPD1 gene leading to Nieman-Pick disease type A;Kavčič;Am J Case Rep,2022