Cited by

• Diagnosing neuronopathic Gaucher disease: New considerations and challenges in assigning Gaucher phenotypes.

  Daykin EC, Ryan E, Sidransky E. Daykin EC, et al. Mol Genet Metab. 2021 Feb;132(2):49-58. doi: 10.1016/j.ymgme.2021.01.002. Epub 2021 Jan 9. Mol Genet Metab. 2021. PMID: 33483255 Free PMC article. Review.
• Alterations of Ultra Long-Chain Fatty Acids in Hereditary Skin Diseases-Review Article.

  Zwara A, Wertheim-Tysarowska K, Mika A. Zwara A, et al. Front Med (Lausanne). 2021 Aug 23;8:730855. doi: 10.3389/fmed.2021.730855. eCollection 2021. Front Med (Lausanne). 2021. PMID: 34497816 Free PMC article.
• Factors influencing survival in sphingosine phosphate lyase insufficiency syndrome: a retrospective cross-sectional natural history study of 76 patients.

  Keller N, Midgley J, Khalid E, Lesmana H, Mathew G, Mincham C, Teig N, Khan Z, Khosla I, Mehr S, Guran T, Buder K, Xu H, Alhasan K, Buyukyilmaz G, Weaver N, Saba JD. Keller N, et al. Orphanet J Rare Dis. 2024 Sep 27;19(1):355. doi: 10.1186/s13023-024-03311-w. Orphanet J Rare Dis. 2024. PMID: 39334450 Free PMC article.
• Cytogenetic and molecular analysis of distal 4q duplication with distinctive phenotype using single-nucleotide polymorphism array.

  Zhuang J, Zhang N, Fu W, Yao J, Li Y, Zeng S, Wang Y, Xie Y, Jiang Y. Zhuang J, et al. Mol Cytogenet. 2021 Sep 29;14(1):46. doi: 10.1186/s13039-021-00568-9. Mol Cytogenet. 2021. PMID: 34587985 Free PMC article.
• Glucocerebrosidase: Functions in and Beyond the Lysosome.

  Boer DEC, van Smeden J, Bouwstra JA, Aerts JMFG. Boer DEC, et al. J Clin Med. 2020 Mar 9;9(3):736. doi: 10.3390/jcm9030736. J Clin Med. 2020. PMID: 32182893 Free PMC article. Review.