Comment on

• Unraveling the molecular pathogenesis of free sialic acid storage disorders: altered targeting of mutant sialin.

  Aula N, Jalanko A, Aula P, Peltonen L. Aula N, et al. Mol Genet Metab. 2002 Sep-Oct;77(1-2):99-107. doi: 10.1016/s1096-7192(02)00124-5. Mol Genet Metab. 2002. PMID: 12359136
• A novel mutation in the SLC17A5 gene causing both severe and mild phenotypes of free sialic acid storage disease in one inbred Bedouin kindred.

  Landau D, Cohen D, Shalev H, Pinsk V, Yerushalmi B, Zeigler M, Birk OS. Landau D, et al. Mol Genet Metab. 2004 Jun;82(2):167-72. doi: 10.1016/j.ymgme.2004.03.005. Mol Genet Metab. 2004. PMID: 15172005