1. Feldhammer, Matthew, Durand, Stéphanie, Mrázová, Lenka, Kmoch, Stanislav, Pshezhetsky, Alexey V. . Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT) gene. In Human mutation, 30, 918-25. doi:10.1002/humu.20986. https://pubmed.ncbi.nlm.nih.gov/19479962/
2. Schiff, Elena R, Daich Varela, Malena, Robson, Anthony G, Hufnagel, Robert B, Webster, Andrew R. 2020. A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT, the gene associated with Sanfilippo C mucopolysaccharidosis. In American journal of medical genetics. Part C, Seminars in medical genetics, 184, 631-643. doi:10.1002/ajmg.c.31822. https://pubmed.ncbi.nlm.nih.gov/32770643/
3. Liang, Yingjun, Gao, Xiaolan, Lu, Deyun, Zhang, Huiwen. 2023. Mucopolysaccharidosis type IIIC in chinese mainland: clinical and molecular characteristics of ten patients and report of six novel variants in the HGSNAT gene. In Metabolic brain disease, 38, 2013-2023. doi:10.1007/s11011-023-01204-8. https://pubmed.ncbi.nlm.nih.gov/37014526/
4. Conte, Federica, Sam, Juda-El, Lefeber, Dirk J, Passier, Robert. 2023. Metabolic Cardiomyopathies and Cardiac Defects in Inherited Disorders of Carbohydrate Metabolism: A Systematic Review. In International journal of molecular sciences, 24, . doi:10.3390/ijms24108632. https://pubmed.ncbi.nlm.nih.gov/37239976/
5. Fedele, Anthony O, Hopwood, John J. . Functional analysis of the HGSNAT gene in patients with mucopolysaccharidosis IIIC (Sanfilippo C Syndrome). In Human mutation, 31, E1574-86. doi:10.1002/humu.21286. https://pubmed.ncbi.nlm.nih.gov/20583299/
6. Richtrova, Eva, Mrazova, Lenka S, Musalkova, Dita, Jirsa, Milan, Hrebicek, Martin. 2016. HGSNAT has a TATA-less promoter with multiple starts of transcription. In Gene, 592, 36-42. doi:10.1016/j.gene.2016.07.051. https://pubmed.ncbi.nlm.nih.gov/27452122/
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