Huizing et al. Page 14 [16]. Aula P, Raivio K, Autio S, Thoden CE, Rapola J, Koskela SL, Yamashina I, Four patients with a A new lysosomal storage disorder (Salla disease), Monogr Hum Genet 10 (1978) 16–22. [PubMed: uthor Man 723890] [17]. Kleta R, Morse RP, Orvisky E, Krasnewich D, Alroy J, Ucci AA, Bernardini I, Wenger DA, Gahl WA, Clinical, biochemical, and molecular diagnosis of a free sialic acid storage disease patient of moderate severity, Mol Genet Metab 82 (2004) 137–143. [PubMed: 15172001] uscr [18]. Kleta R, Aughton DJ, Rivkin MJ, Huizing M, Strovel E, Anikster Y, Orvisky E, Natowicz M, Krasnewich D, Gahl WA, Biochemical and molecular analyses of infantile free sialic acid storage ipt disease in North American children, Am J Med Genet A 120A (2003) 28–33. [PubMed: 12794688] [19]. Lemyre E, Russo P, Melancon SB, Gagne R, Potier M, Lambert M, Clinical spectrum of infantile free sialic acid storage disease, Am J Med Genet 82 (1999) 385–391. [PubMed: 10069709] [20]. Kaufmann P, Pariser AR, Austin C, From scientific discovery to treatments for rare diseases - the view from the National Center for Advancing Translational Sciences - Office of Rare Diseases Research, Orphanet J Rare Dis 13 (2018) 196. [PubMed: 30400963] A [21]. Thompson PW, “Developing new treatments in partnership for Primary Mitochondrial Disease: uthor Man what does industry need from academics, and what do academics need from industry?”, J Inherit Metab Dis Online ahead of print (2020) doi: 10.1002/jimd.12326. [22]. Ottinger EA, Kao ML, Carrillo-Carrasco N, Yanjanin N, Shankar RK, Janssen M, Brewster M, Scott I, Xu X, Cradock J, Terse P, Dehdashti SJ, Marugan J, Zheng W, Portilla L, Hubbs A, Pavan WJ, Heiss J, Vite CH, Walkley SU, Ory DS, Silber SA, Porter FD, Austin CP, McKew JC, uscr Collaborative development of 2-hydroxypropyl-beta-cyclodextrin for the treatment of Niemann- Pick type C1 disease, Curr Top Med Chem 14 (2014) 330–339. [PubMed: 24283970] ipt [23]. Schleutker J, Leppanen P, Mansson JE, Erikson A, Weissenbach J, Peltonen L, Aula P, Lysosomal free sialic acid storage disorders with different phenotypic presentations--infantile-form sialic acid storage disease and Salla disease--represent allelic disorders on 6q14-15, Am J Hum Genet 57 (1995) 893–901. [PubMed: 7573051] [24]. van den Bosch J, Oemardien LF, Srebniak MI, Piraud M, Huijmans JG, Verheijen FW, Ruijter GJ, Prenatal screening of sialic acid storage disease and confirmation in cultured fibroblasts by LC-MS/MS, J Inherit Metab Dis 34 (2011) 1069–1073. [PubMed: 21617927] A [25]. Simila S, Linna SL, Vayrynen M, Autio-Harmainen H, von Wendt L, Ruokonen A, Finnish type uthor Man of sialic acid storage disease with sialuria (Salla disease): the occurrence and diagnostic significance of cytoplasmic vacuoles in blood lymphocytes, J Ment Defic Res 29 (Pt 2) (1985) 179–186. [PubMed: 4032465] [26]. Montreuil J, Biserte G, Strecker G, Spik G, Fontaine G, Farriaux JP, [Description of a new type uscr of melituria, called sialuria], Clin Chim Acta 21 (1968) 61–69. [PubMed: 5658957] [27]. Leroy JG, Seppala R, Huizing M, Dacremont G, De Simpel H, Van Coster RN, Orvisky E, ipt Krasnewich DM, Gahl WA, Dominant inheritance of sialuria, an inborn error of feedback inhibition, Am J Hum Genet 68 (2001) 1419–1427. [PubMed: 11326336] [28]. Varki A, Sialic acids in human health and disease, Trends Mol Med 14 (2008) 351–360. [PubMed: 18606570] [29]. Schauer R, Kamerling JP, Exploration of the Sialic Acid World, Adv Carbohydr Chem Biochem 75 (2018) 1–213. [PubMed: 30509400] [30]. Varki A, Diversity in the sialic acids, Glycobiology 2 (1992) 25–40. [PubMed: 1550987] A [31]. Hinderlich S, Weidemann W, Yardeni T, Horstkorte R, Huizing M, UDP-GlcNAc 2-Epimerase/ uthor Man ManNAc Kinase (GNE): A Master Regulator of Sialic Acid Synthesis, Top Curr Chem 366 (2015) 97–137. [PubMed: 23842869] [32]. Kean EL, Munster-Kuhnel AK, Gerardy-Schahn R, CMP-sialic acid synthetase of the nucleus, Biochim Biophys Acta 1673 (2004) 56–65. [PubMed: 15238249] [33]. Seppala R, Lehto VP, Gahl WA, Mutations in the human UDP-N-acetylglucosamine 2-epimerase uscr gene define the disease sialuria and the allosteric site of the enzyme, Am J Hum Genet 64 (1999) 1563–1569. [PubMed: 10330343] ipt [34]. Kornfeld S, Kornfeld R, Neufeld EF, O’Brien PJ, The Feedback Control of Sugar Nucleotide Biosynthesis in Liver, Proc Natl Acad Sci U S A 52 (1964) 371–379. [PubMed: 14206604] Neurosci Lett. Author manuscript; available in PMC 2021 June 11.
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