Huizing et al. Page 16 [52]. Haverkamp J, van Halbeek H, Dorland L, Vliegenthart JF, Pfeil R, Schauer R, High-resolution A 1H-NMR spectroscopy of free and glycosidically linked O-acetylated sialic acids, Eur J Biochem uthor Man 122 (1982) 305–311. [PubMed: 7060578] [53]. Renlund M, Chester MA, Lundblad A, Parkkinen J, Krusius T, Free N-acetylneuraminic acid in tissues in Salla disease and the enzymes involved in its metabolism, Eur J Biochem 130 (1983) 39–45. [PubMed: 6297896] uscr [54]. Humbel R, Collart M, Oligosaccharides in urine of patients with glycoprotein storage diseases. I. Rapid detection by thin-layer chromatography, Clin Chim Acta 60 (1975) 143–145. [PubMed: ipt 1126036] [55]. Rohrer JS, Thayer J, Weitzhandler M, Avdalovic N, Analysis of the N-acetylneuraminic acid and N-glycolylneuraminic acid contents of glycoproteins by high-pH anion-exchange chromatography with pulsed amperometric detection, Glycobiology 8 (1998) 35–43. [PubMed: 9451012] [56]. van der Ham M, Prinsen BH, Huijmans JG, Abeling NG, Dorland B, Berger R, de Koning TJ, de MG Sain-van der Velden, Quantification of free and total sialic acid excretion by LC-MS/MS, J Chromatogr B Analyt Technol Biomed Life Sci 848 (2007) 251–257. A uthor Man [57]. Hohenfellner K, Bergmann C, Fleige T, Janzen N, Burggraf S, Olgemoller B, Gahl WA, Czibere L, Froschauer S, Roschinger W, Vill K, Harms E, Nennstiel U, Molecular based newborn screening in Germany: Follow-up for cystinosis, Mol Genet Metab Rep 21 (2019) 100514. [PubMed: 31641587] [58]. Mochel F, Yang B, Barritault J, Thompson JN, Engelke UF, McNeill NH, Benko WS, Kaneski uscr CR, Adams DR, Tsokos M, Abu-Asab M, Huizing M, Seguin F, Wevers RA, Ding J, Verheijen FW, Schiffmann R, Free sialic acid storage disease without sialuria, Ann Neurol 65 (2009) 753– ipt 757. [PubMed: 19557856] [59]. Wreden CC, Wlizla M, Reimer RJ, Varied mechanisms underlie the free sialic acid storage disorders, J Biol Chem 280 (2005) 1408–1416. [PubMed: 15516337] [60]. Sagne C, Gasnier B, Molecular physiology and pathophysiology of lysosomal membrane transporters, J Inherit Metab Dis 31 (2008) 258–266. [PubMed: 18425435] [61]. Seppala R, Tietze F, Krasnewich D, Weiss P, Ashwell G, Barsh G, Thomas GH, Packman S, Gahl WA, Sialic acid metabolism in sialuria fibroblasts, J Biol Chem 266 (1991) 7456–7461. A [PubMed: 2019577] uthor Man [62]. Varho TT, Alajoki LE, Posti KM, Korhonen TT, Renlund MG, Nyman SR, Sillanpaa ML, Aula PP, Phenotypic spectrum of Salla disease, a free sialic acid storage disorder, Pediatr Neurol 26 (2002) 267–273. [PubMed: 11992753] [63]. Landau D, Cohen D, Shalev H, Pinsk V, Yerushalmi B, Zeigler M, Birk OS, A novel mutation in uscr the SLC17A5 gene causing both severe and mild phenotypes of free sialic acid storage disease in one inbred Bedouin kindred, Mol Genet Metab 82 (2004) 167–172. [PubMed: 15172005] ipt [64]. Robak LA, Jansen IE, van Rooij J, Uitterlinden AG, Kraaij R, Jankovic J, C. International Parkinson’s Disease Genomics, Heutink P, Shulman JM, Excessive burden of lysosomal storage disorder gene variants in Parkinson’s disease, Brain 140 (2017) 3191–3203. [PubMed: 29140481] [65]. Lines MA, Rupar CA, Rip JW, Baskin B, Ray PN, Hegele RA, Grynspan D, Michaud J, Geraghty MT, Infantile Sialic Acid Storage Disease: Two Unrelated Inuit Cases Homozygous for a Common Novel SLC17A5 Mutation, JIMD Rep 12 (2014) 79–84. [PubMed: 23900835] [66]. Strauss KA, Puffenberger EG, Craig DW, Panganiban CB, Lee AM, Hu-Lince D, Stephan DA, A uthor Man Morton DH, Genome-wide SNP arrays as a diagnostic tool: clinical description, genetic mapping, and molecular characterization of Salla disease in an Old Order Mennonite population, Am J Med Genet A 138A (2005) 262–267. [PubMed: 16158439] [67]. Hardy GH, Mendelian Proportions in a Mixed Population, Science 28 (1908) 49–50. [PubMed: 17779291] uscr [68]. Weinberg W, Über den Nachweis der Vererbung beim Menschen, Jahreshefte des Vereins für vaterländische Naturkunde in Württemberg 64 (1908) 368–382. ipt [69]. Mayo O, A century of Hardy-Weinberg equilibrium, Twin Res Hum Genet 11 (2008) 249–256. [PubMed: 18498203] Neurosci Lett. Author manuscript; available in PMC 2021 June 11.