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Huizing et al. Page 13 7 Department of Molecular and Cell Biology, University of California, Berkeley, 94729, CA, A uthor Man United States 10. References [1]. Verheijen FW, Verbeek E, Aula N, Beerens CE, Havelaar AC, Joosse M, Peltonen L, Aula P, uscr Galjaard H, van der Spek PJ, Mancini GM, A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases, Nat Genet 23 (1999) 462–465. [PubMed: 10581036] ipt [2]. Adams D, Wasserstein M, Free Sialic Acid Storage Disorders. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A (Eds.), GeneReviews, University of Washington, Seattle (WA), 2003 [Updated 2020], p. Available from: https:// www.ncbi.nlm.nih.gov/books/NBK1470/. [3]. Aula P, Gahl WA, Disorders of Free Sialic Acid Storage. In: Valle DL, Antonarakis S, Ballabio A, Beaudet AL, G.A. M (Eds.), The Online Metabolic and Molecular Bases of Inherited Disease, McGraw-Hill, 2019, p. https://ommbid.mhmedical.com/content.aspx? A bookid=2709§ionid=225891389. uthor Man [4]. Morin P, Sagne C, Gasnier B, Functional characterization of wild-type and mutant human sialin, EMBO J 23 (2004) 4560–4570. [PubMed: 15510212] [5]. Courville P, Quick M, Reimer RJ, Structure-function studies of the SLC17 transporter sialin identify crucial residues and substrate-induced conformational changes, J Biol Chem 285 (2010) uscr 19316–19323. [PubMed: 20424173] [6]. Blom HJ, Andersson HC, Seppala R, Tietze F, Gahl WA, Defective glucuronic acid transport from ipt lysosomes of infantile free sialic acid storage disease fibroblasts, Biochem J 268 (1990) 621–625. [PubMed: 2363700] [7]. Mancini GM, Beerens CE, Aula PP, Verheijen FW, Sialic acid storage diseases. A multiple lysosomal transport defect for acidic monosaccharides, J Clin Invest 87 (1991) 1329–1335. [PubMed: 2010546] [8]. Pietrancosta N, Anne C, Prescher H, Ruivo R, Sagne C, Debacker C, Bertrand HO, Brossmer R, Acher F, Gasnier B, Successful prediction of substrate-binding pocket in SLC17 transporter sialin, J Biol Chem 287 (2012) 11489–11497. [PubMed: 22334707] A uthor Man [9]. Aula N, Salomaki P, Timonen R, Verheijen F, Mancini G, Mansson JE, Aula P, Peltonen L, The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation, Am J Hum Genet 67 (2000) 832–840. [PubMed: 10947946] [10]. Barmherzig R, Bullivant G, Cordeiro D, Sinasac DS, Blaser S, Mercimek-Mahmutoglu S, A New uscr Patient With Intermediate Severe Salla Disease With Hypomyelination: A Literature Review for Salla Disease, Pediatr Neurol 74 (2017) 87–91 e82. [PubMed: 28662915] ipt [11]. Zielonka M, Garbade SF, Kolker S, Hoffmann GF, Ries M, A cross-sectional quantitative analysis of the natural history of free sialic acid storage disease-an ultra-orphan multisystemic lysosomal storage disorder, Genet Med 21 (2019) 347–352. [PubMed: 29875421] [12]. Parazzini C, Arena S, Marchetti L, Menni F, Filocamo M, Verheijen FW, Mancini GM, Triulzi F, Parini R, Infantile sialic acid storage disease: serial ultrasound and magnetic resonance imaging features, AJNR Am J Neuroradiol 24 (2003) 398–400. [PubMed: 12637289] [13]. Haataja L, Parkkola R, Sonninen P, Vanhanen SL, Schleutker J, Aarimaa T, Turpeinen U, A Renlund M, Aula P, Phenotypic variation and magnetic resonance imaging (MRI) in Salla uthor Man disease, a free sialic acid storage disorder, Neuropediatrics 25 (1994) 238–244. [PubMed: 7885532] [14]. Zielonka M, Garbade SF, Kolker S, Hoffmann GF, Ries M, A cross-sectional quantitative analysis of the natural history of Farber disease: an ultra-orphan condition with rheumatologic uscr and neurological cardinal disease features, Genet Med 20 (2018) 524–530. [PubMed: 29048419] [15]. Sidransky E, Gaucher disease: complexity in a “simple” disorder, Mol Genet Metab 83 (2004) 6– ipt 15. [PubMed: 15464415] Neurosci Lett. Author manuscript; available in PMC 2021 June 11.

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