{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T03:06:59Z","timestamp":1792033619498,"version":"4.4.0"},"reference-count":132,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2021,6,1]],"date-time":"2021-06-01T00:00:00Z","timestamp":1622505600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2021,6,1]],"date-time":"2021-06-01T00:00:00Z","timestamp":1622505600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Neuroscience Letters"],"published-print":{"date-parts":[[2021,6]]},"DOI":"10.1016\/j.neulet.2021.135896","type":"journal-article","created":{"date-parts":[[2021,4,20]],"date-time":"2021-04-20T22:28:33Z","timestamp":1618957713000},"page":"135896","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":51,"special_numbering":"C","title":["Free sialic acid storage disorder: Progress and promise"],"prefix":"10.1016","volume":"755","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9375-9539","authenticated-orcid":false,"given":"Marjan","family":"Huizing","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1325-3165","authenticated-orcid":false,"given":"Mary E.","family":"Hackbarth","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6660-1242","authenticated-orcid":false,"given":"David R.","family":"Adams","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2031-7817","authenticated-orcid":false,"given":"Melissa","family":"Wasserstein","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marc C.","family":"Patterson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2279-8597","authenticated-orcid":false,"given":"Steven U.","family":"Walkley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William A.","family":"Gahl","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David R.","family":"Adams","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7495-2475","authenticated-orcid":false,"given":"Kostantin","family":"Dobrenis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jessica","family":"Foglio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William A.","family":"Gahl","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4458-6296","authenticated-orcid":false,"given":"Bruno","family":"Gasnier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary","family":"Hackbarth","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marjan","family":"Huizing","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monkol","family":"Lek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"May C.V.","family":"Malicdan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liisa E.","family":"Paavola","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marc C.","family":"Patterson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0411-4673","authenticated-orcid":false,"given":"Richard","family":"Reimer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steven U.","family":"Walkley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melissa","family":"Wasserstein","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6494-7613","authenticated-orcid":false,"given":"Raymond Y.","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberto","family":"Zoncu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.neulet.2021.135896_bib0005","doi-asserted-by":"crossref","first-page":"462","DOI":"10.1038\/70585","article-title":"A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases","volume":"23","author":"Verheijen","year":"1999","journal-title":"Nat. Genet."},{"key":"10.1016\/j.neulet.2021.135896_bib0010","series-title":"GeneReviews","article-title":"Free sialic acid storage disorders","author":"Adams","year":"2003"},{"key":"10.1016\/j.neulet.2021.135896_bib0015","series-title":"The Online Metabolic and Molecular Bases of Inherited Disease","article-title":"Disorders of free sialic acid storage","author":"Aula","year":"2019"},{"key":"10.1016\/j.neulet.2021.135896_bib0020","doi-asserted-by":"crossref","first-page":"4560","DOI":"10.1038\/sj.emboj.7600464","article-title":"Functional characterization of wild-type and mutant human sialin","volume":"23","author":"Morin","year":"2004","journal-title":"EMBO J."},{"key":"10.1016\/j.neulet.2021.135896_bib0025","doi-asserted-by":"crossref","first-page":"19316","DOI":"10.1074\/jbc.M110.130716","article-title":"Structure-function studies of the SLC17 transporter sialin identify crucial residues and substrate-induced conformational changes","volume":"285","author":"Courville","year":"2010","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.neulet.2021.135896_bib0030","doi-asserted-by":"crossref","first-page":"621","DOI":"10.1042\/bj2680621","article-title":"Defective glucuronic acid transport from lysosomes of infantile free sialic acid storage disease fibroblasts","volume":"268","author":"Blom","year":"1990","journal-title":"Biochem. J."},{"key":"10.1016\/j.neulet.2021.135896_bib0035","doi-asserted-by":"crossref","first-page":"1329","DOI":"10.1172\/JCI115136","article-title":"Sialic acid storage diseases. A multiple lysosomal transport defect for acidic monosaccharides","volume":"87","author":"Mancini","year":"1991","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.neulet.2021.135896_bib0040","doi-asserted-by":"crossref","first-page":"11489","DOI":"10.1074\/jbc.M111.313056","article-title":"Successful prediction of substrate-binding pocket in SLC17 transporter sialin","volume":"287","author":"Pietrancosta","year":"2012","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.neulet.2021.135896_bib0045","doi-asserted-by":"crossref","first-page":"832","DOI":"10.1086\/303077","article-title":"The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation","volume":"67","author":"Aula","year":"2000","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.neulet.2021.135896_bib0050","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1016\/j.pediatrneurol.2017.05.022","article-title":"A new patient with intermediate severe salla disease with hypomyelination: a literature review for salla disease","volume":"74","author":"Barmherzig","year":"2017","journal-title":"Pediatr. Neurol."},{"key":"10.1016\/j.neulet.2021.135896_bib0055","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1038\/s41436-018-0051-3","article-title":"A cross-sectional quantitative analysis of the natural history of free sialic acid storage disease-an ultra-orphan multisystemic lysosomal storage disorder","volume":"21","author":"Zielonka","year":"2019","journal-title":"Genet. Med."},{"key":"10.1016\/j.neulet.2021.135896_bib0060","first-page":"398","article-title":"Infantile sialic acid storage disease: serial ultrasound and magnetic resonance imaging features","volume":"24","author":"Parazzini","year":"2003","journal-title":"AJNR Am. J. Neuroradiol."},{"key":"10.1016\/j.neulet.2021.135896_bib0065","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1055\/s-2008-1073028","article-title":"Phenotypic variation and magnetic resonance imaging (MRI) in Salla disease, a free sialic acid storage disorder","volume":"25","author":"Haataja","year":"1994","journal-title":"Neuropediatrics"},{"key":"10.1016\/j.neulet.2021.135896_bib0070","doi-asserted-by":"crossref","first-page":"524","DOI":"10.1038\/gim.2017.133","article-title":"A cross-sectional quantitative analysis of the natural history of Farber disease: an ultra-orphan condition with rheumatologic and neurological cardinal disease features","volume":"20","author":"Zielonka","year":"2018","journal-title":"Genet. Med."},{"key":"10.1016\/j.neulet.2021.135896_bib0075","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1016\/j.ymgme.2004.08.015","article-title":"Gaucher disease: complexity in a \"simple\" disorder","volume":"83","author":"Sidransky","year":"2004","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.neulet.2021.135896_bib0080","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1159\/000401559","article-title":"Four patients with a new lysosomal storage disorder (Salla disease)","volume":"10","author":"Aula","year":"1978","journal-title":"Monogr. Hum. Genet."},{"key":"10.1016\/j.neulet.2021.135896_bib0085","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1016\/j.ymgme.2004.03.001","article-title":"Clinical, biochemical, and molecular diagnosis of a free sialic acid storage disease patient of moderate severity","volume":"82","author":"Kleta","year":"2004","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.neulet.2021.135896_bib0090","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1002\/ajmg.a.20024","article-title":"Biochemical and molecular analyses of infantile free sialic acid storage disease in North American children","volume":"120A","author":"Kleta","year":"2003","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.neulet.2021.135896_bib0095","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1002\/(SICI)1096-8628(19990219)82:5<385::AID-AJMG6>3.0.CO;2-3","article-title":"Clinical spectrum of infantile free sialic acid storage disease","volume":"82","author":"Lemyre","year":"1999","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.neulet.2021.135896_bib0100","doi-asserted-by":"crossref","first-page":"196","DOI":"10.1186\/s13023-018-0936-x","article-title":"From scientific discovery to treatments for rare diseases - the view from the National Center for Advancing Translational Sciences - Office of Rare Diseases Research","volume":"13","author":"Kaufmann","year":"2018","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.neulet.2021.135896_bib0105","article-title":"Developing new treatments in partnership for primary mitochondrial disease: what does industry need from academics, and what do academics need from industry?","author":"Thompson","year":"2020","journal-title":"J. Inherit Metab. Dis."},{"key":"10.1016\/j.neulet.2021.135896_bib0110","doi-asserted-by":"crossref","first-page":"330","DOI":"10.2174\/1568026613666131127160118","article-title":"Collaborative development of 2-hydroxypropyl-beta-cyclodextrin for the treatment of Niemann-Pick type C1 disease","volume":"14","author":"Ottinger","year":"2014","journal-title":"Curr. Top. Med. Chem."},{"key":"10.1016\/j.neulet.2021.135896_bib0115","first-page":"893","article-title":"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","volume":"57","author":"Schleutker","year":"1995","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.neulet.2021.135896_bib0120","doi-asserted-by":"crossref","first-page":"1069","DOI":"10.1007\/s10545-011-9351-3","article-title":"Prenatal screening of sialic acid storage disease and confirmation in cultured fibroblasts by LC-MS\/MS","volume":"34","author":"van den Bosch","year":"2011","journal-title":"J. Inherit. Metab. Dis."},{"issue":"Pt 2","key":"10.1016\/j.neulet.2021.135896_bib0125","first-page":"179","article-title":"Finnish type of sialic acid storage disease with sialuria (Salla disease): the occurrence and diagnostic significance of cytoplasmic vacuoles in blood lymphocytes","volume":"29","author":"Simila","year":"1985","journal-title":"J. Ment. Defic. Res."},{"key":"10.1016\/j.neulet.2021.135896_bib0130","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1016\/0009-8981(68)90011-9","article-title":"[Description of a new type of melituria, called sialuria]","volume":"21","author":"Montreuil","year":"1968","journal-title":"Clin. Chim. Acta"},{"key":"10.1016\/j.neulet.2021.135896_bib0135","doi-asserted-by":"crossref","first-page":"1419","DOI":"10.1086\/320598","article-title":"Dominant inheritance of sialuria, an inborn error of feedback inhibition","volume":"68","author":"Leroy","year":"2001","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.neulet.2021.135896_bib0140","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1016\/j.molmed.2008.06.002","article-title":"Sialic acids in human health and disease","volume":"14","author":"Varki","year":"2008","journal-title":"Trends Mol. Med."},{"key":"10.1016\/j.neulet.2021.135896_bib0145","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/bs.accb.2018.09.001","article-title":"Exploration of the sialic acid world","volume":"75","author":"Schauer","year":"2018","journal-title":"Adv. Carbohydr. Chem. Biochem."},{"key":"10.1016\/j.neulet.2021.135896_bib0150","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1093\/glycob\/2.1.25","article-title":"Diversity in the sialic acids","volume":"2","author":"Varki","year":"1992","journal-title":"Glycobiology"},{"key":"10.1016\/j.neulet.2021.135896_bib0155","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1007\/128_2013_464","article-title":"UDP-GlcNAc 2-epimerase\/ManNAc kinase (GNE): a master regulator of sialic acid synthesis","volume":"366","author":"Hinderlich","year":"2015","journal-title":"Top. Curr. Chem."},{"key":"10.1016\/j.neulet.2021.135896_bib0160","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1016\/j.bbagen.2004.04.006","article-title":"CMP-sialic acid synthetase of the nucleus","volume":"1673","author":"Kean","year":"2004","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.neulet.2021.135896_bib0165","doi-asserted-by":"crossref","first-page":"1563","DOI":"10.1086\/302411","article-title":"Mutations in the human UDP-N-acetylglucosamine 2-epimerase gene define the disease sialuria and the allosteric site of the enzyme","volume":"64","author":"Seppala","year":"1999","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.neulet.2021.135896_bib0170","doi-asserted-by":"crossref","first-page":"371","DOI":"10.1073\/pnas.52.2.371","article-title":"The feedback control of sugar nucleotide biosynthesis in liver","volume":"52","author":"Kornfeld","year":"1964","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.neulet.2021.135896_bib0175","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1016\/S0300-9084(03)00047-6","article-title":"Salvage pathways in glycosphingolipid metabolism","volume":"85","author":"Tettamanti","year":"2003","journal-title":"Biochimie"},{"key":"10.1016\/j.neulet.2021.135896_bib0180","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1016\/S0065-2318(10)64007-3","article-title":"Sialidases in vertebrates: a family of enzymes tailored for several cell functions","volume":"64","author":"Monti","year":"2010","journal-title":"Adv. Carbohydr. Chem. Biochem."},{"key":"10.1016\/j.neulet.2021.135896_bib0185","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1023\/A:1020256004616","article-title":"The terminal enzymes of sialic acid metabolism: acylneuraminate pyruvate-lyases","volume":"19","author":"Schauer","year":"1999","journal-title":"Biosci. Rep."},{"key":"10.1016\/j.neulet.2021.135896_bib0190","doi-asserted-by":"crossref","DOI":"10.1172\/jci.insight.122373","article-title":"Sialic acid catabolism by N-acetylneuraminate pyruvate lyase is essential for muscle function","volume":"3","author":"Wen","year":"2018","journal-title":"JCI Insight"},{"key":"10.1016\/j.neulet.2021.135896_bib0195","doi-asserted-by":"crossref","first-page":"1640","DOI":"10.1016\/j.bbagen.2015.12.017","article-title":"Genetic defects in the hexosamine and sialic acid biosynthesis pathway","volume":"1860","author":"Willems","year":"2016","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.neulet.2021.135896_bib0200","doi-asserted-by":"crossref","first-page":"777","DOI":"10.1038\/ng.3578","article-title":"NANS-mediated synthesis of sialic acid is required for brain and skeletal development","volume":"48","author":"van Karnebeek","year":"2016","journal-title":"Nat. Genet."},{"key":"10.1016\/j.neulet.2021.135896_bib0205","doi-asserted-by":"crossref","first-page":"328","DOI":"10.1023\/A:1010588115479","article-title":"Clinical course and biochemistry of sialuria","volume":"24","author":"Enns","year":"2001","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.neulet.2021.135896_bib0210","doi-asserted-by":"crossref","first-page":"127","DOI":"10.2174\/1871527319666200213115747","article-title":"Sialuria-related intellectual disability in children and adolescent of Pakistan: tenth patient described has a novel mutation in the GNE gene","volume":"19","author":"Ishtiaq","year":"2020","journal-title":"CNS Neurol. Disord. Drug Targets"},{"key":"10.1016\/j.neulet.2021.135896_bib0215","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1006\/geno.1995.1044","article-title":"Linkage disequilibrium utilized to establish a refined genetic position of the Salla disease locus on 6q14-q15","volume":"27","author":"Schleutker","year":"1995","journal-title":"Genomics"},{"key":"10.1016\/j.neulet.2021.135896_bib0220","doi-asserted-by":"crossref","first-page":"655","DOI":"10.1002\/pd.1431","article-title":"Prenatal diagnosis of free sialic acid storage disorders (SASD)","volume":"26","author":"Aula","year":"2006","journal-title":"Prenat. Diagn."},{"key":"10.1016\/j.neulet.2021.135896_bib0225","doi-asserted-by":"crossref","first-page":"829","DOI":"10.1136\/jmg.2004.029744","article-title":"Clinical, morphological, and molecular aspects of sialic acid storage disease manifesting in utero","volume":"42","author":"Froissart","year":"2005","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.neulet.2021.135896_bib0230","doi-asserted-by":"crossref","first-page":"527","DOI":"10.1016\/j.ejmg.2014.06.005","article-title":"The early detection of Salla disease through second-tier tests in newborn screening: how to face incidental findings","volume":"57","author":"Couce","year":"2014","journal-title":"Eur. J. Med. Genet."},{"key":"10.1016\/j.neulet.2021.135896_bib0235","doi-asserted-by":"crossref","first-page":"272","DOI":"10.1046\/j.0960-7692.2001.00515.x","article-title":"Ultrasound assessment in a case of sialic acid storage disease","volume":"18","author":"Carbillon","year":"2001","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"10.1016\/j.neulet.2021.135896_bib0240","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1016\/S0022-3476(84)80997-X","article-title":"Congenital ascites as a presenting sign of lysosomal storage disease","volume":"104","author":"Gillan","year":"1984","journal-title":"J. Pediatr."},{"key":"10.1016\/j.neulet.2021.135896_bib0245","doi-asserted-by":"crossref","first-page":"738","DOI":"10.1002\/pd.5678","article-title":"Lysosomal storage disease spectrum in nonimmune hydrops fetalis: a retrospective case control study","volume":"40","author":"Al-Kouatly","year":"2020","journal-title":"Prenat. Diagn."},{"key":"10.1016\/j.neulet.2021.135896_bib0250","doi-asserted-by":"crossref","first-page":"759","DOI":"10.1126\/science.3961501","article-title":"Defective sialic acid egress from isolated fibroblast lysosomes of patients with Salla disease","volume":"232","author":"Renlund","year":"1986","journal-title":"Science"},{"key":"10.1016\/j.neulet.2021.135896_bib0255","doi-asserted-by":"crossref","first-page":"1971","DOI":"10.1016\/S0021-9258(18)69851-5","article-title":"The thiobarbituric acid assay of sialic acids","volume":"234","author":"Warren","year":"1959","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.neulet.2021.135896_bib0260","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1111\/j.1432-1033.1982.tb05881.x","article-title":"High-resolution 1H-NMR spectroscopy of free and glycosidically linked O-acetylated sialic acids","volume":"122","author":"Haverkamp","year":"1982","journal-title":"Eur. J. Biochem."},{"key":"10.1016\/j.neulet.2021.135896_bib0265","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1111\/j.1432-1033.1983.tb07114.x","article-title":"Free N-acetylneuraminic acid in tissues in Salla disease and the enzymes involved in its metabolism","volume":"130","author":"Renlund","year":"1983","journal-title":"Eur. J. Biochem."},{"key":"10.1016\/j.neulet.2021.135896_bib0270","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1016\/0009-8981(75)90119-9","article-title":"Oligosaccharides in urine of patients with glycoprotein storage diseases. I. Rapid detection by thin-layer chromatography","volume":"60","author":"Humbel","year":"1975","journal-title":"Clin. Chim. Acta"},{"key":"10.1016\/j.neulet.2021.135896_bib0275","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1093\/glycob\/8.1.35","article-title":"Analysis of the N-acetylneuraminic acid and N-glycolylneuraminic acid contents of glycoproteins by high-pH anion-exchange chromatography with pulsed amperometric detection","volume":"8","author":"Rohrer","year":"1998","journal-title":"Glycobiology"},{"key":"10.1016\/j.neulet.2021.135896_bib0280","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1016\/j.jchromb.2006.10.066","article-title":"Quantification of free and total sialic acid excretion by LC-MS\/MS","volume":"848","author":"van der Ham","year":"2007","journal-title":"J. Chromatogr. B Analyt. Technol. Biomed. Life Sci."},{"key":"10.1016\/j.neulet.2021.135896_bib0285","article-title":"Molecular based newborn screening in Germany: Follow-up for cystinosis","volume":"21","author":"Hohenfellner","year":"2019","journal-title":"Mol. Genet. Metab. Rep."},{"key":"10.1016\/j.neulet.2021.135896_bib0290","doi-asserted-by":"crossref","first-page":"753","DOI":"10.1002\/ana.21624","article-title":"Free sialic acid storage disease without sialuria","volume":"65","author":"Mochel","year":"2009","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.neulet.2021.135896_bib0295","doi-asserted-by":"crossref","first-page":"1408","DOI":"10.1074\/jbc.M411295200","article-title":"Varied mechanisms underlie the free sialic acid storage disorders","volume":"280","author":"Wreden","year":"2005","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.neulet.2021.135896_bib0300","doi-asserted-by":"crossref","first-page":"258","DOI":"10.1007\/s10545-008-0879-9","article-title":"Molecular physiology and pathophysiology of lysosomal membrane transporters","volume":"31","author":"Sagne","year":"2008","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.neulet.2021.135896_bib0305","doi-asserted-by":"crossref","first-page":"7456","DOI":"10.1016\/S0021-9258(20)89468-X","article-title":"Sialic acid metabolism in sialuria fibroblasts","volume":"266","author":"Seppala","year":"1991","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.neulet.2021.135896_bib0310","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1016\/S0887-8994(01)00406-4","article-title":"Phenotypic spectrum of Salla disease, a free sialic acid storage disorder","volume":"26","author":"Varho","year":"2002","journal-title":"Pediatr. Neurol."},{"key":"10.1016\/j.neulet.2021.135896_bib0315","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1016\/j.ymgme.2004.03.005","article-title":"A novel mutation in the SLC17A5 gene causing both severe and mild phenotypes of free sialic acid storage disease in one inbred Bedouin kindred","volume":"82","author":"Landau","year":"2004","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.neulet.2021.135896_bib0320","doi-asserted-by":"crossref","first-page":"3191","DOI":"10.1093\/brain\/awx285","article-title":"Excessive burden of lysosomal storage disorder gene variants in Parkinson\u2019s disease","volume":"140","author":"Robak","year":"2017","journal-title":"Brain"},{"key":"10.1016\/j.neulet.2021.135896_bib0325","first-page":"79","article-title":"Infantile sialic acid storage disease: two unrelated inuit cases homozygous for a common novel SLC17A5 mutation","volume":"12","author":"Lines","year":"2014","journal-title":"JIMD Rep."},{"key":"10.1016\/j.neulet.2021.135896_bib0330","doi-asserted-by":"crossref","first-page":"262","DOI":"10.1002\/ajmg.a.30961","article-title":"Genome-wide SNP arrays as a diagnostic tool: clinical description, genetic mapping, and molecular characterization of Salla disease in an Old Order Mennonite population","volume":"138A","author":"Strauss","year":"2005","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.neulet.2021.135896_bib0335","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1126\/science.28.706.49","article-title":"Mendelian proportions in a mixed population","volume":"28","author":"Hardy","year":"1908","journal-title":"Science"},{"key":"10.1016\/j.neulet.2021.135896_bib0340","first-page":"368","article-title":"\u00dcber den Nachweis Der Vererbung beim menschen","volume":"64","author":"Weinberg","year":"1908","journal-title":"Jahresh. Des Vereins F\u00e3\u00bcr Vaterl\u00e3\u00a4ndische Naturkunde W\u00e3\u00bcrttemberg"},{"key":"10.1016\/j.neulet.2021.135896_bib0345","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1375\/twin.11.3.249","article-title":"A century of Hardy-Weinberg equilibrium","volume":"11","author":"Mayo","year":"2008","journal-title":"Twin Res. Hum. Genet."},{"key":"10.1016\/j.neulet.2021.135896_bib0350","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1146\/annurev.biochem.72.121801.161800","article-title":"Signals for sorting of transmembrane proteins to endosomes and lysosomes","volume":"72","author":"Bonifacino","year":"2003","journal-title":"Annu. Rev. Biochem."},{"key":"10.1016\/j.neulet.2021.135896_bib0355","doi-asserted-by":"crossref","first-page":"636","DOI":"10.1016\/j.bbamcr.2008.12.008","article-title":"Molecular and cellular basis of lysosomal transmembrane protein dysfunction","volume":"1793","author":"Ruivo","year":"2009","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.neulet.2021.135896_bib0360","doi-asserted-by":"crossref","first-page":"551","DOI":"10.1042\/BC20070166","article-title":"Molecular pathogenesis of sialic acid storage diseases: insight gained from four missense mutations and a putative polymorphism of human sialin","volume":"100","author":"Ruivo","year":"2008","journal-title":"Biol. Cell"},{"key":"10.1016\/j.neulet.2021.135896_bib0365","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1016\/S1096-7192(02)00124-5","article-title":"Unraveling the molecular pathogenesis of free sialic acid storage disorders: altered targeting of mutant sialin","volume":"77","author":"Aula","year":"2002","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.neulet.2021.135896_bib0370","doi-asserted-by":"crossref","first-page":"11720","DOI":"10.1073\/pnas.0804015105","article-title":"Identification of a vesicular aspartate transporter","volume":"105","author":"Miyaji","year":"2008","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.neulet.2021.135896_bib0375","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1042\/BJ20130300","article-title":"Vesicular uptake of N-acetylaspartylglutamate is catalysed by sialin (SLC17A5)","volume":"454","author":"Lodder-Gadaczek","year":"2013","journal-title":"Biochem. J."},{"key":"10.1016\/j.neulet.2021.135896_bib0380","doi-asserted-by":"crossref","first-page":"13434","DOI":"10.1073\/pnas.1116633109","article-title":"Sialin (SLC17A5) functions as a nitrate transporter in the plasma membrane","volume":"109","author":"Qin","year":"2012","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.neulet.2021.135896_bib0385","doi-asserted-by":"crossref","first-page":"15247","DOI":"10.1016\/S0021-9258(19)84817-2","article-title":"Characterization of a proton-driven carrier for sialic acid in the lysosomal membrane. Evidence for a group-specific transport system for acidic monosaccharides","volume":"264","author":"Mancini","year":"1989","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.neulet.2021.135896_bib0390","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1007\/BF02343235","article-title":"Free sialic acid storage disease. A new Italian case","volume":"146","author":"Fois","year":"1987","journal-title":"Eur. J. Pediatr."},{"key":"10.1016\/j.neulet.2021.135896_bib0395","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1007\/BF00283373","article-title":"N-Acetylneuraminic acid storage disease","volume":"71","author":"Baumkotter","year":"1985","journal-title":"Hum. Genet."},{"key":"10.1016\/j.neulet.2021.135896_bib0400","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1016\/0387-7604(95)00142-5","article-title":"A Japanese case of infantile sialic acid storage disease","volume":"18","author":"Nakano","year":"1996","journal-title":"Brain Dev."},{"key":"10.1016\/j.neulet.2021.135896_bib0405","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1016\/0009-8981(95)06243-2","article-title":"Impairment of ganglioside metabolism in cultured fibroblasts from Salla patients","volume":"247","author":"Pitto","year":"1996","journal-title":"Clin. Chim. Acta"},{"key":"10.1016\/j.neulet.2021.135896_bib0410","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1042\/bj2500261","article-title":"Defective lysosomal release of glycoprotein-derived sialic acid in fibroblasts from patients with sialic acid storage disease","volume":"250","author":"Mendla","year":"1988","journal-title":"Biochem. J."},{"key":"10.1016\/j.neulet.2021.135896_bib0415","doi-asserted-by":"crossref","first-page":"625","DOI":"10.1042\/bj2180625","article-title":"Specificity studies on the oligosaccharide neuraminidase of human fibroblasts","volume":"218","author":"Mendla","year":"1984","journal-title":"Biochem. J."},{"key":"10.1016\/j.neulet.2021.135896_bib0420","doi-asserted-by":"crossref","first-page":"880","DOI":"10.1093\/glycob\/cws057","article-title":"Mammalian sialidases: physiological and pathological roles in cellular functions","volume":"22","author":"Miyagi","year":"2012","journal-title":"Glycobiology"},{"key":"10.1016\/j.neulet.2021.135896_bib0425","doi-asserted-by":"crossref","first-page":"375","DOI":"10.1007\/s10719-018-9837-4","article-title":"Keeping it trim: roles of neuraminidases in CNS function","volume":"35","author":"Pshezhetsky","year":"2018","journal-title":"Glycoconj. J."},{"key":"10.1016\/j.neulet.2021.135896_bib0430","doi-asserted-by":"crossref","first-page":"3467","DOI":"10.1096\/fj.201601299R","article-title":"Neuraminidases 3 and 4 regulate neuronal function by catabolizing brain gangliosides","volume":"31","author":"Pan","year":"2017","journal-title":"FASEB J."},{"key":"10.1016\/j.neulet.2021.135896_bib0435","doi-asserted-by":"crossref","first-page":"15355","DOI":"10.1523\/JNEUROSCI.3005-09.2009","article-title":"The lysosomal sialic acid transporter sialin is required for normal CNS myelination","volume":"29","author":"Prolo","year":"2009","journal-title":"J. Neurosci."},{"key":"10.1016\/j.neulet.2021.135896_bib0440","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1055\/s-0032-1306386","article-title":"Lysosomal disorders associated with leukoencephalopathy","volume":"32","author":"Renaud","year":"2012","journal-title":"Semin. Neurol."},{"key":"10.1016\/j.neulet.2021.135896_bib0445","doi-asserted-by":"crossref","first-page":"3040","DOI":"10.1096\/fj.15-270983","article-title":"Sialylation regulates brain structure and function","volume":"29","author":"Yoo","year":"2015","journal-title":"FASEB J."},{"key":"10.1016\/j.neulet.2021.135896_bib0450","doi-asserted-by":"crossref","first-page":"814","DOI":"10.1073\/pnas.93.2.814","article-title":"Gangliosides are neuronal ligands for myelin-associated glycoprotein","volume":"93","author":"Yang","year":"1996","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.neulet.2021.135896_bib0455","doi-asserted-by":"crossref","first-page":"7585","DOI":"10.1073\/pnas.100076197","article-title":"Negative regulation of central nervous system myelination by polysialylated-neural cell adhesion molecule","volume":"97","author":"Charles","year":"2000","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.neulet.2021.135896_bib0460","doi-asserted-by":"crossref","first-page":"16700","DOI":"10.1074\/jbc.M610797200","article-title":"Down-regulation of polysialic acid is required for efficient myelin formation","volume":"282","author":"Fewou","year":"2007","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.neulet.2021.135896_bib0465","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1016\/j.nbd.2003.11.017","article-title":"Sialin expression in the CNS implicates extralysosomal function in neurons","volume":"15","author":"Aula","year":"2004","journal-title":"Neurobiol. Dis."},{"key":"10.1016\/j.neulet.2021.135896_bib0470","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1111\/j.1471-4159.2011.07388.x","article-title":"Functional characterization of vesicular excitatory amino acid transport by human sialin","volume":"119","author":"Miyaji","year":"2011","journal-title":"J. Neurochem."},{"key":"10.1016\/j.neulet.2021.135896_bib0475","doi-asserted-by":"crossref","first-page":"1264","DOI":"10.1096\/fj.12-206300","article-title":"Vesicular uptake and exocytosis of L-aspartate is independent of sialin","volume":"27","author":"Morland","year":"2013","journal-title":"FASEB J."},{"key":"10.1016\/j.neulet.2021.135896_bib0480","doi-asserted-by":"crossref","first-page":"1125","DOI":"10.1126\/science.276.5315.1125","article-title":"Engineering chemical reactivity on cell surfaces through oligosaccharide biosynthesis","volume":"276","author":"Mahal","year":"1997","journal-title":"Science"},{"key":"10.1016\/j.neulet.2021.135896_bib0485","doi-asserted-by":"crossref","first-page":"515","DOI":"10.1007\/s10545-017-0118-3","article-title":"Chemical glycomics enrichment: imaging the recycling of sialic acid in living cells","volume":"41","author":"Gilormini","year":"2018","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.neulet.2021.135896_bib0490","doi-asserted-by":"crossref","first-page":"2318","DOI":"10.1039\/C5CC08838K","article-title":"A sequential bioorthogonal dual strategy: ManNAl and SiaNAl as distinct tools to unravel sialic acid metabolic pathways","volume":"52","author":"Gilormini","year":"2016","journal-title":"Chem. Commun. (Camb.)"},{"key":"10.1016\/j.neulet.2021.135896_bib0495","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1016\/j.tcb.2019.11.004","article-title":"Organoid and assembloid technologies for investigating cellular crosstalk in human brain development and disease","volume":"30","author":"Marton","year":"2020","journal-title":"Trends Cell Biol."},{"key":"10.1016\/j.neulet.2021.135896_bib0500","doi-asserted-by":"crossref","first-page":"224","DOI":"10.3389\/fmolb.2020.00224","article-title":"Human iPSC-Based models for the development of therapeutics targeting neurodegenerative lysosomal storage diseases","volume":"7","author":"Luciani","year":"2020","journal-title":"Front. Mol. Biosci."},{"key":"10.1016\/j.neulet.2021.135896_bib0505","doi-asserted-by":"crossref","DOI":"10.1016\/j.mcn.2020.103540","article-title":"Role of induced pluripotent stem cells in lysosomal storage diseases","volume":"108","author":"Kido","year":"2020","journal-title":"Mol. Cell. Neurosci."},{"key":"10.1016\/j.neulet.2021.135896_bib0510","article-title":"Human GLB1 knockout cerebral organoids: a model system for testing AAV9-mediated GLB1 gene therapy for reducing GM1 ganglioside storage in GM1 gangliosidosis","volume":"21","author":"Latour","year":"2019","journal-title":"Mol. Genet. Metab. Rep."},{"key":"10.1016\/j.neulet.2021.135896_bib0515","doi-asserted-by":"crossref","first-page":"106","DOI":"10.1016\/j.expneurol.2017.02.009","article-title":"Progressive leukoencephalopathy impairs neurobehavioral development in sialin-deficient mice","volume":"291","author":"Stroobants","year":"2017","journal-title":"Exp. Neurol."},{"key":"10.1016\/j.neulet.2021.135896_bib0520","doi-asserted-by":"crossref","first-page":"371","DOI":"10.1016\/j.ymgme.2007.08.121","article-title":"G328E and G409E sialin missense mutations similarly impair transport activity, but differentially affect trafficking","volume":"92","author":"Myall","year":"2007","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.neulet.2021.135896_bib0525","doi-asserted-by":"crossref","first-page":"8231","DOI":"10.1021\/acs.jmedchem.9b02119","article-title":"Amino acids bearing aromatic or heteroaromatic substituents as a new class of ligands for the lysosomal sialic acid transporter sialin","volume":"63","author":"Dubois","year":"2020","journal-title":"J. Med. Chem."},{"key":"10.1016\/j.neulet.2021.135896_bib0530","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1016\/j.bone.2017.02.002","article-title":"Osteopetroses, emphasizing potential approaches to treatment","volume":"102","author":"Teti","year":"2017","journal-title":"Bone"},{"key":"10.1016\/j.neulet.2021.135896_bib0535","doi-asserted-by":"crossref","first-page":"965","DOI":"10.1007\/s00467-018-3974-7","article-title":"Potential use of stem cells as a therapy for cystinosis","volume":"34","author":"Rocca","year":"2019","journal-title":"Pediatr. Nephrol."},{"key":"10.1016\/j.neulet.2021.135896_bib0540","doi-asserted-by":"crossref","first-page":"2943","DOI":"10.1038\/s41467-019-10925-3","article-title":"Adult stem cell deficits drive Slc29a3 disorders in mice","volume":"10","author":"Nair","year":"2019","journal-title":"Nat. Commun."},{"key":"10.1016\/j.neulet.2021.135896_bib0545","first-page":"2752","article-title":"Suppression of the motor deficit in a mucolipidosis type IV mouse model by bone marrow transplantation","volume":"25","author":"Walker","year":"2016","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.neulet.2021.135896_bib0550","doi-asserted-by":"crossref","first-page":"635","DOI":"10.1080\/21678707.2018.1534585","article-title":"Sanfilippo type C disease: pathogenic mechanism and potential therapeutic applications","volume":"6","author":"Pshezhetsky","year":"2018","journal-title":"Expert Opin. Orphan Drugs"},{"key":"10.1016\/j.neulet.2021.135896_bib0555","doi-asserted-by":"crossref","first-page":"4681","DOI":"10.1038\/ncomms5681","article-title":"A small molecule restores function to TRPML1 mutant isoforms responsible for mucolipidosis type IV","volume":"5","author":"Chen","year":"2014","journal-title":"Nat. Commun."},{"key":"10.1016\/j.neulet.2021.135896_bib0560","doi-asserted-by":"crossref","first-page":"1991","DOI":"10.1056\/NEJMoa0909825","article-title":"Effect of VX-770 in persons with cystic fibrosis and the G551D-CFTR mutation","volume":"363","author":"Accurso","year":"2010","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.neulet.2021.135896_bib0565","doi-asserted-by":"crossref","first-page":"1222","DOI":"10.1089\/hum.2019.190","article-title":"Gene-based approaches to inherited neurometabolic diseases","volume":"30","author":"Poletti","year":"2019","journal-title":"Hum. Gene Ther."},{"key":"10.1016\/j.neulet.2021.135896_bib0570","doi-asserted-by":"crossref","first-page":"1933","DOI":"10.2174\/1381612825666190708213159","article-title":"New advanced strategies for the treatment of lysosomal diseases affecting the central nervous system","volume":"25","author":"Gigliobianco","year":"2019","journal-title":"Curr. Pharm. Des."},{"key":"10.1016\/j.neulet.2021.135896_bib0575","doi-asserted-by":"crossref","first-page":"724","DOI":"10.3389\/fphar.2019.00724","article-title":"Gene therapy tools for brain diseases","volume":"10","author":"Ingusci","year":"2019","journal-title":"Front. Pharmacol."},{"key":"10.1016\/j.neulet.2021.135896_bib0580","doi-asserted-by":"crossref","DOI":"10.1080\/20013078.2018.1440131","article-title":"Extracellular vesicles as a platform for membrane-associated therapeutic protein delivery","volume":"7","author":"Yang","year":"2018","journal-title":"J. Extracell. Vesicles"},{"key":"10.1016\/j.neulet.2021.135896_bib0585","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1007\/s40263-019-00620-8","article-title":"Current and emerging treatment strategies for neuronal ceroid lipofuscinoses","volume":"33","author":"Kohlschutter","year":"2019","journal-title":"CNS Drugs"},{"key":"10.1016\/j.neulet.2021.135896_bib0590","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1038\/mt.2012.214","article-title":"Hematopoietic stem cell gene therapy for the multisystemic lysosomal storage disorder cystinosis","volume":"21","author":"Harrison","year":"2013","journal-title":"Mol. Ther."},{"key":"10.1016\/j.neulet.2021.135896_bib0595","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1016\/j.bone.2018.02.031","article-title":"RNA interference therapy for autosomal dominant osteopetrosis type 2. Towards the preclinical development","volume":"110","author":"Maurizi","year":"2018","journal-title":"Bone"},{"key":"10.1016\/j.neulet.2021.135896_bib0600","doi-asserted-by":"crossref","first-page":"73","DOI":"10.15252\/emmm.201505966","article-title":"The awesome lysosome","volume":"8","author":"Ballabio","year":"2016","journal-title":"EMBO Mol. Med."},{"key":"10.1016\/j.neulet.2021.135896_bib0605","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1038\/nrm3025","article-title":"mTOR: from growth signal integration to cancer, diabetes and ageing","volume":"12","author":"Zoncu","year":"2011","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"10.1016\/j.neulet.2021.135896_bib0610","doi-asserted-by":"crossref","first-page":"5630","DOI":"10.1038\/s41467-019-13572-w","article-title":"TRPML1 links lysosomal calcium to autophagosome biogenesis through the activation of the CaMKKbeta\/VPS34 pathway","volume":"10","author":"Scotto Rosato","year":"2019","journal-title":"Nat. Commun."},{"key":"10.1016\/j.neulet.2021.135896_bib0615","doi-asserted-by":"crossref","first-page":"457","DOI":"10.1007\/s10545-016-9919-z","article-title":"Altered mTOR signalling in nephropathic cystinosis","volume":"39","author":"Ivanova","year":"2016","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.neulet.2021.135896_bib0620","doi-asserted-by":"crossref","first-page":"1678","DOI":"10.1681\/ASN.2014090937","article-title":"Cystinosin is a component of the vacuolar H+-ATPase-Ragulator-Rag complex controlling mammalian target of rapamycin complex 1 signaling","volume":"27","author":"Andrzejewska","year":"2016","journal-title":"J. Am. Soc. Nephrol."},{"key":"10.1016\/j.neulet.2021.135896_bib0625","doi-asserted-by":"crossref","first-page":"14338","DOI":"10.1038\/ncomms14338","article-title":"mTORC1-independent TFEB activation via Akt inhibition promotes cellular clearance in neurodegenerative storage diseases","volume":"8","author":"Palmieri","year":"2017","journal-title":"Nat. Commun."},{"key":"10.1016\/j.neulet.2021.135896_bib0630","doi-asserted-by":"crossref","first-page":"832","DOI":"10.1111\/j.1469-8749.2004.tb00449.x","article-title":"Neurocognitive profiles in Salla disease","volume":"46","author":"Alajoki","year":"2004","journal-title":"Dev. Med. Child Neurol."},{"key":"10.1016\/j.neulet.2021.135896_bib0635","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1002\/ajmg.a.10246","article-title":"Sialic acid storage disease of the Salla phenotype in American monozygous twin female sibs","volume":"120A","author":"Martin","year":"2003","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.neulet.2021.135896_bib0640","doi-asserted-by":"crossref","first-page":"4228","DOI":"10.1074\/jbc.M412040200","article-title":"Mechanism of uptake and incorporation of the non-human sialic acid N-glycolylneuraminic acid into human cells","volume":"280","author":"Bardor","year":"2005","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.neulet.2021.135896_bib0645","doi-asserted-by":"crossref","first-page":"2906","DOI":"10.1002\/ajmg.a.38412","article-title":"Encephalopathy caused by novel mutations in the CMP-sialic acid transporter, SLC35A1","volume":"173","author":"Ng","year":"2017","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.neulet.2021.135896_bib0650","doi-asserted-by":"crossref","first-page":"727","DOI":"10.1016\/S0300-9084(01)01301-3","article-title":"The human sialyltransferase family","volume":"83","author":"Harduin-Lepers","year":"2001","journal-title":"Biochimie"},{"key":"10.1016\/j.neulet.2021.135896_bib0655","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1038\/ng718","article-title":"The UDP-N-acetylglucosamine 2-epimerase\/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy","volume":"29","author":"Eisenberg","year":"2001","journal-title":"Nat. Genet."},{"key":"10.1016\/j.neulet.2021.135896_bib0660","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1517\/21678707.2015.1025746","article-title":"Pathogenesis, emerging therapeutic targets and treatment in sialidosis","volume":"3","author":"d\u2019Azzo","year":"2015","journal-title":"Expert Opin. Orphan Drugs"}],"container-title":["Neuroscience Letters"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0304394021002743?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0304394021002743?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,4]],"date-time":"2025-10-04T20:42:07Z","timestamp":1759610527000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0304394021002743"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,6]]},"references-count":132,"alternative-id":["S0304394021002743"],"URL":"https:\/\/doi.org\/10.1016\/j.neulet.2021.135896","relation":{},"ISSN":["0304-3940"],"issn-type":[{"value":"0304-3940","type":"print"}],"subject":[],"published":{"date-parts":[[2021,6]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Free sialic acid storage disorder: Progress and promise","name":"articletitle","label":"Article Title"},{"value":"Neuroscience Letters","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.neulet.2021.135896","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2021 Published by Elsevier B.V.","name":"copyright","label":"Copyright"}],"article-number":"135896"}}