{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,28]],"date-time":"2026-10-28T19:19:13Z","timestamp":1793215153995,"version":"4.5.0"},"reference-count":206,"publisher":"Elsevier BV","issue":"8","license":[{"start":{"date-parts":[[2021,8,1]],"date-time":"2021-08-01T00:00:00Z","timestamp":1627776000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2021,8,1]],"date-time":"2021-08-01T00:00:00Z","timestamp":1627776000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2021,4,15]],"date-time":"2021-04-15T00:00:00Z","timestamp":1618444800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100016065","name":"Stichting Stofwisselkracht","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100016065","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003246","name":"NWO","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003246","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004243","name":"Prinses Beatrix Spierfonds","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004243","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Biochimica et Biophysica Acta (BBA) - General Subjects"],"published-print":{"date-parts":[[2021,8]]},"DOI":"10.1016\/j.bbagen.2021.129898","type":"journal-article","created":{"date-parts":[[2021,4,18]],"date-time":"2021-04-18T18:23:15Z","timestamp":1618770195000},"page":"129898","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":179,"title":["Galactose in human metabolism, glycosylation and congenital metabolic diseases: Time for a closer look"],"prefix":"10.1016","volume":"1865","author":[{"given":"Federica","family":"Conte","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicole","family":"van Buuringen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicol C.","family":"Voermans","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dirk J.","family":"Lefeber","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"2","key":"10.1016\/j.bbagen.2021.129898_bb0005","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1111\/jhn.12338","article-title":"A review of sugar consumption from nationally representative dietary surveys across the world","volume":"29","author":"Newens","year":"2016","journal-title":"J. Hum. Nutr. Diet."},{"key":"10.1016\/j.bbagen.2021.129898_bb0010","series-title":"StatPearls [Internet]","article-title":"Physiology, Carbohydrates. [Updated 2020 Aug 25]","author":"Holesh","year":"2021"},{"issue":"7","key":"10.1016\/j.bbagen.2021.129898_bb0015","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1111\/j.1753-4887.1995.tb01549.x","article-title":"Complex carbohydrates: the science and the label","volume":"53","author":"Lineback","year":"1995","journal-title":"Nutr. Rev."},{"key":"10.1016\/j.bbagen.2021.129898_bb0020","series-title":"Essentials of Glycobiology","article-title":"Monosaccharide diversity","year":"2017"},{"issue":"3","key":"10.1016\/j.bbagen.2021.129898_bb0025","doi-asserted-by":"crossref","first-page":"186","DOI":"10.2174\/187152507781058663","article-title":"Carbohydrates in therapeutics","volume":"5","author":"Kilcoyne","year":"2007","journal-title":"Cardiovasc. Hematol. Agents Med. Chem."},{"key":"10.1016\/j.bbagen.2021.129898_bb0030","series-title":"Historical Background and Overview, in essentials of glycobiology","author":"Sharon","year":"2019"},{"issue":"2","key":"10.1016\/j.bbagen.2021.129898_bb0035","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1007\/s00418-016-1521-9","article-title":"An introduction to the sugar code","volume":"147","author":"Gabius","year":"2017","journal-title":"Histochem. Cell Biol."},{"issue":"3","key":"10.1016\/j.bbagen.2021.129898_bb0040","doi-asserted-by":"crossref","first-page":"108","DOI":"10.1007\/s001140050687","article-title":"Biological information transfer beyond the genetic code: the sugar code","volume":"87","author":"Gabius","year":"2000","journal-title":"Naturwissenschaften"},{"issue":"2","key":"10.1016\/j.bbagen.2021.129898_bb0045","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1007\/s00418-016-1518-4","article-title":"Lipid glycosylation: a primer for histochemists and cell biologists","volume":"147","author":"Kopitz","year":"2017","journal-title":"Histochem. Cell Biol."},{"issue":"4","key":"10.1016\/j.bbagen.2021.129898_bb0050","first-page":"422","article-title":"Galactose metabolism and health","volume":"18","author":"Coelho","year":"2015","journal-title":"Curr Opin Clin Nutr Metab Care"},{"issue":"8","key":"10.1016\/j.bbagen.2021.129898_bb0055","doi-asserted-by":"crossref","first-page":"764","DOI":"10.1002\/cmdc.201700762","article-title":"Application of mono-and disaccharides in drug targeting and efficacy","volume":"13","author":"Yuan","year":"2018","journal-title":"ChemMedChem"},{"issue":"4","key":"10.1016\/j.bbagen.2021.129898_bb0060","doi-asserted-by":"crossref","first-page":"456","DOI":"10.1093\/glycob\/cwr144","article-title":"Galactofuranose in eukaryotes: aspects of biosynthesis and functional impact","volume":"22","author":"Tefsen","year":"2011","journal-title":"Glycobiology"},{"key":"10.1016\/j.bbagen.2021.129898_bb0065","series-title":"Note sur le sucre de lait","author":"Pasteur","year":"1856"},{"issue":"1","key":"10.1016\/j.bbagen.2021.129898_bb0070","first-page":"382","article-title":"Ueber die Configuration der Rhamnose und Galactose","volume":"27","author":"Fischer","year":"1894","journal-title":"Ber. Dtsch. Chem. Ges."},{"key":"10.1016\/j.bbagen.2021.129898_bb0075","series-title":"Chimie organique fond\u00e9e sur la synth\u00e8se","volume":"Vol. 1","author":"Berthelot","year":"1860"},{"issue":"3","key":"10.1016\/j.bbagen.2021.129898_bb0080","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1007\/s10545-017-0029-3","article-title":"Sweet and sour: an update on classic galactosemia","volume":"40","author":"Coelho","year":"2017","journal-title":"J. Inherit. Metab. Dis."},{"issue":"2","key":"10.1016\/j.bbagen.2021.129898_bb0085","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1007\/BF01800599","article-title":"Fruits and vegetables are a source of galactose: implications in planning the diets of patients with galactosaemia","volume":"14","author":"Gross","year":"1991","journal-title":"J. Inherit. Metab. Dis."},{"issue":"4","key":"10.1016\/j.bbagen.2021.129898_bb0090","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1006\/jfca.1995.1026","article-title":"Soluble galactose content of selected baby food cereals and juices","volume":"8","author":"Gross","year":"1995","journal-title":"J. Food Compos. Anal."},{"issue":"5","key":"10.1016\/j.bbagen.2021.129898_bb0095","first-page":"573","article-title":"Free galactose content of fresh fruits and strained fruit and vegetable baby foods: more foods to consider for the galactose-restricted diet","volume":"100","author":"Stepnick","year":"2000","journal-title":"J. Acad. Nutr. Diet."},{"issue":"6","key":"10.1016\/j.bbagen.2021.129898_bb0100","doi-asserted-by":"crossref","first-page":"1397","DOI":"10.1021\/jf404995a","article-title":"Galactose content of legumes, caseinates, and some hard cheeses: implications for diet treatment of classic galactosemia","volume":"62","author":"Van Calcar","year":"2014","journal-title":"J. Agric. Food Chem."},{"issue":"11","key":"10.1016\/j.bbagen.2021.129898_bb0105","doi-asserted-by":"crossref","first-page":"1657","DOI":"10.3748\/wjg.v12.i11.1657","article-title":"Intestinal sugar transport","volume":"12","author":"Drozdowski","year":"2006","journal-title":"World J. Gastroenterol."},{"issue":"45","key":"10.1016\/j.bbagen.2021.129898_bb0110","doi-asserted-by":"crossref","first-page":"43885","DOI":"10.1074\/jbc.R300025200","article-title":"Structure and function of enzymes of the Leloir pathway for galactose metabolism","volume":"278","author":"Holden","year":"2003","journal-title":"J. Biol. Chem."},{"issue":"1","key":"10.1016\/j.bbagen.2021.129898_bb0115","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1051\/lait:1998110","article-title":"Genetics of galactose utilisation via the Leloir pathway in lactic acid bacteria","volume":"78","author":"Grossiord","year":"1998","journal-title":"Lait"},{"issue":"4","key":"10.1016\/j.bbagen.2021.129898_bb0120","doi-asserted-by":"crossref","first-page":"461","DOI":"10.1096\/fasebj.10.4.8647345","article-title":"The Leloir pathway: a mechanistic imperative for three enzymes to change the stereochemical configuration of a single carbon in galactose","volume":"10","author":"Frey","year":"1996","journal-title":"FASEB J."},{"issue":"12","key":"10.1016\/j.bbagen.2021.129898_bb0125","doi-asserted-by":"crossref","first-page":"6265","DOI":"10.21873\/anticanres.11221","article-title":"The Leloir pathway of Galactose metabolism - a novel therapeutic target for hepatocellular carcinoma","volume":"36","author":"Tang","year":"2016","journal-title":"Anticancer Res."},{"issue":"3","key":"10.1016\/j.bbagen.2021.129898_bb0130","first-page":"307","article-title":"Enzymatically catalyzed mutarotation of aldoses. Studies on aldose-1-epimerase from E. coli","volume":"343","author":"Wallenfels","year":"1965","journal-title":"Biochem. Z."},{"issue":"22","key":"10.1016\/j.bbagen.2021.129898_bb0135","doi-asserted-by":"crossref","first-page":"23431","DOI":"10.1074\/jbc.M402347200","article-title":"Molecular structure of human galactose mutarotase","volume":"279","author":"Thoden","year":"2004","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.bbagen.2021.129898_bb0140","series-title":"UniProtKB - Q96C23 (GALM_HUMAN)","author":"Uniprot","year":"2019"},{"key":"10.1016\/j.bbagen.2021.129898_bb0145","unstructured":"Uniprot, UniProtKB - U6EK71 (U6EK71_LACLL). 2019."},{"issue":"2","key":"10.1016\/j.bbagen.2021.129898_bb0150","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1042\/bj1080169","article-title":"Some properties of galactokinase in developing rat liver","volume":"108","author":"Walker","year":"1968","journal-title":"Biochem. J."},{"key":"10.1016\/j.bbagen.2021.129898_bb0155","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1186\/1471-2091-4-16","article-title":"Sugar recognition by human galactokinase","volume":"4","author":"Timson","year":"2003","journal-title":"BMC Biochem."},{"key":"10.1016\/j.bbagen.2021.129898_bb0160","series-title":"UniProtKB - P07902 (GALT_HUMAN)","author":"Uniprot","year":"2019"},{"issue":"11","key":"10.1016\/j.bbagen.2021.129898_bb0165","doi-asserted-by":"crossref","first-page":"2234","DOI":"10.1093\/hmg\/ddw091","article-title":"Molecular basis of classic galactosemia from the structure of human galactose 1-phosphate uridylyltransferase","volume":"25","author":"McCorvie","year":"2016","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.bbagen.2021.129898_bb0170","series-title":"UniProtKB - Q14376 (GALE_HUMAN)","author":"Uniprot","year":"2019"},{"key":"10.1016\/j.bbagen.2021.129898_bb0175","doi-asserted-by":"crossref","first-page":"188","DOI":"10.1016\/j.metabol.2018.01.025","article-title":"Hereditary galactosemia","volume":"83","author":"Demirbas","year":"2018","journal-title":"Metabolism"},{"issue":"2","key":"10.1016\/j.bbagen.2021.129898_bb0180","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1080\/15216540600644846","article-title":"The structural and molecular biology of type III galactosemia","volume":"58","author":"Timson","year":"2006","journal-title":"IUBMB Life"},{"issue":"11","key":"10.1016\/j.bbagen.2021.129898_bb0185","doi-asserted-by":"crossref","first-page":"2077","DOI":"10.1001\/jama.1969.03160110049013","article-title":"Hereditary galactosemia","volume":"208","author":"Hansen","year":"1969","journal-title":"Jama"},{"issue":"3735","key":"10.1016\/j.bbagen.2021.129898_bb0190","doi-asserted-by":"crossref","first-page":"549","DOI":"10.1126\/science.153.3735.549","article-title":"Galactose conversion to D-xylulose: an alternate route of galactose metabolism","volume":"153","author":"Cuatrecasas","year":"1966","journal-title":"Science"},{"issue":"1","key":"10.1016\/j.bbagen.2021.129898_bb0195","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1016\/0003-9861(79)90027-4","article-title":"Galactose oxidation in liver","volume":"193","author":"Rancour","year":"1979","journal-title":"Arch. Biochem. Biophys."},{"issue":"1","key":"10.1016\/j.bbagen.2021.129898_bb0200","doi-asserted-by":"crossref","first-page":"304","DOI":"10.1016\/0006-291X(84)91101-X","article-title":"Accumulation of galactonate in liver of suckling rats perfused with galactose","volume":"118","author":"Rogers","year":"1984","journal-title":"Biochem. Biophys. Res. Commun."},{"issue":"4","key":"10.1016\/j.bbagen.2021.129898_bb0205","doi-asserted-by":"crossref","first-page":"306","DOI":"10.1006\/mgme.2001.3152","article-title":"Galactose metabolism in mice with galactose-1-phosphate uridyltransferase deficiency: sucklings and 7-week-old animals fed a high-galactose diet","volume":"72","author":"Ning","year":"2001","journal-title":"Mol. Genet. Metab."},{"issue":"6","key":"10.1016\/j.bbagen.2021.129898_bb0210","doi-asserted-by":"crossref","first-page":"855","DOI":"10.1203\/00006450-199712000-00022","article-title":"Urinary galactonate in patients with galactosemia: quantitation by nuclear magnetic resonance spectroscopy","volume":"42","author":"Wehrli","year":"1997","journal-title":"Pediatr. Res."},{"issue":"1","key":"10.1016\/j.bbagen.2021.129898_bb0215","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1016\/0003-9861(86)90068-8","article-title":"R-Galactonolactone in experimental galactosemic animals","volume":"251","author":"Wada","year":"1986","journal-title":"Arch. Biochem. Biophys."},{"issue":"4035","key":"10.1016\/j.bbagen.2021.129898_bb0220","doi-asserted-by":"crossref","first-page":"683","DOI":"10.1126\/science.176.4035.683","article-title":"Galactonic acid in galactosemia: identification in the urine","volume":"176","author":"Bergren","year":"1972","journal-title":"Science"},{"issue":"7","key":"10.1016\/j.bbagen.2021.129898_bb0225","doi-asserted-by":"crossref","first-page":"1177","DOI":"10.1373\/clinchem.2010.144097","article-title":"Monitoring of biochemical status in children with Duarte galactosemia: utility of galactose, galactitol, galactonate, and galactose 1-phosphate","volume":"56","author":"Ficicioglu","year":"2010","journal-title":"Clin. Chem."},{"key":"10.1016\/j.bbagen.2021.129898_bb0230","series-title":"Structure and function of human xylulokinase, an enzyme with important roles in carbohydrate metabolism","author":"Bunker","year":"2013"},{"issue":"10","key":"10.1016\/j.bbagen.2021.129898_bb0235","first-page":"713","article-title":"Mechanisms initiating cataract formation. Proctor Lecture","volume":"13","author":"Kinoshita","year":"1974","journal-title":"Investig. Ophthalmol."},{"issue":"3","key":"10.1016\/j.bbagen.2021.129898_bb0240","doi-asserted-by":"crossref","first-page":"1392","DOI":"10.1111\/jcmm.13472","article-title":"Effects of d-galactose-induced ageing on the heart and its potential interventions","volume":"22","author":"Bo-Htay","year":"2018","journal-title":"J. Cell. Mol. Med."},{"issue":"2","key":"10.1016\/j.bbagen.2021.129898_bb0245","doi-asserted-by":"crossref","first-page":"S50","DOI":"10.1007\/BF02143804","article-title":"Galactitol in galactosemia","volume":"154","author":"Jakobs","year":"1995","journal-title":"Eur. J. Pediatr."},{"key":"10.1016\/j.bbagen.2021.129898_bb0250","unstructured":"HMDB, metabocard for Galactitol (HMDB0000107). 2019."},{"issue":"19\u201320","key":"10.1016\/j.bbagen.2021.129898_bb0255","doi-asserted-by":"crossref","first-page":"2471","DOI":"10.1007\/s00018-004-4160-6","article-title":"Galactokinase: structure, function and role in type II galactosemia","volume":"61","author":"Holden","year":"2004","journal-title":"Cell. Mol. Life Sci. CMLS"},{"issue":"3","key":"10.1016\/j.bbagen.2021.129898_bb0260","doi-asserted-by":"crossref","first-page":"165","DOI":"10.3109\/15476910903510806","article-title":"Toxic effects of D-galactose on thymus and spleen that resemble aging","volume":"7","author":"Uddin","year":"2010","journal-title":"J. Immunotoxicol."},{"issue":"3","key":"10.1016\/j.bbagen.2021.129898_bb0265","doi-asserted-by":"crossref","first-page":"1392","DOI":"10.1111\/jcmm.13472","article-title":"Effects of d-galactose-induced ageing on the heart and its potential interventions","volume":"22","author":"Bo-Htay","year":"2018","journal-title":"J. Cell. Mol. Med."},{"issue":"1","key":"10.1016\/j.bbagen.2021.129898_bb0270","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1042\/BJ20081386","article-title":"How mitochondria produce reactive oxygen species","volume":"417","author":"Murphy","year":"2009","journal-title":"Biochem. J."},{"issue":"5","key":"10.1016\/j.bbagen.2021.129898_bb0275","doi-asserted-by":"crossref","first-page":"654","DOI":"10.1016\/j.molcel.2016.01.028","article-title":"The mitochondrial basis of aging","volume":"61","author":"Sun","year":"2016","journal-title":"Mol. Cell"},{"issue":"5","key":"10.1016\/j.bbagen.2021.129898_bb0280","doi-asserted-by":"crossref","first-page":"835","DOI":"10.1016\/j.ajhg.2019.03.003","article-title":"The metabolic map into the Pathomechanism and treatment of PGM1-CDG","volume":"104","author":"Radenkovic","year":"2019","journal-title":"Am. J. Hum. Genet."},{"issue":"3","key":"10.1016\/j.bbagen.2021.129898_bb0285","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1007\/s10719-015-9626-2","article-title":"Human plasma protein N-glycosylation","volume":"33","author":"Clerc","year":"2016","journal-title":"Glycoconj. J."},{"issue":"5","key":"10.1016\/j.bbagen.2021.129898_bb0290","doi-asserted-by":"crossref","first-page":"447","DOI":"10.1093\/glycob\/cwi033","article-title":"Site-specific glycosylation analysis of human apolipoprotein B100 using LC\/ESI MS\/MS","volume":"15","author":"Harazono","year":"2004","journal-title":"Glycobiology"},{"issue":"12","key":"10.1016\/j.bbagen.2021.129898_bb0295","doi-asserted-by":"crossref","first-page":"2132","DOI":"10.1074\/mcp.M700361-MCP200","article-title":"N-glycosylation site occupancy in serum glycoproteins using multiple reaction monitoring liquid chromatography-mass spectrometry","volume":"6","author":"H\u00fclsmeier","year":"2007","journal-title":"Mol. Cell. Proteomics"},{"issue":"6","key":"10.1016\/j.bbagen.2021.129898_bb0300","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1038\/nchembio880","article-title":"N-glycan structure dictates extension of protein folding or onset of disposal","volume":"3","author":"Molinari","year":"2007","journal-title":"Nat. Chem. Biol."},{"key":"10.1016\/j.bbagen.2021.129898_bb0305","series-title":"Determination of glycosylation sites and site-specific heterogeneity in glycoproteins","author":"An","year":"2009"},{"issue":"6166","key":"10.1016\/j.bbagen.2021.129898_bb0310","doi-asserted-by":"crossref","first-page":"1235681","DOI":"10.1126\/science.1235681","article-title":"Emerging principles for the therapeutic exploitation of glycosylation","volume":"343","author":"Dalziel","year":"2014","journal-title":"Science"},{"key":"10.1016\/j.bbagen.2021.129898_bb0315","doi-asserted-by":"crossref","first-page":"1123","DOI":"10.1016\/j.csbj.2019.08.002","article-title":"Nucleotide sugar transporter SLC35 family structure and function","volume":"17","author":"Hadley","year":"2019","journal-title":"Comput Struct Biotechnol J"},{"key":"10.1016\/j.bbagen.2021.129898_bb0320","series-title":"Essentials of Glycobiology","article-title":"Glycosyltransferases and glycan-processing enzymes","author":"M","year":"2017"},{"issue":"7","key":"10.1016\/j.bbagen.2021.129898_bb0325","doi-asserted-by":"crossref","first-page":"1081","DOI":"10.1007\/s00018-002-8489-4","article-title":"The galactosyltransferase family","volume":"59","author":"Hennet","year":"2002","journal-title":"Cell. Mol. Life Sci."},{"issue":"5512","key":"10.1016\/j.bbagen.2021.129898_bb0330","doi-asserted-by":"crossref","first-page":"2364","DOI":"10.1126\/science.291.5512.2364","article-title":"Intracellular functions of N-linked glycans","volume":"291","author":"Helenius","year":"2001","journal-title":"Science"},{"key":"10.1016\/j.bbagen.2021.129898_bb0335","series-title":"Essentials of Glycobiology","article-title":"Glycosylation precursors","author":"Freeze","year":"2017"},{"issue":"6","key":"10.1016\/j.bbagen.2021.129898_bb0340","doi-asserted-by":"crossref","DOI":"10.1093\/glycob\/cwi041","article-title":"Lysosomal metabolism of glycoproteins","volume":"15","author":"Winchester","year":"2005","journal-title":"Glycobiology"},{"key":"10.1016\/j.bbagen.2021.129898_bb0345","series-title":"N-glycans, in Essentials of Glycobiology","author":"Stanley","year":"2017"},{"key":"10.1016\/j.bbagen.2021.129898_bb0350","series-title":"O-GalNAc Glycans, in Essentials of Glycobiology","author":"Stanley","year":"2017"},{"key":"10.1016\/j.bbagen.2021.129898_bb0355","unstructured":"Casale, J. and J.S. Crane. Biochemistry, Glycosaminoglycans. In: StatPearls [Internet] 2020 [Updated 2020 Jul 10]; Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK544295\/."},{"issue":"3","key":"10.1016\/j.bbagen.2021.129898_bb0360","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1016\/j.chembiol.2004.11.020","article-title":"Structural insights into biological roles of protein-glycosaminoglycan interactions","volume":"12","author":"Raman","year":"2005","journal-title":"Chem. Biol."},{"issue":"3","key":"10.1016\/j.bbagen.2021.129898_bb0365","doi-asserted-by":"crossref","first-page":"2003","DOI":"10.3390\/biom5032003","article-title":"Determinants of Glycosaminoglycan (GAG) structure","volume":"5","author":"Prydz","year":"2015","journal-title":"Biomolecules"},{"issue":"2","key":"10.1016\/j.bbagen.2021.129898_bb0370","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1093\/oxfordjournals.jbchem.a125896","article-title":"Biochemical studies on carbohydrates. Prosthetic group of cornea mucoid","volume":"30","author":"Suzuki","year":"1939","journal-title":"J. Biochem."},{"key":"10.1016\/j.bbagen.2021.129898_bb0375","doi-asserted-by":"crossref","first-page":"389","DOI":"10.1007\/978-1-4939-1714-3_30","article-title":"Keratan sulfate: biosynthesis, structures, and biological functions","volume":"1229","author":"Uchimura","year":"2015","journal-title":"Methods Mol. Biol."},{"issue":"4","key":"10.1016\/j.bbagen.2021.129898_bb0380","doi-asserted-by":"crossref","first-page":"182","DOI":"10.1093\/glycob\/cwy003","article-title":"Keratan sulfate, a complex glycosaminoglycan with unique functional capability","volume":"28","author":"Caterson","year":"2018","journal-title":"Glycobiology"},{"issue":"1","key":"10.1016\/j.bbagen.2021.129898_bb0385","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1038\/sj.cr.7290106","article-title":"Structure and function of aggrecan","volume":"12","author":"Kiani","year":"2002","journal-title":"Cell Res."},{"issue":"4","key":"10.1016\/j.bbagen.2021.129898_bb0390","doi-asserted-by":"crossref","first-page":"943","DOI":"10.1128\/MCB.02085-07","article-title":"Core glycosylation of collagen is initiated by two beta(1-O)galactosyltransferases","volume":"29","author":"Schegg","year":"2009","journal-title":"Mol. Cell. Biol."},{"key":"10.1016\/j.bbagen.2021.129898_bb0395","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1016\/j.sbi.2019.01.015","article-title":"Collagen glycosylation","volume":"56","author":"Hennet","year":"2019","journal-title":"Curr. Opin. Struct. Biol."},{"key":"10.1016\/j.bbagen.2021.129898_bb0400","first-page":"320","article-title":"Uber den Kohlenhydratgehalt des Kollagens II","volume":"277","author":"Grassmann","year":"1935","journal-title":"Biochem. Z."},{"issue":"3","key":"10.1016\/j.bbagen.2021.129898_bb0405","doi-asserted-by":"crossref","first-page":"1314","DOI":"10.1073\/pnas.032307099","article-title":"Type I collagen is thermally unstable at body temperature","volume":"99","author":"Leikina","year":"2002","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"issue":"4","key":"10.1016\/j.bbagen.2021.129898_bb0410","doi-asserted-by":"crossref","first-page":"602","DOI":"10.1016\/S0021-9258(18)94398-X","article-title":"Characterization and quantitative determination of the hydroxylysine-linked carbohydrate units of several collagens","volume":"244","author":"Spiro","year":"1969","journal-title":"J. Biol. Chem."},{"issue":"19","key":"10.1016\/j.bbagen.2021.129898_bb0415","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1038\/newbio231054a0","article-title":"Glycosylation of hydroxylysine in collagens","volume":"231","author":"Spiro","year":"1971","journal-title":"Nat. New Biol."},{"issue":"6","key":"10.1016\/j.bbagen.2021.129898_bb0420","doi-asserted-by":"crossref","first-page":"843","DOI":"10.1002\/ana.25367","article-title":"Biallelic COLGALT1 variants are associated with cerebral small vessel disease","volume":"84","author":"Miyatake","year":"2018","journal-title":"Ann. Neurol."},{"issue":"2","key":"10.1016\/j.bbagen.2021.129898_bb0425","first-page":"293","article-title":"IUPAC-IUB joint commission on biochemical nomenclature (JCBN). Nomenclature of glycolipids--recommendations","volume":"257","author":"Chester","year":"1997","journal-title":"Eur. J. Biochem."},{"key":"10.1016\/j.bbagen.2021.129898_bb0430","series-title":"Textbook of Veterinary Physiological Chemistry, E.S.P.C. Inc.","first-page":"130","article-title":"Chapter 20 - glycoproteins and glycolipids","author":"Engelking","year":"2015"},{"issue":"5673","key":"10.1016\/j.bbagen.2021.129898_bb0435","doi-asserted-by":"crossref","first-page":"813","DOI":"10.1038\/274813a0","article-title":"Galactocerebroside is a specific cell-surface antigenic marker for oligodendrocytes in culture","volume":"274","author":"Raff","year":"1978","journal-title":"Nature"},{"issue":"3","key":"10.1016\/j.bbagen.2021.129898_bb0440","doi-asserted-by":"crossref","first-page":"1135","DOI":"10.1083\/jcb.101.3.1135","article-title":"Galactocerebroside is expressed by non-myelin-forming Schwann cells in situ","volume":"101","author":"Jessen","year":"1985","journal-title":"J. Cell Biol."},{"issue":"8","key":"10.1016\/j.bbagen.2021.129898_bb0445","doi-asserted-by":"crossref","first-page":"1437","DOI":"10.1194\/jlr.R026682","article-title":"Role of sulfatide in normal and pathological cells and tissues","volume":"53","author":"Takahashi","year":"2012","journal-title":"J. Lipid Res."},{"issue":"2","key":"10.1016\/j.bbagen.2021.129898_bb0450","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1016\/j.abb.2004.02.005","article-title":"The role of sulfatide in thrombogenesis and haemostasis","volume":"426","author":"Kyogashima","year":"2004","journal-title":"Arch. Biochem. Biophys."},{"key":"10.1016\/j.bbagen.2021.129898_bb0455","doi-asserted-by":"crossref","first-page":"90","DOI":"10.3389\/fimmu.2019.00090","article-title":"The role of Glycosphingolipids in immune cell functions","volume":"10","author":"Zhang","year":"2019","journal-title":"Front. Immunol."},{"issue":"2","key":"10.1016\/j.bbagen.2021.129898_bb0460","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1093\/jmcb\/mjq041","article-title":"Are globoseries glycosphingolipids SSEA-3 and -4 markers for stem cells derived from human umbilical cord blood?","volume":"3","author":"Suila","year":"2011","journal-title":"J. Mol. Cell Biol."},{"key":"10.1016\/j.bbagen.2021.129898_bb0465","doi-asserted-by":"crossref","first-page":"859","DOI":"10.3389\/fneur.2019.00859","article-title":"Gangliosides: treatment avenues in neurodegenerative disease","volume":"10","author":"Magistretti","year":"2019","journal-title":"Front. Neurol."},{"key":"10.1016\/j.bbagen.2021.129898_bb0470","doi-asserted-by":"crossref","first-page":"210","DOI":"10.3389\/fcell.2019.00210","article-title":"Monitoring the Sphingolipid de novo synthesis by stable-isotope labeling and liquid chromatography-mass spectrometry","volume":"7","author":"Wigger","year":"2019","journal-title":"Front Cell Dev Biol"},{"key":"10.1016\/j.bbagen.2021.129898_bb0475","series-title":"Handbook of Glycosyltransferases and Related Genes","first-page":"131","article-title":"UDP-Gal: ceramide galactosyltransferase (UGT8)","author":"Honke","year":"2014"},{"issue":"4","key":"10.1016\/j.bbagen.2021.129898_bb0480","doi-asserted-by":"crossref","first-page":"375","DOI":"10.1016\/j.semcdb.2004.03.007","article-title":"The cell biology of glycosphingolipids","volume":"15","author":"Degroote","year":"2004","journal-title":"Semin. Cell Dev. Biol."},{"issue":"11","key":"10.1016\/j.bbagen.2021.129898_bb0485","doi-asserted-by":"crossref","first-page":"2511","DOI":"10.1016\/j.bbamcr.2013.04.010","article-title":"The complexity of sphingolipid biosynthesis in the endoplasmic reticulum","volume":"1833","author":"Tidhar","year":"2013","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.bbagen.2021.129898_bb0490","doi-asserted-by":"crossref","first-page":"505","DOI":"10.1007\/978-981-13-2835-0_17","volume":"90","author":"Dall'Olio","year":"2018","journal-title":"Glycobiology of Aging. Subcell Biochem"},{"issue":"5","key":"10.1016\/j.bbagen.2021.129898_bb0495","doi-asserted-by":"crossref","first-page":"618","DOI":"10.1203\/00006450-200211000-00003","article-title":"Congenital disorders of glycosylation: a review","volume":"52","author":"Grunewald","year":"2002","journal-title":"Pediatr. Res."},{"issue":"4","key":"10.1016\/j.bbagen.2021.129898_bb0500","doi-asserted-by":"crossref","first-page":"569","DOI":"10.1007\/s10545-017-0050-6","article-title":"What is new in CDG?","volume":"40","author":"Jaeken","year":"2017","journal-title":"J. Inherit. Metab. Dis."},{"issue":"11","key":"10.1016\/j.bbagen.2021.129898_bb0505","doi-asserted-by":"crossref","first-page":"1222","DOI":"10.3390\/nu9111222","article-title":"Nutritional therapies in congenital disorders of glycosylation (CDG)","volume":"9","author":"Witters","year":"2017","journal-title":"Nutrients"},{"issue":"11","key":"10.1016\/j.bbagen.2021.129898_bb0510","doi-asserted-by":"crossref","first-page":"643","DOI":"10.1016\/j.ejmg.2017.10.012","article-title":"Congenital disorders of glycosylation (CDG): quo vadis?","volume":"61","author":"P\u00e9anne","year":"2018","journal-title":"Eur. J. Medical Genet."},{"issue":"3","key":"10.1016\/j.bbagen.2021.129898_bb0515","doi-asserted-by":"crossref","first-page":"541","DOI":"10.1007\/s10545-018-0156-5","article-title":"Recognizable phenotypes in CDG","volume":"41","author":"Ferreira","year":"2018","journal-title":"J. Inherit. Metab. Dis."},{"issue":"1","key":"10.1016\/j.bbagen.2021.129898_bb0520","doi-asserted-by":"crossref","first-page":"129751","DOI":"10.1016\/j.bbagen.2020.129751","article-title":"Congenital disorders of glycosylation: still \u201chot\u201d in 2020","volume":"2021","author":"Ondruskova","year":"1865","journal-title":"Biochim. Biophys. Acta Gen. Subj."},{"key":"10.1016\/j.bbagen.2021.129898_bb0525","first-page":"799","article-title":"Zuckerausscheidung im S\u00e4uglingsalter","volume":"58","author":"Von Reuss","year":"1908","journal-title":"Wien. Med. Wochenschr."},{"key":"10.1016\/j.bbagen.2021.129898_bb0530","series-title":"JIMD Reports","first-page":"33","article-title":"Classical galactosaemia and CDG, the N-glycosylation interface. A review","volume":"Volume 34","author":"Maratha","year":"2016"},{"issue":"4","key":"10.1016\/j.bbagen.2021.129898_bb0535","doi-asserted-by":"crossref","first-page":"316","DOI":"10.1016\/j.ymgme.2006.07.005","article-title":"The endocrine system in treated patients with classical galactosemia","volume":"89","author":"Rubio-Gozalbo","year":"2006","journal-title":"Mol. Genet. Metab."},{"issue":"2","key":"10.1016\/j.bbagen.2021.129898_bb0540","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1016\/j.gene.2015.06.077","article-title":"The molecular basis of galactosemia - past, present and future","volume":"589","author":"Timson","year":"2016","journal-title":"Gene"},{"issue":"10","key":"10.1016\/j.bbagen.2021.129898_bb0545","doi-asserted-by":"crossref","first-page":"939","DOI":"10.1002\/humu.20544","article-title":"Mutation database for the galactose-1-phosphate uridyltransferase (GALT) gene","volume":"28","author":"Calderon","year":"2007","journal-title":"Hum. Mutat."},{"issue":"1","key":"10.1016\/j.bbagen.2021.129898_bb0550","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1016\/S1525-1578(10)60450-3","article-title":"Analysis of common mutations in the galactose-1-phosphate uridyl transferase gene: new assays to increase the sensitivity and specificity of newborn screening for galactosemia","volume":"5","author":"Dobrowolski","year":"2003","journal-title":"The Journal of molecular diagnostics"},{"key":"10.1016\/j.bbagen.2021.129898_bb0555","series-title":"Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease","first-page":"615","article-title":"Disorders of galactose metabolism","author":"Berry","year":"2015"},{"issue":"9\u201310","key":"10.1016\/j.bbagen.2021.129898_bb0560","first-page":"1139","article-title":"Literature review and outcome of classic galactosemia diagnosed in the neonatal period","volume":"59","author":"Karadag","year":"2013","journal-title":"Clin. Lab."},{"issue":"6","key":"10.1016\/j.bbagen.2021.129898_bb0565","first-page":"262","article-title":"Galactosemia: clinical features, diagnosis and management. A case report","volume":"147","author":"Lewis","year":"1995","journal-title":"J. La State Med. Soc."},{"issue":"1","key":"10.1016\/j.bbagen.2021.129898_bb0570","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1016\/j.ymgme.2012.03.007","article-title":"Galactosemia: when is it a newborn screening emergency?","volume":"106","author":"Berry","year":"2012","journal-title":"Mol. Genet. Metab."},{"issue":"9","key":"10.1016\/j.bbagen.2021.129898_bb0575","doi-asserted-by":"crossref","first-page":"1003","DOI":"10.4155\/fmc.14.43","article-title":"GALK inhibitors for classic galactosemia","volume":"6","author":"Lai","year":"2014","journal-title":"Future Med. Chem."},{"issue":"3","key":"10.1016\/j.bbagen.2021.129898_bb0580","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1016\/j.ymgme.2016.12.012","article-title":"Nine years of newborn screening for classical galactosemia in the Netherlands: effectiveness of screening methods, and identification of patients with previously unreported phenotypes","volume":"120","author":"Welling","year":"2017","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.bbagen.2021.129898_bb0585","first-page":"79","article-title":"Newborn screening for galactosemia in the United States: looking back, looking around, and looking ahead","volume":"15","author":"Pyhtila","year":"2015","journal-title":"JIMD Rep"},{"issue":"2","key":"10.1016\/j.bbagen.2021.129898_bb0590","doi-asserted-by":"crossref","first-page":"212","DOI":"10.1016\/j.ymgme.2011.10.018","article-title":"IgG N-glycans as potential biomarkers for determining galactose tolerance in classical Galactosaemia","volume":"105","author":"Coss","year":"2012","journal-title":"Mol. Genet. Metab."},{"issue":"3","key":"10.1016\/j.bbagen.2021.129898_bb0595","doi-asserted-by":"crossref","first-page":"272","DOI":"10.1038\/pr.2015.107","article-title":"Effects of temporary low-dose galactose supplements in children aged 5\u201312 y with classical galactosemia: a pilot study","volume":"78","author":"Knerr","year":"2015","journal-title":"Pediatr. Res."},{"issue":"8","key":"10.1016\/j.bbagen.2021.129898_bb0600","doi-asserted-by":"crossref","first-page":"629","DOI":"10.1023\/A:1022875629436","article-title":"Clinical features of galactokinase deficiency: a review of the literature","volume":"25","author":"Bosch","year":"2002","journal-title":"J. Inherit. Metab. Dis."},{"issue":"5","key":"10.1016\/j.bbagen.2021.129898_bb0605","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1177\/1087057108318331","article-title":"High-throughput screening for human galactokinase inhibitors","volume":"13","author":"Wierenga","year":"2008","journal-title":"J. Biomol. Screen."},{"issue":"3","key":"10.1016\/j.bbagen.2021.129898_bb0610","doi-asserted-by":"crossref","first-page":"721","DOI":"10.1016\/j.bmcl.2014.11.061","article-title":"Structure activity relationships of human galactokinase inhibitors","volume":"25","author":"Liu","year":"2015","journal-title":"Bioorg. Med. Chem. Lett."},{"issue":"1","key":"10.1016\/j.bbagen.2021.129898_bb0615","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1016\/j.ymgme.2011.09.028","article-title":"Innovative therapy for classic Galactosemia - tale of two HTS","volume":"105","author":"Tang","year":"2012","journal-title":"Mol. Genet. Metab."},{"issue":"1","key":"10.1016\/j.bbagen.2021.129898_bb0620","doi-asserted-by":"crossref","first-page":"108","DOI":"10.1007\/s10545-007-0790-9","article-title":"Analysis of UDP-galactose 4\u2032-epimerase mutations associated with the intermediate form of type III galactosaemia","volume":"31","author":"Chhay","year":"2008","journal-title":"J. Inherit. Metab. Dis."},{"issue":"6","key":"10.1016\/j.bbagen.2021.129898_bb0625","doi-asserted-by":"crossref","first-page":"1286","DOI":"10.1038\/s41436-018-0340-x","article-title":"Biallelic GALM pathogenic variants cause a novel type of galactosemia","volume":"21","author":"Wada","year":"2018","journal-title":"Genet. Med."},{"issue":"4","key":"10.1016\/j.bbagen.2021.129898_bb0630","doi-asserted-by":"crossref","first-page":"362","DOI":"10.1016\/j.ymgme.2019.01.018","article-title":"The prevalence of GALM mutations that cause galactosemia: a database of functionally evaluated variants","volume":"126","author":"Iwasawa","year":"2019","journal-title":"Mol. Genet. Metab."},{"issue":"4","key":"10.1016\/j.bbagen.2021.129898_bb0635","doi-asserted-by":"crossref","first-page":"425","DOI":"10.1056\/NEJMc0901158","article-title":"Muscle glycogenosis due to phosphoglucomutase 1 deficiency","volume":"361","author":"Stojkovic","year":"2009","journal-title":"N. Engl. J. Med."},{"issue":"11","key":"10.1016\/j.bbagen.2021.129898_bb0640","doi-asserted-by":"crossref","first-page":"1226","DOI":"10.1038\/gim.2017.41","article-title":"Oral D-galactose supplementation in PGM1-CDG","volume":"19","author":"Wong","year":"2017","journal-title":"Genet Med"},{"issue":"6","key":"10.1016\/j.bbagen.2021.129898_bb0645","doi-asserted-by":"crossref","first-page":"533","DOI":"10.1056\/NEJMoa1206605","article-title":"Multiple phenotypes in phosphoglucomutase 1 deficiency","volume":"370","author":"Tegtmeyer","year":"2014","journal-title":"N. Engl. J. Med."},{"issue":"2","key":"10.1016\/j.bbagen.2021.129898_bb0650","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1203\/01.pdr.0000196378.30165.26","article-title":"Cryptogenic liver disease in four children: a novel congenital disorder of glycosylation","volume":"59","author":"Mandato","year":"2006","journal-title":"Pediatr. Res."},{"issue":"6","key":"10.1016\/j.bbagen.2021.129898_bb0655","doi-asserted-by":"crossref","first-page":"691","DOI":"10.1016\/j.bbadis.2011.02.011","article-title":"Clinical and diagnostic approach in unsolved CDG patients with a type 2 transferrin pattern","volume":"1812","author":"Mohamed","year":"2011","journal-title":"Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease"},{"issue":"3","key":"10.1016\/j.bbagen.2021.129898_bb0660","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1007\/s10545-012-9525-7","article-title":"A novel congenital disorder of glycosylation type without central nervous system involvement caused by mutations in the phosphoglucomutase 1 gene","volume":"36","author":"P\u00e9rez","year":"2013","journal-title":"J. Inherit. Metab. Dis."},{"issue":"19","key":"10.1016\/j.bbagen.2021.129898_bb0665","doi-asserted-by":"crossref","first-page":"4151","DOI":"10.1093\/hmg\/dds123","article-title":"Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing","volume":"21","author":"Timal","year":"2012","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.bbagen.2021.129898_bb0670","doi-asserted-by":"crossref","first-page":"130","DOI":"10.1016\/j.jpeds.2016.04.021","article-title":"Defining the phenotype and assessing severity in phosphoglucomutase-1 deficiency","volume":"175","author":"Wong","year":"2016","journal-title":"J. Pediatr."},{"issue":"1\u20132","key":"10.1016\/j.bbagen.2021.129898_bb0675","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1016\/j.ymgme.2020.08.003","article-title":"Phosphoglucomutase-1 deficiency: early presentation, metabolic management and detection in neonatal blood spots","volume":"131","author":"Conte","year":"2020","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.bbagen.2021.129898_bb0680","first-page":"35(2)","article-title":"Glycogen storage disease-like phenotype with central nervous system involvement in a PGM1-CDG patient","author":"Ondruskova","year":"2014","journal-title":"Neuroendocrinol. Lett."},{"issue":"3","key":"10.1016\/j.bbagen.2021.129898_bb0685","doi-asserted-by":"crossref","first-page":"200","DOI":"10.1016\/j.ymgme.2018.08.008","article-title":"Central nervous involvement is common in PGM1-CDG","volume":"125","author":"Radenkovic","year":"2018","journal-title":"Mol. Genet. Metab."},{"issue":"1","key":"10.1016\/j.bbagen.2021.129898_bb0690","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1002\/jimd.12286","article-title":"International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): diagnosis, follow-up, and management","volume":"44","author":"Altassan","year":"2021","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.bbagen.2021.129898_bb0695","first-page":"33","article-title":"Limitations of galactose therapy in phosphoglucomutase 1 deficiency","volume":"13","author":"Nolting","year":"2017","journal-title":"Mol Genet Metab Rep"},{"issue":"8","key":"10.1016\/j.bbagen.2021.129898_bb0700","doi-asserted-by":"crossref","first-page":"3482","DOI":"10.1091\/mbc.e03-03-0130","article-title":"Association of the Golgi UDP-galactose transporter with UDP-galactose:ceramide galactosyltransferase allows UDP-galactose import in the endoplasmic reticulum","volume":"14","author":"Sprong","year":"2003","journal-title":"Mol. Biol. Cell"},{"issue":"25","key":"10.1016\/j.bbagen.2021.129898_bb0705","doi-asserted-by":"crossref","first-page":"15475","DOI":"10.1074\/jbc.M115.636670","article-title":"UDP-galactose (SLC35A2) and UDP-N-acetylglucosamine (SLC35A3) transporters form glycosylation-related complexes with Mannoside Acetylglucosaminyltransferases (Mgats)","volume":"290","author":"Maszczak-Seneczko","year":"2015","journal-title":"J. Biol. Chem."},{"issue":"5","key":"10.1016\/j.bbagen.2021.129898_bb0710","doi-asserted-by":"crossref","first-page":"615","DOI":"10.1111\/cge.13508","article-title":"Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain","volume":"95","author":"Medrano","year":"2019","journal-title":"Clin. Genet."},{"issue":"12","key":"10.1016\/j.bbagen.2021.129898_bb0715","doi-asserted-by":"crossref","first-page":"1708","DOI":"10.1002\/humu.22446","article-title":"De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy","volume":"34","author":"Kodera","year":"2013","journal-title":"Hum. Mutat."},{"issue":"5","key":"10.1016\/j.bbagen.2021.129898_bb0720","doi-asserted-by":"crossref","first-page":"931","DOI":"10.1007\/s10545-015-9828-6","article-title":"A new case of UDP-galactose transporter deficiency (SLC35A2-CDG): molecular basis, clinical phenotype, and therapeutic approach","volume":"38","author":"D\u00f6rre","year":"2015","journal-title":"J. Inherit. Metab. Dis."},{"issue":"3","key":"10.1016\/j.bbagen.2021.129898_bb0725","doi-asserted-by":"crossref","first-page":"256","DOI":"10.1016\/j.braindev.2016.09.009","article-title":"A case of early onset epileptic encephalopathy with de novo mutation in SLC35A2: clinical features and treatment for epilepsy","volume":"39","author":"Kimizu","year":"2017","journal-title":"Brain and Development"},{"issue":"1","key":"10.1016\/j.bbagen.2021.129898_bb0730","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1186\/s12881-018-0617-6","article-title":"Mosaicism of the UDP-Galactose transporter SLC35A2 in a female causing a congenital disorder of glycosylation: a case report","volume":"19","author":"Westenfield","year":"2018","journal-title":"BMC Med. Genet."},{"issue":"6","key":"10.1016\/j.bbagen.2021.129898_bb0735","doi-asserted-by":"crossref","first-page":"1095","DOI":"10.1016\/j.ejpn.2018.08.002","article-title":"SLC35A2-related congenital disorder of glycosylation: defining the phenotype","volume":"22","author":"Yates","year":"2018","journal-title":"Eur. J. Paediatr. Neurol."},{"issue":"3","key":"10.1016\/j.bbagen.2021.129898_bb0740","doi-asserted-by":"crossref","first-page":"553","DOI":"10.1002\/jimd.12055","article-title":"Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patients","volume":"42","author":"Vals","year":"2019","journal-title":"J. Inherit. Metab. Dis."},{"issue":"7","key":"10.1016\/j.bbagen.2021.129898_bb0745","first-page":"908","article-title":"SLC35A2-CDG: functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported individuals","volume":"40","author":"Ng","year":"2019","journal-title":"Hum. Mutat."},{"issue":"8","key":"10.1016\/j.bbagen.2021.129898_bb0750","doi-asserted-by":"crossref","DOI":"10.1002\/mgg3.814","article-title":"A case of de novo splice site variant in SLC35A2 showing developmental delays, spastic paraplegia, and delayed myelination","volume":"7","author":"Miyamoto","year":"2019","journal-title":"Mol Genet Genomic Med"},{"issue":"3","key":"10.1016\/j.bbagen.2021.129898_bb0755","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1136\/jmedgenet-2015-103568","article-title":"Identification of novel genetic causes of Rett syndrome-like phenotypes","volume":"53","author":"Lopes","year":"2016","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.bbagen.2021.129898_bb0760","doi-asserted-by":"crossref","first-page":"106181","DOI":"10.1016\/j.eplepsyres.2019.106181","article-title":"Genetic heterogeneity in infantile spasms","volume":"156","author":"Muir","year":"2019","journal-title":"Epilepsy Res."},{"issue":"6","key":"10.1016\/j.bbagen.2021.129898_bb0765","doi-asserted-by":"crossref","first-page":"885","DOI":"10.1007\/s00401-019-02061-5","article-title":"Dissecting the genetic basis of focal cortical dysplasia: a large cohort study","volume":"138","author":"Baldassari","year":"2019","journal-title":"Acta Neuropathol."},{"issue":"6","key":"10.1016\/j.bbagen.2021.129898_bb0770","doi-asserted-by":"crossref","first-page":"710","DOI":"10.1016\/j.jped.2019.05.008","article-title":"Transferrin isoelectric focusing for the investigation of congenital disorders of glycosylation: analysis of a ten-year experience in a Brazilian center","volume":"96","author":"Magalh\u00e3es","year":"2019","journal-title":"J. Pediatr."},{"issue":"6","key":"10.1016\/j.bbagen.2021.129898_bb0775","doi-asserted-by":"crossref","first-page":"1133","DOI":"10.1002\/ana.25243","article-title":"Somatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy","volume":"83","author":"Winawer","year":"2018","journal-title":"Ann. Neurol."},{"issue":"6","key":"10.1016\/j.bbagen.2021.129898_bb0780","doi-asserted-by":"crossref","DOI":"10.1212\/NXG.0000000000000294","article-title":"Brain somatic mutations in SLC35A2 cause intractable epilepsy with aberrant N-glycosylation","volume":"4","author":"Sim","year":"2018","journal-title":"Neurol Genet"},{"issue":"6","key":"10.1016\/j.bbagen.2021.129898_bb0785","doi-asserted-by":"crossref","first-page":"639","DOI":"10.1016\/j.trsl.2015.07.005","article-title":"High-resolution mass spectrometry glycoprofiling of intact transferrin for diagnosis and subtype identification in the congenital disorders of glycosylation","volume":"166","author":"van Scherpenzeel","year":"2015","journal-title":"Transl. Res."},{"issue":"6","key":"10.1016\/j.bbagen.2021.129898_bb0790","doi-asserted-by":"crossref","first-page":"1102","DOI":"10.1038\/s41436-020-0767-8","article-title":"Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG","volume":"22","author":"Witters","year":"2020","journal-title":"Genet Med"},{"issue":"10","key":"10.1016\/j.bbagen.2021.129898_bb0795","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0205571","article-title":"The dimeric structure of wild-type human glycosyltransferase B4GalT1","volume":"13","author":"Harrus","year":"2018","journal-title":"PLoS One"},{"issue":"5","key":"10.1016\/j.bbagen.2021.129898_bb0800","doi-asserted-by":"crossref","first-page":"593","DOI":"10.1016\/j.sbi.2004.09.006","article-title":"Structure and catalytic cycle of beta-1,4-galactosyltransferase","volume":"14","author":"Ramakrishnan","year":"2004","journal-title":"Curr. Opin. Struct. Biol."},{"issue":"5","key":"10.1016\/j.bbagen.2021.129898_bb0805","doi-asserted-by":"crossref","first-page":"1619","DOI":"10.1016\/j.jmb.2006.01.088","article-title":"Structural snapshots of beta-1,4-galactosyltransferase-I along the kinetic pathway","volume":"357","author":"Ramakrishnan","year":"2006","journal-title":"J. Mol. Biol."},{"issue":"7","key":"10.1016\/j.bbagen.2021.129898_bb0810","doi-asserted-by":"crossref","first-page":"1391","DOI":"10.1016\/S0021-9258(18)96104-1","article-title":"The isolation and identification of the B protein of lactose synthetase as alpha-lactalbumin","volume":"242","author":"Brodbeck","year":"1967","journal-title":"J. Biol. Chem."},{"issue":"1","key":"10.1016\/j.bbagen.2021.129898_bb0815","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1006\/jmbi.2001.4757","article-title":"Crystal structure of lactose synthase reveals a large conformational change in its catalytic component, the beta1,4-galactosyltransferase-I","volume":"310","author":"Ramakrishnan","year":"2001","journal-title":"J. Mol. Biol."},{"issue":"1","key":"10.1016\/j.bbagen.2021.129898_bb0820","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1055\/s-2002-23597","article-title":"Congenital disorder of glycosylation IId (CDG-IId) -- a new entity: clinical presentation with Dandy-Walker malformation and myopathy","volume":"33","author":"Peters","year":"2002","journal-title":"Neuropediatrics"},{"issue":"6","key":"10.1016\/j.bbagen.2021.129898_bb0825","doi-asserted-by":"crossref","first-page":"1041","DOI":"10.1016\/j.jpeds.2011.08.007","article-title":"B4GALT1-congenital disorders of glycosylation presents as a non-neurologic glycosylation disorder with hepatointestinal involvement","volume":"159","author":"Guillard","year":"2011","journal-title":"J. Pediatr."},{"issue":"3","key":"10.1016\/j.bbagen.2021.129898_bb0830","doi-asserted-by":"crossref","first-page":"611","DOI":"10.1002\/jimd.12200","article-title":"Reduced CETP glycosylation and activity in patients with homozygous B4GALT1 mutations","volume":"43","author":"van den Boogert","year":"2020","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.bbagen.2021.129898_bb0835","first-page":"9(11)","article-title":"Nutritional therapies in congenital disorders of glycosylation (CDG)","author":"Witters","year":"2017","journal-title":"Nutrients"},{"issue":"6","key":"10.1016\/j.bbagen.2021.129898_bb0840","doi-asserted-by":"crossref","first-page":"894","DOI":"10.1016\/j.ajhg.2015.11.003","article-title":"SLC39A8 deficiency: a disorder of manganese transport and glycosylation","volume":"97","author":"Park","year":"2015","journal-title":"Am. J. Hum. Genet."},{"issue":"1","key":"10.1016\/j.bbagen.2021.129898_bb0845","doi-asserted-by":"crossref","first-page":"3163","DOI":"10.1038\/s41598-018-21464-0","article-title":"Functional analysis of SLC39A8 mutations and their implications for manganese deficiency and mitochondrial disorders","volume":"8","author":"Choi","year":"2018","journal-title":"Sci. Rep."},{"issue":"2","key":"10.1016\/j.bbagen.2021.129898_bb0850","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1007\/s10545-016-0010-6","article-title":"A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders","volume":"40","author":"Riley","year":"2017","journal-title":"J. Inherit. Metab. Dis."},{"issue":"Suppl. 1","key":"10.1016\/j.bbagen.2021.129898_bb0855","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1186\/s40246-019-0233-3","article-title":"SLC39A8 gene encoding a metal ion transporter: discovery and bench to bedside","volume":"13","author":"Nebert","year":"2019","journal-title":"Hum Genomics"},{"issue":"2","key":"10.1016\/j.bbagen.2021.129898_bb0860","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1038\/gim.2017.106","article-title":"SLC39A8 deficiency: biochemical correction and major clinical improvement by manganese therapy","volume":"20","author":"Park","year":"2018","journal-title":"Genetics in Medicine"},{"issue":"6","key":"10.1016\/j.bbagen.2021.129898_bb0865","doi-asserted-by":"crossref","first-page":"886","DOI":"10.1016\/j.ajhg.2015.11.002","article-title":"Autosomal-recessive intellectual disability with cerebellar atrophy syndrome caused by mutation of the manganese and zinc transporter gene SLC39A8","volume":"97","author":"Boycott","year":"2015","journal-title":"Am. J. Hum. Genet."},{"issue":"4","key":"10.1016\/j.bbagen.2021.129898_bb0870","doi-asserted-by":"crossref","first-page":"1375","DOI":"10.1210\/jc.2016-3443","article-title":"Galactose supplementation in patients with TMEM165-CDG rescues the glycosylation defects","volume":"102","author":"Morelle","year":"2017","journal-title":"J. Clin. Endocrinol. Metab."},{"issue":"1","key":"10.1016\/j.bbagen.2021.129898_bb0875","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1016\/j.ajhg.2012.05.002","article-title":"TMEM165 deficiency causes a congenital disorder of glycosylation","volume":"91","author":"Foulquier","year":"2012","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.bbagen.2021.129898_bb0880","series-title":"UniProtKB - Q9HC07 (TM165_HUMAN)","author":"Uniprot","year":"2019"},{"issue":"3","key":"10.1016\/j.bbagen.2021.129898_bb0885","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1001\/jama.281.3.249","article-title":"Prevalence of lysosomal storage disorders","volume":"281","author":"Meikle","year":"1999","journal-title":"Jama"},{"key":"10.1016\/j.bbagen.2021.129898_bb0890","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1016\/j.carpath.2018.11.002","article-title":"Lysosomal storage disorders affecting the heart: a review","volume":"39","author":"Nair","year":"2019","journal-title":"Cardiovasc. Pathol."},{"issue":"1","key":"10.1016\/j.bbagen.2021.129898_bb0895","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1006\/mgme.2000.2990","article-title":"Krabbe disease: genetic aspects and progress toward therapy","volume":"70","author":"Wenger","year":"2000","journal-title":"Mol. Genet. Metab."},{"issue":"2","key":"10.1016\/j.bbagen.2021.129898_bb0900","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1212\/01.wnl.0000231531.73713.a9","article-title":"Peripheral nerve involvement in Krabbe disease: a guide to therapy selection and evaluation","volume":"67","author":"Moser","year":"2006","journal-title":"Neurology"},{"issue":"11","key":"10.1016\/j.bbagen.2021.129898_bb0905","doi-asserted-by":"crossref","first-page":"1857","DOI":"10.1182\/blood-2009-12-256461","article-title":"The galactocerebrosidase enzyme contributes to the maintenance of a functional hematopoietic stem cell niche","volume":"116","author":"Visigalli","year":"2010","journal-title":"Blood"},{"key":"10.1016\/j.bbagen.2021.129898_bb0910","first-page":"1","article-title":"Molecular dynamics simulations to decipher the structural and functional consequences of pathogenic missense mutations in the galactosylceramidase (GALC) protein causing Krabbe\u2019s disease","author":"Dv","year":"2020","journal-title":"J. Biomol. Struct. Dyn."},{"issue":"11","key":"10.1016\/j.bbagen.2021.129898_bb0915","doi-asserted-by":"crossref","first-page":"1118","DOI":"10.1002\/jnr.23891","article-title":"Clinical management of Krabbe disease","volume":"94","author":"Escolar","year":"2016","journal-title":"J. Neurosci. Res."},{"issue":"9","key":"10.1016\/j.bbagen.2021.129898_bb0920","doi-asserted-by":"crossref","first-page":"595","DOI":"10.1177\/08830738030180090201","article-title":"Globoid cell leukodystrophy (Krabbe\u2019s disease): update","volume":"18","author":"Suzuki","year":"2003","journal-title":"J. Child Neurol."},{"issue":"1","key":"10.1016\/j.bbagen.2021.129898_bb0925","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1186\/s13023-018-0766-x","article-title":"Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease","volume":"13","author":"Kwon","year":"2018","journal-title":"Orphanet J Rare Dis"},{"issue":"11","key":"10.1016\/j.bbagen.2021.129898_bb0930","doi-asserted-by":"crossref","first-page":"2113","DOI":"10.1007\/s11255-020-02546-3","article-title":"Fabry disease: where are we now?","volume":"52","author":"Turkmen","year":"2020","journal-title":"Int. Urol. Nephrol."},{"issue":"1","key":"10.1016\/j.bbagen.2021.129898_bb0935","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1016\/j.pharmthera.2009.01.003","article-title":"Fabry disease","volume":"122","author":"Schiffmann","year":"2009","journal-title":"Pharmacol. Ther."},{"key":"10.1016\/j.bbagen.2021.129898_bb0940","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1111\/j.1365-2133.1898.tb16317.x","article-title":"A case of angiokeratoma","volume":"10","author":"Anderson","year":"1898","journal-title":"Br. J. Dermatol."},{"issue":"1","key":"10.1016\/j.bbagen.2021.129898_bb0945","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1086\/504601","article-title":"High incidence of later-onset fabry disease revealed by newborn screening","volume":"79","author":"Spada","year":"2006","journal-title":"Am. J. Hum. Genet."},{"issue":"4","key":"10.1016\/j.bbagen.2021.129898_bb0950","doi-asserted-by":"crossref","first-page":"274","DOI":"10.1016\/j.tcm.2017.10.001","article-title":"Fabry disease: review and experience during newborn screening","volume":"28","author":"Hsu","year":"2018","journal-title":"Trends Cardiovasc Med"},{"key":"10.1016\/j.bbagen.2021.129898_bb0955","series-title":"Fabry Disease","author":"Lenders","year":"2021"},{"key":"10.1016\/j.bbagen.2021.129898_bb0960","series-title":"Fabry Disease: Perspectives from 5 Years of FOS","article-title":"The genetic basis of Fabry disease","author":"Gal","year":"2006"},{"issue":"33","key":"10.1016\/j.bbagen.2021.129898_bb0965","doi-asserted-by":"crossref","first-page":"5974","DOI":"10.2174\/13816128113199990352","article-title":"Anderson-Fabry disease: a multiorgan disease","volume":"19","author":"Tuttolomondo","year":"2013","journal-title":"Curr. Pharm. Des."},{"issue":"10","key":"10.1016\/j.bbagen.2021.129898_bb0970","doi-asserted-by":"crossref","first-page":"1060","DOI":"10.1002\/humu.9451","article-title":"Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B patients: possible common origin for the prevalent p.R59H mutation among gypsies","volume":"27","author":"Santamaria","year":"2006","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.bbagen.2021.129898_bb0975","series-title":"The Metabolic and Molecular Bases of Inherited Disease","first-page":"3775","article-title":"\u03b2-Galactosidase deficiency (\u03b2-galactosidosis) GM1 gangliosidosis and Morquio B disease","author":"Suzuki","year":"2001"},{"issue":"3","key":"10.1016\/j.bbagen.2021.129898_bb0980","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1016\/j.ymgme.2019.12.012","article-title":"The natural history of Type 1 infantile GM1 gangliosidosis: a literature-based meta-analysis","volume":"129","author":"Lang","year":"2020","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.bbagen.2021.129898_bb0985","first-page":"57","article-title":"Morquio B patient\/caregiver survey: first insight into the natural course of a rare GLB1 related condition","volume":"16","author":"Bleier","year":"2018","journal-title":"Mol Genet Metab Rep"},{"key":"10.1016\/j.bbagen.2021.129898_bb0990","first-page":"21(23)","article-title":"Morquio B disease. disease characteristics and treatment options of a distinct GLB1-related dysostosis multiplex","author":"Yuskiv","year":"2020","journal-title":"Int. J. Mol. Sci."},{"key":"10.1016\/j.bbagen.2021.129898_bb0995","doi-asserted-by":"crossref","first-page":"114","DOI":"10.1186\/1750-1172-8-114","article-title":"Galactosialidosis: review and analysis of CTSA gene mutations","volume":"8","author":"Caciotti","year":"2013","journal-title":"Orphanet J Rare Dis"},{"issue":"22","key":"10.1016\/j.bbagen.2021.129898_bb1000","doi-asserted-by":"crossref","first-page":"14754","DOI":"10.1016\/S0021-9258(18)98751-X","article-title":"Human lysosomal protective protein has cathepsin A-like activity distinct from its protective function","volume":"266","author":"Galjart","year":"1991","journal-title":"J. Biol. Chem."},{"issue":"6","key":"10.1016\/j.bbagen.2021.129898_bb1005","doi-asserted-by":"crossref","first-page":"1453","DOI":"10.1042\/BST0381453","article-title":"Molecular mechanisms of pathogenesis in a glycosphingolipid and a glycoprotein storage disease","volume":"38","author":"d\u2019Azzo","year":"2010","journal-title":"Biochem. Soc. Trans."},{"issue":"15","key":"10.1016\/j.bbagen.2021.129898_bb1010","doi-asserted-by":"crossref","first-page":"4535","DOI":"10.1073\/pnas.79.15.4535","article-title":"Molecular defect in combined beta-galactosidase and neuraminidase deficiency in man","volume":"79","author":"d\u2019Azzo","year":"1982","journal-title":"Proc. Natl. Acad. Sci."},{"issue":"4","key":"10.1016\/j.bbagen.2021.129898_bb1015","doi-asserted-by":"crossref","first-page":"340","DOI":"10.1212\/WNL.18.4.340","article-title":"Late infantile systemic lipidosis. Major monosialogangliosidosis. Delineation of two types","volume":"18","author":"Derry","year":"1968","journal-title":"Neurology"},{"issue":"6","key":"10.1016\/j.bbagen.2021.129898_bb1020","doi-asserted-by":"crossref","first-page":"553","DOI":"10.1016\/j.ejpn.2008.11.003","article-title":"Juvenile galactosialidosis with attacks of neuropathic pain and absence of sialyloligosacchariduria","volume":"13","author":"Darin","year":"2009","journal-title":"Eur. J. Paediatr. Neurol."},{"issue":"1","key":"10.1016\/j.bbagen.2021.129898_bb1025","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1016\/j.ymgme.2012.02.004","article-title":"Emphysema in an adult with galactosialidosis linked to a defect in primary elastic fiber assembly","volume":"106","author":"Lehman","year":"2012","journal-title":"Mol. Genet. Metab."},{"issue":"2","key":"10.1016\/j.bbagen.2021.129898_bb1030","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1080\/21678707.2016.1266933","article-title":"Galactosialidosis: historic aspects and overview of investigated and emerging treatment options","volume":"5","author":"Annunziata","year":"2017","journal-title":"Expert Opin Orphan Drugs"}],"container-title":["Biochimica et Biophysica Acta (BBA) - General Subjects"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0304416521000568?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0304416521000568?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,5]],"date-time":"2025-10-05T04:09:56Z","timestamp":1759637396000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0304416521000568"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,8]]},"references-count":206,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2021,8]]}},"alternative-id":["S0304416521000568"],"URL":"https:\/\/doi.org\/10.1016\/j.bbagen.2021.129898","relation":{},"ISSN":["0304-4165"],"issn-type":[{"value":"0304-4165","type":"print"}],"subject":[],"published":{"date-parts":[[2021,8]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Galactose in human metabolism, glycosylation and congenital metabolic diseases: Time for a closer look","name":"articletitle","label":"Article Title"},{"value":"Biochimica et Biophysica Acta (BBA) - General Subjects","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.bbagen.2021.129898","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2021 The Author(s). Published by Elsevier B.V.","name":"copyright","label":"Copyright"}],"article-number":"129898"}}