{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T11:46:53Z","timestamp":1791978413391,"version":"4.4.0"},"reference-count":47,"publisher":"Oxford University Press (OUP)","issue":"17","license":[{"start":{"date-parts":[[2018,6,5]],"date-time":"2018-06-05T00:00:00Z","timestamp":1528156800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"funder":[{"DOI":"10.13039\/501100001826","name":"Netherlands Organisation for Health Research and Development","doi-asserted-by":"publisher","award":["722015012"],"award-info":[{"award-number":["722015012"]}],"id":[{"id":"10.13039\/501100001826","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000038","name":"Natural Sciences and Engineering Research Council of Canada","doi-asserted-by":"publisher","award":["RGPIN 05389\u201314"],"award-info":[{"award-number":["RGPIN 05389\u201314"]}],"id":[{"id":"10.13039\/501100000038","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009408","name":"Brain Canada Foundation","doi-asserted-by":"publisher","award":["PSG14\u20133505"],"award-info":[{"award-number":["PSG14\u20133505"]}],"id":[{"id":"10.13039\/100009408","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009408","name":"Brain Canada Foundation","doi-asserted-by":"publisher","award":["26233"],"award-info":[{"award-number":["26233"]}],"id":[{"id":"10.13039\/100009408","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000008","name":"Health Canada","doi-asserted-by":"publisher","award":["PSG14\u20133505"],"award-info":[{"award-number":["PSG14\u20133505"]}],"id":[{"id":"10.13039\/501100000008","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000008","name":"Health Canada","doi-asserted-by":"publisher","award":["26233"],"award-info":[{"award-number":["26233"]}],"id":[{"id":"10.13039\/501100000008","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Ministry of Health of Malaysia","award":["R02087"],"award-info":[{"award-number":["R02087"]}]},{"DOI":"10.13039\/501100007601","name":"European Union Framework Programme for Research and Innovation","doi-asserted-by":"publisher","award":["N 643578"],"award-info":[{"award-number":["N 643578"]}],"id":[{"id":"10.13039\/501100007601","id-type":"DOI","asserted-by":"publisher"}]},{"name":"MZ CR AZV","award":["16\u201331932A"],"award-info":[{"award-number":["16\u201331932A"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2018,9,1]]},"DOI":"10.1093\/hmg\/ddy213","type":"journal-article","created":{"date-parts":[[2018,6,1]],"date-time":"2018-06-01T15:11:42Z","timestamp":1527865902000},"page":"3029-3045","source":"Crossref","is-referenced-by-count":57,"title":["Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation"],"prefix":"10.1093","volume":"27","author":[{"given":"Angel","family":"Ashikov","sequence":"first","affiliation":[{"name":"Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands"},{"name":"Translational Metabolic Laboratory, Department Laboratory Medicine, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nurulamin","family":"Abu Bakar","sequence":"additional","affiliation":[{"name":"Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands"},{"name":"Translational Metabolic Laboratory, Department Laboratory Medicine, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiao-Yan","family":"Wen","sequence":"additional","affiliation":[{"name":"Zebrafish Centre for Advanced Drug Discovery & Keenan Research Centre for Biomedical Science, Li Ka Shing Knowledge Institute, St Michael\u2019s Hospital, Toronto, ON, Canada"},{"name":"Department of Medicine, Physiology & Institute of Medical Science, Faculty of Medicine, University of Toronto, ON, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Niemeijer","sequence":"additional","affiliation":[{"name":"Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Glentino","family":"Rodrigues Pinto Osorio","sequence":"additional","affiliation":[{"name":"Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Koroboshka","family":"Brand-Arzamendi","sequence":"additional","affiliation":[{"name":"Zebrafish Centre for Advanced Drug Discovery & Keenan Research Centre for Biomedical Science, Li Ka Shing Knowledge Institute, St Michael\u2019s Hospital, Toronto, ON, Canada"},{"name":"Department of Medicine, Physiology & Institute of Medical Science, Faculty of Medicine, University of Toronto, ON, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linda","family":"Hasadsri","sequence":"additional","affiliation":[{"name":"Division of Laboratory Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hana","family":"Hansikova","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kimiyo","family":"Raymond","sequence":"additional","affiliation":[{"name":"Division of Laboratory Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Doroth\u00e9e","family":"Vicogne","sequence":"additional","affiliation":[{"name":"CNRS-UMR 8576, Structural and Functional Glycobiology Unit, FRABIO, University of Lille, 59655 Villeneuve d\u2019Ascq, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nina","family":"Ondruskova","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marleen E H","family":"Simon","sequence":"additional","affiliation":[{"name":"Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rolph","family":"Pfundt","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sharita","family":"Timal","sequence":"additional","affiliation":[{"name":"Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands"},{"name":"Translational Metabolic Laboratory, Department Laboratory Medicine, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roel","family":"Beumers","sequence":"additional","affiliation":[{"name":"Translational Metabolic Laboratory, Department Laboratory Medicine, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christophe","family":"Biot","sequence":"additional","affiliation":[{"name":"CNRS-UMR 8576, Structural and Functional Glycobiology Unit, FRABIO, University of Lille, 59655 Villeneuve d\u2019Ascq, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roel","family":"Smeets","sequence":"additional","affiliation":[{"name":"Translational Metabolic Laboratory, Department Laboratory Medicine, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marjan","family":"Kersten","sequence":"additional","affiliation":[{"name":"Translational Metabolic Laboratory, Department Laboratory Medicine, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karin","family":"Huijben","sequence":"additional","affiliation":[{"name":"Translational Metabolic Laboratory, Department Laboratory Medicine, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"CDG group","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter T A","family":"Linders","sequence":"additional","affiliation":[{"name":"Department of Tumor Immunology, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Geert","family":"van den Bogaart","sequence":"additional","affiliation":[{"name":"Department of Tumor Immunology, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sacha A F T","family":"van Hijum","sequence":"additional","affiliation":[{"name":"Center for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands"},{"name":"NIZO, 6710 BA Ede, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard","family":"Rodenburg","sequence":"additional","affiliation":[{"name":"Radboud Center for Mitochondrial Disorders, Translational Metabolic Laboratory, Department of Pediatrics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lambertus P","family":"van den Heuvel","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francjan","family":"van Spronsen","sequence":"additional","affiliation":[{"name":"Division of Metabolic Diseases, Beatrix Children\u2019s Hospital, University Medical Center Groningen, PO BOX 30.001, 9700 RB Groningen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomas","family":"Honzik","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francois","family":"Foulquier","sequence":"additional","affiliation":[{"name":"CNRS-UMR 8576, Structural and Functional Glycobiology Unit, FRABIO, University of Lille, 59655 Villeneuve d\u2019Ascq, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monique","family":"van Scherpenzeel","sequence":"additional","affiliation":[{"name":"Translational Metabolic Laboratory, Department Laboratory Medicine, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dirk J","family":"Lefeber","sequence":"additional","affiliation":[{"name":"Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands"},{"name":"Translational Metabolic Laboratory, Department Laboratory Medicine, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"CDG group","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wamelink","family":"Mirjam","sequence":"additional","affiliation":[{"name":"Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brunner","family":"Han","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mundy","family":"Helen","sequence":"additional","affiliation":[{"name":"Centre for Inherited Metabolic Disease, Evelina Children's Hospital, Guys and St Thomas NHS Foundation Trust, London SE1 7EH, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michelakakis","family":"Helen","sequence":"additional","affiliation":[{"name":"Department of Enzymology and Cellular Function, Institute of Child Health, Athens, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"van Hasselt","family":"Peter","sequence":"additional","affiliation":[{"name":"Department of Metabolic Diseases, University Medical Center Utrecht, Utrecht, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"van de Kamp","family":"Jiddeke","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martinelli","family":"Diego","sequence":"additional","affiliation":[{"name":"Genetics and Rare Diseases Research Division, Bambino Ges\u00f9 Children's Research Hospital, Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Morkrid","family":"Lars","sequence":"additional","affiliation":[{"name":"Department of Medical Biochemistry, Oslo University Hospital, and Faculty of Medicine, Institute of Clinical Medicine, University of Oslo, Oslo, Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brocke Holmefjord","family":"Katja","sequence":"additional","affiliation":[{"name":"Department of Child Neurology, University Hospital Stavanger, Stavanger, Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hertecant","family":"Jozef","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Tawam Hospital, Al-Ain, UAE"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alfadhel","family":"Majid","sequence":"additional","affiliation":[{"name":"King Abdullah International Medical Research Centre, King Saud bin Abdul Aziz University for Health Sciences, Division of Genetics, Department of Pediatrics, King Abdullah Specialized Children Hospital, King Abdul Aziz Medical City, Ministry of National Guard-Health Affairs (NGHA), Riyadh, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carpenter","family":"Kevin","sequence":"additional","affiliation":[{"name":"NSW Biochemical Genetics Service, The Children's Hospital at Westmead, Disciplines of Genetic Medicine & Child and Adolescent Health, The University of Sydney, NSW 2145, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"te Water Naude","family":"Johann","sequence":"additional","affiliation":[{"name":"Department of Child Health, University Hospital of Wales, Cardiff, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2018,6,5]]},"reference":[{"key":"key\n\t\t\t\t20180817083351_ddy213-B1","doi-asserted-by":"crossref","first-page":"1921","DOI":"10.1056\/NEJMoa1206524","article-title":"Diagnostic exome sequencing in persons with severe intellectual disability","volume":"367","author":"de Ligt","year":"2012","journal-title":"N. Engl. J. Med"},{"key":"key\n\t\t\t\t20180817083351_ddy213-B2","doi-asserted-by":"crossref","first-page":"344","DOI":"10.1038\/nature13394","article-title":"Genome sequencing identifies major causes of severe intellectual disability","volume":"511","author":"Gilissen","year":"2014","journal-title":"Nature"},{"key":"key\n\t\t\t\t20180817083351_ddy213-B3","doi-asserted-by":"crossref","first-page":"1055","DOI":"10.1038\/gim.2017.1","article-title":"A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology","volume":"19","author":"Vissers","year":"2017","journal-title":"Genet. Med"},{"key":"key\n\t\t\t\t20180817083351_ddy213-B4","doi-asserted-by":"crossref","first-page":"1090","DOI":"10.1038\/gim.2016.1","article-title":"A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders","volume":"18","author":"Stark","year":"2016","journal-title":"Genet. Med"},{"key":"key\n\t\t\t\t20180817083351_ddy213-B5","doi-asserted-by":"crossref","first-page":"1363","DOI":"10.1038\/ng.3410","article-title":"Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4, 125 families","volume":"47","author":"Akawi","year":"2015","journal-title":"Nat. Genet"},{"key":"key\n\t\t\t\t20180817083351_ddy213-B6","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1126\/scitranslmed.aal5209","article-title":"Improving genetic diagnosis in Mendelian disease with transcriptome sequencing","volume":"9","author":"Cummings","year":"2017","journal-title":"Sci. Transl. Med"},{"key":"key\n\t\t\t\t20180817083351_ddy213-B7","doi-asserted-by":"crossref","first-page":"2246","DOI":"10.1056\/NEJMoa1515792","article-title":"Exome sequencing and the management of neurometabolic disorders","volume":"374","author":"Tarailo-Graovac","year":"2016","journal-title":"N. Engl. J. Med"},{"key":"key\n\t\t\t\t20180817083351_ddy213-B8","doi-asserted-by":"crossref","first-page":"448","DOI":"10.1038\/nrm3383","article-title":"Vertebrate protein glycosylation: diversity, synthesis and function","volume":"13","author":"Moremen","year":"2012","journal-title":"Nat. Rev. Mol. Cell Biol"},{"key":"key\n\t\t\t\t20180817083351_ddy213-B9","doi-asserted-by":"crossref","first-page":"927","DOI":"10.1056\/NEJMra0910494","article-title":"Mendelian disorders of membrane trafficking","volume":"365","author":"De Matteis","year":"2011","journal-title":"N. Engl. J. Med"},{"key":"key\n\t\t\t\t20180817083351_ddy213-B10","doi-asserted-by":"crossref","first-page":"180","DOI":"10.1373\/clinchem.2006.073940","article-title":"Transferrin and apolipoprotein C-III isofocusing are complementary in the diagnosis of N- and O-glycan biosynthesis defects","volume":"53","author":"Wopereis","year":"2006","journal-title":"Clin. Chem"},{"key":"key\n\t\t\t\t20180817083351_ddy213-B11","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"},{"key":"key\n\t\t\t\t20180817083351_ddy213-B12","doi-asserted-by":"crossref","first-page":"1030","DOI":"10.1093\/brain\/awu019","article-title":"Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency","volume":"137","author":"Van Scherpenzeel","year":"2014","journal-title":"Brain J. Neurol"},{"key":"key\n\t\t\t\t20180817083351_ddy213-B13","doi-asserted-by":"crossref","first-page":"1615","DOI":"10.1056\/NEJMoa1302846","article-title":"Glycosylation, hypogammaglobulinemia, and resistance to viral infections","volume":"370","author":"Sadat","year":"2014","journal-title":"N. Engl. J. Med"},{"key":"key\n\t\t\t\t20180817083351_ddy213-B14","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1016\/j.chroma.2012.12.079","article-title":"Isomer-specific chromatographic profiling yields highly sensitive and specific potential N-glycan biomarkers for epithelial ovarian cancer","volume":"1279","author":"Hua","year":"2013","journal-title":"J. Chromatogr. A"},{"key":"key\n\t\t\t\t20180817083351_ddy213-B15","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. J. Lab. Clin. Med"},{"key":"key\n\t\t\t\t20180817083351_ddy213-B16","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"},{"key":"key\n\t\t\t\t20180817083351_ddy213-B17","doi-asserted-by":"crossref","first-page":"632","DOI":"10.1016\/j.ajhg.2013.03.012","article-title":"Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation","volume":"92","author":"Ng","year":"2013","journal-title":"Am. J. Hum. Genet"},{"key":"key\n\t\t\t\t20180817083351_ddy213-B18","doi-asserted-by":"crossref","first-page":"733","DOI":"10.1136\/jmedgenet-2013-101753","article-title":"Mutations in SLC35A3 cause autism spectrum disorder, epilepsy and arthrogryposis","volume":"50","author":"Edvardson","year":"2013","journal-title":"J. Med. Genet"},{"key":"key\n\t\t\t\t20180817083351_ddy213-B19","doi-asserted-by":"crossref","first-page":"2758","DOI":"10.1002\/ajmg.a.38374","article-title":"A human case of SLC35A3-related skeletal dysplasia","volume":"173","author":"Edmondson","year":"2017","journal-title":"Am. J. Med. Genet. A"},{"key":"key\n\t\t\t\t20180817083351_ddy213-B20","doi-asserted-by":"crossref","first-page":"1119","DOI":"10.1002\/ajmg.a.38112","article-title":"Recessive mutations in SLC35A3 cause early onset epileptic encephalopathy with skeletal defects","volume":"173","author":"Marini","year":"2017","journal-title":"Am. J. Med. Genet. A"},{"key":"key\n\t\t\t\t20180817083351_ddy213-B21","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1016\/j.ajhg.2015.12.010","article-title":"CCDC115 deficiency causes a disorder of Golgi homeostasis with abnormal protein glycosylation","volume":"98","author":"Jansen","year":"2016","journal-title":"Am. J. Hum. Genet"},{"key":"key\n\t\t\t\t20180817083351_ddy213-B22","doi-asserted-by":"crossref","first-page":"2.","DOI":"10.1186\/s12861-016-0102-4","article-title":"Revisiting in vivo staining with alizarin red S\u2013a valuable approach to analyse zebrafish skeletal mineralization during development and regeneration","volume":"16","author":"Bensimon-Brito","year":"2016","journal-title":"BMC Dev. Biol"},{"key":"key\n\t\t\t\t20180817083351_ddy213-B23","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1016\/j.ejcb.2007.06.001","article-title":"Molecular and phylogenetic characterization of a novel putative membrane transporter (SLC10A7), conserved in vertebrates and bacteria","volume":"86","author":"Godoy","year":"2007","journal-title":"Eur. J. Cell Biol"},{"key":"key\n\t\t\t\t20180817083351_ddy213-B24","doi-asserted-by":"crossref","first-page":"1007","DOI":"10.1042\/BJ20111234","article-title":"Homo- and hetero-dimeric architecture of the human liver Na(+)-dependent taurocholate co-transporting protein","volume":"441","author":"Bijsmans","year":"2012","journal-title":"Biochem. J"},{"key":"key\n\t\t\t\t20180817083351_ddy213-B25","doi-asserted-by":"crossref","first-page":"497","DOI":"10.1042\/BJ20112166","article-title":"The Candida albicans plasma membrane protein Rch1p, a member of the vertebrate SLC10 carrier family, is a novel regulator of cytosolic Ca2+ homoeostasis","volume":"444","author":"Jiang","year":"2012","journal-title":"Biochem. J"},{"key":"key\n\t\t\t\t20180817083351_ddy213-B26","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1016\/B978-0-12-417164-0.00010-0","article-title":"Assessing ER and Golgi N-glycosylation process using metabolic labeling in mammalian cultured cells","volume":"118","author":"Peanne","year":"2013","journal-title":"Methods in Cell Biology"},{"key":"key\n\t\t\t\t20180817083351_ddy213-B27","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"},{"key":"key\n\t\t\t\t20180817083351_ddy213-B28","doi-asserted-by":"crossref","first-page":"699","DOI":"10.1016\/j.molcel.2015.04.021","article-title":"Defining the metabolome: size, flux, and regulation","volume":"58","author":"Zamboni","year":"2015","journal-title":"Mol. Cell"},{"key":"key\n\t\t\t\t20180817083351_ddy213-B29","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1016\/j.cmet.2015.11.012","article-title":"A next generation multiscale view of inborn errors of metabolism","volume":"23","author":"Argmann","year":"2016","journal-title":"Cell Metab"},{"key":"key\n\t\t\t\t20180817083351_ddy213-B30","doi-asserted-by":"crossref","first-page":"e1001256.","DOI":"10.1371\/journal.pgen.1001256","article-title":"Genomics meets glycomics-the first GWAS study of human N-Glycome identifies HNF1alpha as a master regulator of plasma protein fucosylation","volume":"6","author":"Lauc","year":"2010","journal-title":"PLoS Genet"},{"key":"key\n\t\t\t\t20180817083351_ddy213-B31","doi-asserted-by":"crossref","first-page":"252","DOI":"10.1016\/j.mam.2012.07.004","article-title":"The solute carrier family 10 (SLC10): beyond bile acid transport","volume":"34","author":"Claro da Silva","year":"2013","journal-title":"Mol. Aspects Med"},{"key":"key\n\t\t\t\t20180817083351_ddy213-B32","doi-asserted-by":"crossref","first-page":"1085.","DOI":"10.1038\/s41598-017-01121-8","article-title":"SLC10A4 regulates IgE-mediated mast cell degranulation in vitro and mast cell-mediated reactions in vivo","volume":"7","author":"Pettersson","year":"2017","journal-title":"Sci. Rep"},{"key":"key\n\t\t\t\t20180817083351_ddy213-B33","doi-asserted-by":"crossref","first-page":"526","DOI":"10.1016\/j.biopsych.2014.07.017","article-title":"SLC10A4 is a vesicular amine-associated transporter modulating dopamine homeostasis","volume":"77","author":"Larhammar","year":"2015","journal-title":"Biol. Psychiatry"},{"key":"key\n\t\t\t\t20180817083351_ddy213-B34","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1016\/j.ejcb.2016.01.001","article-title":"The plasma membrane protein Rch1 is a negative regulator of cytosolic calcium homeostasis and positively regulated by the calcium\/calcineurin signaling pathway in budding yeast","volume":"95","author":"Zhao","year":"2016","journal-title":"Eur. J. Cell Biol"},{"key":"key\n\t\t\t\t20180817083351_ddy213-B35","doi-asserted-by":"crossref","first-page":"14034.","DOI":"10.1038\/boneres.2014.34","article-title":"High-throughput screening of mouse gene knockouts identifies established and novel skeletal phenotypes","volume":"2","author":"Brommage","year":"2014","journal-title":"Bone Res"},{"key":"key\n\t\t\t\t20180817083351_ddy213-B36","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1007\/s10545-015-9903-z","article-title":"Biosynthesis of glycosaminoglycans: associated disorders and biochemical tests","volume":"39","author":"Sasarman","year":"2016","journal-title":"J. Inherit. Metab. Dis"},{"key":"key\n\t\t\t\t20180817083351_ddy213-B37","doi-asserted-by":"crossref","first-page":"435.","DOI":"10.3389\/fphys.2017.00435","article-title":"Amelogenesis imperfecta; genes, proteins, and pathways","volume":"8","author":"Smith","year":"2017","journal-title":"Front. Physiol"},{"key":"key\n\t\t\t\t20180817083351_ddy213-B38","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1177\/0022034514556708","article-title":"The molecular basis of hereditary enamel defects in humans","volume":"94","author":"Wright","year":"2015","journal-title":"J. Dent. Res"},{"key":"key\n\t\t\t\t20180817083351_ddy213-B39","doi-asserted-by":"crossref","first-page":"2151","DOI":"10.1083\/jcb.201702099","article-title":"BAIAP3, a C2 domain-containing Munc13 protein, controls the fate of dense-core vesicles in neuroendocrine cells","volume":"216","author":"Zhang","year":"2017","journal-title":"J. Cell Biol"},{"key":"key\n\t\t\t\t20180817083351_ddy213-B40","doi-asserted-by":"crossref","first-page":"953","DOI":"10.1016\/0003-9969(92)90067-I","article-title":"Localization of glycosylated matrix proteins in secretory porcine enamel and their possible functional roles in enamel mineralization","volume":"37","author":"Akita","year":"1992","journal-title":"Arch. Oral Biol"},{"key":"key\n\t\t\t\t20180817083351_ddy213-B41","doi-asserted-by":"crossref","first-page":"792","DOI":"10.1016\/j.ajhg.2013.03.023","article-title":"Mutations in ANTXR1 cause GAPO syndrome","volume":"92","author":"Str\u00e1neck\u00fd","year":"2013","journal-title":"Am. J. Hum. Genet"},{"key":"key\n\t\t\t\t20180817083351_ddy213-B42","doi-asserted-by":"crossref","first-page":"1109","DOI":"10.1038\/ng.712","article-title":"A de novo paradigm for mental retardation","volume":"42","author":"Vissers","year":"2010","journal-title":"Nat. Genet"},{"key":"key\n\t\t\t\t20180817083351_ddy213-B43","doi-asserted-by":"crossref","first-page":"4952","DOI":"10.1021\/pr100202a","article-title":"Human serum processing and analysis methods for rapid and reproducible N-glycan mass profiling","volume":"9","author":"Kronewitter","year":"2010","journal-title":"J. Proteome Res"},{"key":"key\n\t\t\t\t20180817083351_ddy213-B44","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1093\/bioinformatics\/18.1.207","article-title":"Genesis: cluster analysis of microarray data","volume":"18","author":"Sturn","year":"2002","journal-title":"Bioinformatics"},{"key":"key\n\t\t\t\t20180817083351_ddy213-B45","volume-title":"Canoco Reference Manual and User's Guide: Software for Ordination, Version 5.0","author":"Braak","year":"2012"},{"key":"key\n\t\t\t\t20180817083351_ddy213-B46","doi-asserted-by":"crossref","first-page":"202","DOI":"10.1038\/ejhg.2014.80","article-title":"SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumors","volume":"23","author":"Renkema","year":"2015","journal-title":"Eur. J. Hum. Genet"},{"key":"key\n\t\t\t\t20180817083351_ddy213-B47","doi-asserted-by":"crossref","first-page":"8051","DOI":"10.1002\/anie.201101817","article-title":"Increasing the efficacy of bioorthogonal click reactions for bioconjugation: a comparative study","volume":"50","author":"Besanceney-Webler","year":"2011","journal-title":"Angewandte Chem"}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/hmg\/article-pdf\/27\/17\/3029\/25505663\/ddy213.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,10,18]],"date-time":"2019-10-18T20:38:33Z","timestamp":1571431113000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/hmg\/article\/27\/17\/3029\/5033379"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,6,5]]},"references-count":47,"journal-issue":{"issue":"17","published-online":{"date-parts":[[2018,6,5]]},"published-print":{"date-parts":[[2018,9,1]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/ddy213","relation":{},"ISSN":["0964-6906","1460-2083"],"issn-type":[{"value":"0964-6906","type":"print"},{"value":"1460-2083","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2018,9]]},"published":{"date-parts":[[2018,6,5]]}}}