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These phenotypically diverse disorders typically present as clinical syndromes #Affecting multiple systems including the central nervous system, muscle function, transport, regulation, immunity, endocrine system, and coagulation. An increasing number of disorders have been discovered using novel techniques that combine glycobiology with next\u2010generation sequencing or use tandem mass spectrometry in combination with molecular gene\u2010hunting techniques. The number of \u201cclassic\u201d congenital disorders of glycosylation (CDGs) due to N\u2010linked glycosylation defects is still rising. Eight novel CDGs affecting N\u2010linked glycans were discovered in 2013 alone. Newly discovered genes teach us about the significance of glycosylation in cell\u2013cell interaction, signaling, organ development, cell survival, and mosaicism, in addition to the consequences of abnormal glycosylation for muscle function. We have learned how important glycosylation is in posttranslational modification and how glycosylation defects can imitate recognizable, previously described phenotypes. In many CDG subtypes, patients unexpectedly presented with long\u2010term survival, whereas some others presented with nonsyndromic intellectual disability. In this review, recently discovered N\u2010linked CDGs are described, with a focus on clinical presentations and therapeutic ideas. A diagnostic approach in unsolved N\u2010linked CDG cases with abnormal transferrin screening results is also suggested.<\/jats:p>","DOI":"10.1007\/s10545-014-9720-9","type":"journal-article","created":{"date-parts":[[2014,5,14]],"date-time":"2014-05-14T14:25:28Z","timestamp":1400077528000},"page":"609-617","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":115,"title":["Congenital disorders of glycosylation: new defects and still counting"],"prefix":"10.1002","volume":"37","author":[{"given":"Kyle","family":"Scott","sequence":"first","affiliation":[{"name":"Hayward Genetics Center Tulane University School of Medicine 1430 Tulane Ave New Orleans LA 70112 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Therese","family":"Gadomski","sequence":"additional","affiliation":[{"name":"Hayward Genetics Center Tulane University School of Medicine 1430 Tulane Ave New Orleans LA 70112 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tamas","family":"Kozicz","sequence":"additional","affiliation":[{"name":"Hayward Genetics Center Tulane University School of Medicine 1430 Tulane Ave New Orleans LA 70112 USA"},{"name":"Department of Anatomy Radboud University Medical Center Nijmegen Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva","family":"Morava","sequence":"additional","affiliation":[{"name":"Hayward Genetics Center Tulane University School of Medicine 1430 Tulane Ave New Orleans LA 70112 USA"},{"name":"Department of Pediatrics Tulane University School of Medicine New Orleans LA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,5,15]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.23632"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.05.022"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awt010"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbadis.2008.11.012"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2009.01349.x"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.05.002"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.R112.429274"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35702"},{"key":"e_1_2_8_10_1","unstructured":"GardeitchikT MohamedM FischerB LammensM LefeberD LaceB ParkerM KimKJ LimBC H\u00e4berleJ GaravelliL JagadeeshS KariminejadA GuerraD Le\u00e3oM Keski\u2010FilppulaR BrunnerH NijtmansL van denHeuvelB WeversR KornakU MoravaE(2013)Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa.Eur J Hum Genet PubMed PMID: 23963297."},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2010.153635"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp148"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1749-6632.2010.05840.x"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbadis.2009.08.005"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-009-1297-3"},{"key":"e_1_2_8_16_1","doi-asserted-by":"crossref","unstructured":"JanssenMCH deKleineRH van denBergAP HeijdraY vanScherpenzeelM LefeberDJ MoravaE(2014)Successful liver transplantation and long\u2010term follow\u2010up in a patient with MPI\u2010CDG.Pediatrics in press","DOI":"10.1542\/peds.2013-2732"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajpath.2011.06.012"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10741-012-9302-6"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22446"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.03.011"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.06.006"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-011-9370-0"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2013.02.006"},{"key":"e_1_2_8_24_1","doi-asserted-by":"crossref","unstructured":"LosfeldME NgBG KircherM BuckinghamKJ TurnerEH EroshkinA SmithJD ShendureJ NickersonDA BamshadMJ University of Washington Center for Mendelian Genomics Freeze HH (2013) A new congenital disorder of glycosylation caused by a mutation in SSR4 the signal sequence receptor 4 protein of the TRAP complex.Hum Mol Genet. 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