{"id":"https://openalex.org/W2179816396","doi":"https://doi.org/10.11648/j.ajp.20150102.11","title":"Congenital Disorders of Glycosylation: A Review","display_name":"Congenital Disorders of Glycosylation: A Review","publication_year":2015,"publication_date":"2015-10-14","ids":{"openalex":"https://openalex.org/W2179816396","doi":"https://doi.org/10.11648/j.ajp.20150102.11","mag":"2179816396"},"language":"en","primary_location":{"id":"mag:2179816396","doi":"https://doi.org/10.11648/j.ajp.20150102.11","is_oa":false,"landing_page_url":"http://article.ajpediatrics.org/pdf/10.11648.j.ajp.20150102.11.pdf","pdf_url":null,"source":{"id":"https://openalex.org/S152361726","display_name":"Asian Journal of Psychiatry","issn_l":"1876-2018","issn":["1876-2018","1876-2026"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":"Asian Journal of Psychiatry","raw_type":null},"volume":null,"type":"review","indexed_in":[],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5026717806","display_name":"Ziad Albahri","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"Ziad Albahri","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":["https://openalex.org/A5026717806"],"corresponding_institution_ids":[],"apc_list":{"value":3820,"currency":"USD","value_usd":3820},"apc_paid":null,"fwci":0.0323,"has_fulltext":false,"cited_by_count":5,"citation_normalized_percentile":{"value":0.0339145,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":96},"biblio":{"volume":"1","issue":"2","first_page":"6","last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10602","display_name":"Glycosylation and Glycoproteins Research","score":0.46779999136924744,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T10602","display_name":"Glycosylation and Glycoproteins Research","score":0.46779999136924744,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.27469998598098755,"subfield":{"id":"https://openalex.org/subfields/1308","display_name":"Clinical Biochemistry"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10945","display_name":"Lysosomal Storage Disorders Research","score":0.12219999730587006,"subfield":{"id":"https://openalex.org/subfields/2737","display_name":"Physiology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/congenital-disorders-of-glycosylation","display_name":"congenital disorders of glycosylation","score":1.0},{"id":"https://openalex.org/keywords/inborn-errors-of-metabolism","display_name":"inborn errors of metabolism","score":0.9570000171661377},{"id":"https://openalex.org/keywords/n-glycans","display_name":"N-glycans","score":0.8169999718666077},{"id":"https://openalex.org/keywords/clinical-phenotype","display_name":"clinical phenotype","score":0.8029999732971191}],"concepts":[{"id":"https://openalex.org/C2777313579","wikidata":"https://www.wikidata.org/wiki/Q898365","display_name":"Glycosylation","level":2,"score":0.8124964237213135},{"id":"https://openalex.org/C50476208","wikidata":"https://www.wikidata.org/wiki/Q898861","display_name":"Isoelectric focusing","level":3,"score":0.6503301858901978},{"id":"https://openalex.org/C2779646400","wikidata":"https://www.wikidata.org/wiki/Q1758393","display_name":"Inborn error of metabolism","level":2,"score":0.5752401351928711},{"id":"https://openalex.org/C206212055","wikidata":"https://www.wikidata.org/wiki/Q2553138","display_name":"Glycan","level":3,"score":0.48736411333084106},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.43677616119384766},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.43665629625320435},{"id":"https://openalex.org/C75280812","wikidata":"https://www.wikidata.org/wiki/Q190382","display_name":"Matrix-assisted laser desorption/ionization","level":4,"score":0.43026962876319885},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.3756968379020691},{"id":"https://openalex.org/C185592680","wikidata":"https://www.wikidata.org/wiki/Q2329","display_name":"Chemistry","level":0,"score":0.3700564205646515},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.35665780305862427},{"id":"https://openalex.org/C181199279","wikidata":"https://www.wikidata.org/wiki/Q8047","display_name":"Enzyme","level":2,"score":0.3091186285018921},{"id":"https://openalex.org/C108625454","wikidata":"https://www.wikidata.org/wiki/Q187126","display_name":"Glycoprotein","level":2,"score":0.2448677122592926},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.10436022281646729},{"id":"https://openalex.org/C162711632","wikidata":"https://www.wikidata.org/wiki/Q905514","display_name":"Desorption","level":3,"score":0.0},{"id":"https://openalex.org/C178790620","wikidata":"https://www.wikidata.org/wiki/Q11351","display_name":"Organic chemistry","level":1,"score":0.0},{"id":"https://openalex.org/C150394285","wikidata":"https://www.wikidata.org/wiki/Q180254","display_name":"Adsorption","level":2,"score":0.0}],"mesh":[],"locations_count":1,"locations":[{"id":"mag:2179816396","doi":"https://doi.org/10.11648/j.ajp.20150102.11","is_oa":false,"landing_page_url":"http://article.ajpediatrics.org/pdf/10.11648.j.ajp.20150102.11.pdf","pdf_url":null,"source":{"id":"https://openalex.org/S152361726","display_name":"Asian Journal of Psychiatry","issn_l":"1876-2018","issn":["1876-2018","1876-2026"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":"Asian Journal of Psychiatry","raw_type":null}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.9763000011444092,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":107,"referenced_works":["https://openalex.org/W10838131","https://openalex.org/W160471267","https://openalex.org/W164070572","https://openalex.org/W343734348","https://openalex.org/W1483635560","https://openalex.org/W1783990532","https://openalex.org/W1794733838","https://openalex.org/W1912271449","https://openalex.org/W1965840983","https://openalex.org/W1966296397","https://openalex.org/W1970122244","https://openalex.org/W1971247150","https://openalex.org/W1973088844","https://openalex.org/W1975284886","https://openalex.org/W1977576363","https://openalex.org/W1979523610","https://openalex.org/W1984039347","https://openalex.org/W1986186346","https://openalex.org/W1988536370","https://openalex.org/W1989611470","https://openalex.org/W1991131535","https://openalex.org/W1992884146","https://openalex.org/W1998795659","https://openalex.org/W2002679805","https://openalex.org/W2005455329","https://openalex.org/W2006781071","https://openalex.org/W2008288005","https://openalex.org/W2008913125","https://openalex.org/W2011289490","https://openalex.org/W2012675371","https://openalex.org/W2015514724","https://openalex.org/W2016602175","https://openalex.org/W2017024078","https://openalex.org/W2019930456","https://openalex.org/W2021458684","https://openalex.org/W2024930504","https://openalex.org/W2026368033","https://openalex.org/W2027251721","https://openalex.org/W2028312493","https://openalex.org/W2028690513","https://openalex.org/W2031752481","https://openalex.org/W2033401038","https://openalex.org/W2033917711","https://openalex.org/W2033923444","https://openalex.org/W2034247812","https://openalex.org/W2034791373","https://openalex.org/W2035330759","https://openalex.org/W2036557000","https://openalex.org/W2036656454","https://openalex.org/W2044920932","https://openalex.org/W2047196852","https://openalex.org/W2052630008","https://openalex.org/W2053510792","https://openalex.org/W2053538638","https://openalex.org/W2054530726","https://openalex.org/W2057195928","https://openalex.org/W2059643512","https://openalex.org/W2060843535","https://openalex.org/W2063791077","https://openalex.org/W2064514167","https://openalex.org/W2064550080","https://openalex.org/W2065940616","https://openalex.org/W2072257556","https://openalex.org/W2074187800","https://openalex.org/W2075520416","https://openalex.org/W2076857783","https://openalex.org/W2077451618","https://openalex.org/W2077632475","https://openalex.org/W2078263092","https://openalex.org/W2082253768","https://openalex.org/W2084039108","https://openalex.org/W2084183956","https://openalex.org/W2086241911","https://openalex.org/W2088441311","https://openalex.org/W2095142584","https://openalex.org/W2101455704","https://openalex.org/W2103191440","https://openalex.org/W2104191615","https://openalex.org/W2105908054","https://openalex.org/W2108243420","https://openalex.org/W2111550199","https://openalex.org/W2114276666","https://openalex.org/W2115924487","https://openalex.org/W2120858919","https://openalex.org/W2121702910","https://openalex.org/W2122509446","https://openalex.org/W2125325331","https://openalex.org/W2125815682","https://openalex.org/W2126181351","https://openalex.org/W2126715351","https://openalex.org/W2127808311","https://openalex.org/W2129350186","https://openalex.org/W2129364694","https://openalex.org/W2130779718","https://openalex.org/W2139656645","https://openalex.org/W2151999970","https://openalex.org/W2157783878","https://openalex.org/W2158891862","https://openalex.org/W2160360025","https://openalex.org/W2165015122","https://openalex.org/W2165285492","https://openalex.org/W2165559839","https://openalex.org/W2166240144","https://openalex.org/W2166701292","https://openalex.org/W2281618552","https://openalex.org/W2314905147","https://openalex.org/W4232483670"],"related_works":["https://openalex.org/W2053538638","https://openalex.org/W2105908054","https://openalex.org/W2129350186","https://openalex.org/W4411854414","https://openalex.org/W3097224754","https://openalex.org/W1190729038","https://openalex.org/W2009944500","https://openalex.org/W3196720105","https://openalex.org/W2252106150","https://openalex.org/W2899710525"],"abstract_inverted_index":{"Congenital":[0],"disorders":[1],"of":[2,10,13,18,26,35,58,61],"glycosylation":[3,17],"(CDG)":[4],"are":[5,51,90],"a":[6],"rapidly":[7],"growing":[8],"group":[9],"inborn":[11,24],"erros":[12],"metabolism":[14,27],"with":[15],"abnormal":[16],"proteins":[19],"and":[20,86,99],"lipids.":[21],"Nearly":[22],"70":[23],"errors":[25],"have":[28],"been":[29],"described":[30],"due":[31],"to":[32],"congenital":[33],"defects":[34],"glycosylation,":[36],"present":[37],"as":[38],"clinical":[39,105],"syndromes,":[40],"affecting":[41],"multiple":[42],"systems,":[43],"impacting":[44],"nearly":[45],"every":[46],"organ.":[47],"No":[48],"specific":[49],"tests":[50],"available":[52],"yet":[53],"for":[54,96],"screening":[55,98],"all":[56],"types":[57],"CDG,":[59],"analysis":[60,89],"serum":[62,79],"Tf":[63],"by":[64],"isoelectric":[65],"focusing":[66],"(IEF)":[67],"or":[68,78],"high-performance":[69],"liquid":[70],"chromatography":[71],"(HPLC)":[72],"/":[73],"(matrix-assisted":[74],"laser":[75],"desorption/ionization":[76],"MALDI)":[77],"N-glycans":[80],"(by":[81],"MS),":[82],"enzyme":[83],"activity":[84],"assays":[85],"DNA":[87],"sequence":[88],"the":[91,104],"most":[92],"frequently":[93],"used":[94],"methods":[95],"CDG":[97,108],"diagnosis.":[100],"We":[101],"here":[102],"review":[103],"phenotypes":[106],"in":[107],"defects.":[109]},"counts_by_year":[{"year":2021,"cited_by_count":2},{"year":2019,"cited_by_count":2},{"year":2017,"cited_by_count":1}],"updated_date":"2026-10-12T09:40:04.860316","created_date":"2016-06-24T00:00:00"}
