{"id":"https://openalex.org/W2113155802","doi":"https://doi.org/10.1016/j.ejmhg.2011.02.002","title":"Porphyrins profile by high performance liquid chromatography/electrospray ionization tandem mass spectrometry for the diagnosis of porphyria","display_name":"Porphyrins profile by high performance liquid chromatography/electrospray ionization tandem mass spectrometry for the diagnosis of porphyria","publication_year":2011,"publication_date":"2011-05-01","ids":{"openalex":"https://openalex.org/W2113155802","doi":"https://doi.org/10.1016/j.ejmhg.2011.02.002","mag":"2113155802"},"language":"en","primary_location":{"id":"doi:10.1016/j.ejmhg.2011.02.002","doi":"https://doi.org/10.1016/j.ejmhg.2011.02.002","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.ejmhg.2011.02.002","pdf_url":"https://www.sciencedirect.com/science/article/pii/S1110863011000036/pdf","source":{"id":"https://openalex.org/S3034796422","display_name":"Egyptian Journal of Medical Human Genetics","issn_l":"1110-8630","issn":["1110-8630","2090-2441"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-d","jpps-1","jufo-1","poland-40","russia-white-list-4","vabb-shw"],"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Egyptian Journal of Medical Human Genetics","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref"],"open_access":{"is_oa":true,"oa_status":"diamond","oa_url":"https://www.sciencedirect.com/science/article/pii/S1110863011000036/pdf","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5023178982","display_name":"Ekram Fateen","orcid":"https://orcid.org/0000-0002-0777-0417","observed_orcids":["https://orcid.org/0000-0002-0777-0417"]},"institutions":[{"id":"https://openalex.org/I4210131959","display_name":"National Research Centre","ror":"https://ror.org/02n85j827","country_code":"EG","type":"facility","lineage":["https://openalex.org/I4210131959"]}],"countries":["EG"],"is_corresponding":false,"raw_author_name":"E. Fateen","raw_affiliation_strings":["Biochemical Genetics Department, National Research Centre, Egypt"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Biochemical Genetics Department, National Research Centre, Egypt","institution_ids":["https://openalex.org/I4210131959"]}]},{"author_position":"middle","author":{"id":null,"display_name":"A. Abd-Elfattah","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I145487455","display_name":"Cairo University","ror":"https://ror.org/03q21mh05","country_code":"EG","type":"education","lineage":["https://openalex.org/I145487455"]}],"countries":["EG"],"is_corresponding":false,"raw_author_name":"A. Abd-Elfattah","raw_affiliation_strings":["Biochemistry Department, Faculty of Pharmacy, Cairo University, Egypt"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Biochemistry Department, Faculty of Pharmacy, Cairo University, Egypt","institution_ids":["https://openalex.org/I145487455"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101654200","display_name":"Amr Sobhi Gouda","orcid":"https://orcid.org/0000-0002-8619-6635","observed_orcids":["https://orcid.org/0000-0002-8619-6635"]},"institutions":[{"id":"https://openalex.org/I4210131959","display_name":"National Research Centre","ror":"https://ror.org/02n85j827","country_code":"EG","type":"facility","lineage":["https://openalex.org/I4210131959"]}],"countries":["EG"],"is_corresponding":true,"raw_author_name":"A. Gouda","raw_affiliation_strings":["Biochemical Genetics Department, National Research Centre, Egypt"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Biochemical Genetics Department, National Research Centre, Egypt","institution_ids":["https://openalex.org/I4210131959"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5030019891","display_name":"Lamis Ragab","orcid":"https://orcid.org/0000-0002-0986-5567","observed_orcids":["https://orcid.org/0000-0002-0986-5567"]},"institutions":[{"id":"https://openalex.org/I145487455","display_name":"Cairo University","ror":"https://ror.org/03q21mh05","country_code":"EG","type":"education","lineage":["https://openalex.org/I145487455"]}],"countries":["EG"],"is_corresponding":false,"raw_author_name":"L. Ragab","raw_affiliation_strings":["Pediatric Department, Faculty of Medicine, Cairo University, Egypt"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Pediatric Department, Faculty of Medicine, Cairo University, Egypt","institution_ids":["https://openalex.org/I145487455"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5030621297","display_name":"Walaa Samy Nazim","orcid":"https://orcid.org/0000-0001-6984-1826","observed_orcids":["https://orcid.org/0000-0001-6984-1826"]},"institutions":[{"id":"https://openalex.org/I4210131959","display_name":"National Research Centre","ror":"https://ror.org/02n85j827","country_code":"EG","type":"facility","lineage":["https://openalex.org/I4210131959"]}],"countries":["EG"],"is_corresponding":false,"raw_author_name":"W. Nazim","raw_affiliation_strings":["Biochemical Genetics Department, National Research Centre, Egypt"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Biochemical Genetics Department, National Research Centre, Egypt","institution_ids":["https://openalex.org/I4210131959"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5101654200"],"corresponding_institution_ids":["https://openalex.org/I4210131959"],"apc_list":{"value":0,"currency":"USD","value_usd":0},"apc_paid":null,"fwci":0.2106,"has_fulltext":true,"cited_by_count":14,"citation_normalized_percentile":{"value":0.47499028,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":87,"max":95},"biblio":{"volume":"12","issue":"1","first_page":"49","last_page":"58"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12441","display_name":"Porphyrin Metabolism and Disorders","score":0.9990000128746033,"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/T12441","display_name":"Porphyrin Metabolism and Disorders","score":0.9990000128746033,"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":0.0006000000284984708,"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/T10903","display_name":"Porphyrin and Phthalocyanine Chemistry","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2505","display_name":"Materials Chemistry"},"field":{"id":"https://openalex.org/fields/25","display_name":"Materials Science"},"domain":{"id":"https://openalex.org/domains/3","display_name":"Physical Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/porphyria","display_name":"porphyria","score":0.9829999804496765},{"id":"https://openalex.org/keywords/urinary-porphyrins","display_name":"urinary porphyrins","score":0.9779999852180481},{"id":"https://openalex.org/keywords/porphyria-diagnosis","display_name":"porphyria diagnosis","score":0.7889999747276306},{"id":"https://openalex.org/keywords/porphyria-cutanea-tarda","display_name":"porphyria cutanea tarda","score":0.9259999990463257},{"id":"https://openalex.org/keywords/variegate-porphyria","display_name":"variegate porphyria","score":0.996999979019165},{"id":"https://openalex.org/keywords/heme-biosynthesis","display_name":"heme biosynthesis","score":0.7409999966621399}],"concepts":[{"id":"https://openalex.org/C185592680","wikidata":"https://www.wikidata.org/wiki/Q2329","display_name":"Chemistry","level":0,"score":0.738090991973877},{"id":"https://openalex.org/C40684141","wikidata":"https://www.wikidata.org/wiki/Q902061","display_name":"Electrospray ionization","level":3,"score":0.731683075428009},{"id":"https://openalex.org/C2777940757","wikidata":"https://www.wikidata.org/wiki/Q271759","display_name":"Porphyria","level":2,"score":0.7115749716758728},{"id":"https://openalex.org/C43617362","wikidata":"https://www.wikidata.org/wiki/Q170050","display_name":"Chromatography","level":1,"score":0.6938071250915527},{"id":"https://openalex.org/C31827203","wikidata":"https://www.wikidata.org/wiki/Q874296","display_name":"Tandem mass spectrometry","level":3,"score":0.6829248666763306},{"id":"https://openalex.org/C162356407","wikidata":"https://www.wikidata.org/wiki/Q180809","display_name":"Mass spectrometry","level":2,"score":0.6199432611465454},{"id":"https://openalex.org/C179998833","wikidata":"https://www.wikidata.org/wiki/Q381233","display_name":"High-performance liquid chromatography","level":2,"score":0.5916552543640137},{"id":"https://openalex.org/C194451485","wikidata":"https://www.wikidata.org/wiki/Q1327575","display_name":"Electrospray","level":3,"score":0.4577232301235199},{"id":"https://openalex.org/C64489805","wikidata":"https://www.wikidata.org/wiki/Q873864","display_name":"Liquid chromatography\u2013mass spectrometry","level":3,"score":0.44731080532073975},{"id":"https://openalex.org/C77411442","wikidata":"https://www.wikidata.org/wiki/Q181100","display_name":"Urinary system","level":2,"score":0.4392852485179901},{"id":"https://openalex.org/C2776217839","wikidata":"https://www.wikidata.org/wiki/Q189621","display_name":"Heme","level":3,"score":0.42540428042411804},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.15809565782546997},{"id":"https://openalex.org/C181199279","wikidata":"https://www.wikidata.org/wiki/Q8047","display_name":"Enzyme","level":2,"score":0.12320646643638611},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.12222188711166382},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.1197752058506012}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1016/j.ejmhg.2011.02.002","doi":"https://doi.org/10.1016/j.ejmhg.2011.02.002","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.ejmhg.2011.02.002","pdf_url":"https://www.sciencedirect.com/science/article/pii/S1110863011000036/pdf","source":{"id":"https://openalex.org/S3034796422","display_name":"Egyptian Journal of Medical Human Genetics","issn_l":"1110-8630","issn":["1110-8630","2090-2441"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-d","jpps-1","jufo-1","poland-40","russia-white-list-4","vabb-shw"],"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Egyptian Journal of Medical Human Genetics","raw_type":"journal-article"}],"best_oa_location":{"id":"doi:10.1016/j.ejmhg.2011.02.002","doi":"https://doi.org/10.1016/j.ejmhg.2011.02.002","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.ejmhg.2011.02.002","pdf_url":"https://www.sciencedirect.com/science/article/pii/S1110863011000036/pdf","source":{"id":"https://openalex.org/S3034796422","display_name":"Egyptian Journal of Medical Human Genetics","issn_l":"1110-8630","issn":["1110-8630","2090-2441"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-d","jpps-1","jufo-1","poland-40","russia-white-list-4","vabb-shw"],"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Egyptian Journal of Medical Human Genetics","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.8560000061988831}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[],"funders":[],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2113155802.pdf","grobid_xml":"https://content.openalex.org/works/W2113155802.grobid-xml"},"referenced_works_count":30,"referenced_works":["https://openalex.org/W42704600","https://openalex.org/W178514093","https://openalex.org/W201398651","https://openalex.org/W1992239176","https://openalex.org/W2014673338","https://openalex.org/W2018962407","https://openalex.org/W2049329376","https://openalex.org/W2049702639","https://openalex.org/W2065896521","https://openalex.org/W2078149962","https://openalex.org/W2083829788","https://openalex.org/W2087908493","https://openalex.org/W2091243449","https://openalex.org/W2094166706","https://openalex.org/W2120878567","https://openalex.org/W2137781663","https://openalex.org/W2145613121","https://openalex.org/W2163187129","https://openalex.org/W2168962779","https://openalex.org/W2169230236","https://openalex.org/W2170163746","https://openalex.org/W2172051877","https://openalex.org/W2265957280","https://openalex.org/W2413050960","https://openalex.org/W2577717004","https://openalex.org/W3145894777","https://openalex.org/W4210973172","https://openalex.org/W4249832669","https://openalex.org/W4390558530","https://openalex.org/W7214089624"],"related_works":["https://openalex.org/W2169230236","https://openalex.org/W2158561294","https://openalex.org/W4411931791","https://openalex.org/W886930081","https://openalex.org/W3207625983","https://openalex.org/W2002945022","https://openalex.org/W2063811863","https://openalex.org/W2074142441","https://openalex.org/W1973152876","https://openalex.org/W2091243449"],"abstract_inverted_index":{"Porphyrias":[0],"are":[1,20,160],"a":[2,35,46,125,146,173,190,203],"group":[3],"of":[4,9,40,58,72,89,103,111,117,142,151,166,180],"inherited":[5],"or":[6],"acquired":[7],"disorders":[8],"certain":[10],"enzymes":[11],"in":[12,27,80,186],"the":[13,31,41,70,77,163,193,208,212],"heme":[14],"bio-synthetic":[15],"pathway.":[16],"Most":[17],"porphyria":[18,74,113,118,137,167],"symptoms":[19],"nonspecific":[21],"and":[22,49,56,68,86,114,156],"occur":[23],"intermittently;":[24],"resulting":[25],"frequently":[26],"missed":[28],"diagnosis":[29,71,165],"since":[30,169],"disease":[32],"itself":[33],"is":[34,43,124,189,202],"rare":[36],"one.":[37],"The":[38],"aim":[39],"study":[42,188],"to":[44,135],"establish":[45],"new":[47,204],"reliable":[48],"accurate":[50],"laboratory":[51],"method":[52,194],"for":[53,76,162,192],"separation,":[54],"identification":[55],"quantitation":[57,141],"urinary":[59,90,143,152,181],"porphyrins":[60,91,144,153,175,182],"by":[61,83,92,183,207],"liquid":[62,95],"chromatography":[63,96],"tandem":[64,99],"mass":[65,100],"spectrometry":[66,101],"(LC/MS/MS)":[67],"thereby":[69],"different":[73],"types":[75],"first":[78],"time":[79],"Egypt.":[81],"Screening":[82],"plasma":[84],"fluorescence":[85,122],"quantitative":[87],"determination":[88,150,179],"high":[93],"performance":[94],"electrospray":[97],"ionization":[98],"(HPLC/ESI/MS/MS)":[102],"50":[104],"clinically":[105],"suspected":[106],"patients":[107,138],"revealed":[108],"one":[109],"case":[110],"variegate":[112],"five":[115],"cases":[116],"cutanea":[119],"tarda.":[120],"Plasma":[121],"scanning":[123],"simple":[126],"procedure":[127],"that":[128,139],"can":[129],"be":[130],"used":[131,185],"as":[132,145],"screening":[133],"test":[134],"detect":[136],"require":[140],"second":[147],"step.":[148],"Quantitative":[149,178],"using":[154],"HPLC/ESI/MS/MS":[155,184],"ion":[157,199],"mapping":[158,200],"techniques":[159],"applicable":[161],"differential":[164],"types,":[168],"each":[170],"type":[171],"has":[172],"characteristic":[174],"excretion":[176],"profile.":[177],"this":[187],"modification":[191],"Stoev":[195],"et":[196],"al.":[197],"while":[198],"technique":[201,205],"invented":[206],"research":[209],"team":[210],"at":[211],"Biochemical":[213],"Genetics":[214],"Department.":[215]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":1},{"year":2021,"cited_by_count":1},{"year":2020,"cited_by_count":2},{"year":2019,"cited_by_count":1},{"year":2018,"cited_by_count":2},{"year":2017,"cited_by_count":1},{"year":2016,"cited_by_count":1},{"year":2014,"cited_by_count":1},{"year":2013,"cited_by_count":1}],"updated_date":"2026-11-13T13:42:25.865203","created_date":"2016-06-24T00:00:00"}
