{"id":"https://openalex.org/W2181950481","doi":null,"title":"Serum very-long-chain fatty acids levels determined by gas chromatography in the diagnosis of peroxisomal disorders in Poland.","display_name":"Serum very-long-chain fatty acids levels determined by gas chromatography in the diagnosis of peroxisomal disorders in Poland.","publication_year":2009,"publication_date":"2009-01-01","ids":{"openalex":"https://openalex.org/W2181950481","mag":"2181950481","pmid":"https://pubmed.ncbi.nlm.nih.gov/20054782"},"language":"en","primary_location":{"id":"pmid:20054782","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/20054782","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Folia neuropathologica","raw_type":"Journal Article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["pubmed"],"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/A5017164841","display_name":"Teresa Joanna Stradomska","orcid":"https://orcid.org/0000-0002-5585-413X","observed_orcids":["https://orcid.org/0000-0002-5585-413X"]},"institutions":[{"id":"https://openalex.org/I4210114383","display_name":"Children's Memorial Health Institute","ror":"https://ror.org/020atbp69","country_code":"PL","type":"healthcare","lineage":["https://openalex.org/I4210114383"]}],"countries":["PL"],"is_corresponding":false,"raw_author_name":"Teresa Joanna Stradomska","raw_affiliation_strings":["Department of Biochemistry and Experimental Medicine, The Children's Memorial Health Institute Warsaw, Poland. j.de.stradomska@gmail.com"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biochemistry and Experimental Medicine, The Children's Memorial Health Institute Warsaw, Poland. j.de.stradomska@gmail.com","institution_ids":["https://openalex.org/I4210114383"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5053598953","display_name":"Anna Tylki\u2010Szyma\u0144ska","orcid":"https://orcid.org/0000-0002-8935-1768","observed_orcids":["https://orcid.org/0000-0002-8935-1768","https://orcid.org/0000-0001-7306-6877"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Anna Tylki-Szyma\u0144ska","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":11,"citation_normalized_percentile":{"value":0.0,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":87,"max":96},"biblio":{"volume":"47","issue":"4","first_page":"306","last_page":"13"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.9994999766349792,"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"}},"topics":[{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.9994999766349792,"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":0.00019999999494757503,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics (clinical)"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T12331","display_name":"Hereditary Neurological Disorders","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/peroxisomal-disorders","display_name":"peroxisomal disorders","score":0.9769999980926514},{"id":"https://openalex.org/keywords/very-long-chain-fatty-acids","display_name":"very long chain fatty acids","score":0.9950000047683716},{"id":"https://openalex.org/keywords/peroxisome-biogenesis-disorders","display_name":"peroxisome biogenesis disorders","score":0.8889999985694885},{"id":"https://openalex.org/keywords/x-linked-adrenoleukodystrophy","display_name":"X-linked adrenoleukodystrophy","score":0.9660000205039978},{"id":"https://openalex.org/keywords/adrenoleukodystrophy","display_name":"adrenoleukodystrophy","score":0.8270000219345093},{"id":"https://openalex.org/keywords/diagnostic-biomarkers","display_name":"diagnostic biomarkers","score":0.6759999990463257},{"id":"https://openalex.org/keywords/disease-frequency","display_name":"disease frequency","score":0.703000009059906},{"id":"https://openalex.org/keywords/delayed-diagnosis","display_name":"delayed diagnosis","score":0.7350000143051147},{"id":"https://openalex.org/keywords/survival","display_name":"survival","score":0.6650000214576721},{"id":"https://openalex.org/keywords/poland","display_name":"Poland","score":0.8939999938011169}],"concepts":[{"id":"https://openalex.org/C127078168","wikidata":"https://www.wikidata.org/wiki/Q138639","display_name":"Peroxisome","level":3,"score":0.9428736567497253},{"id":"https://openalex.org/C2777150068","wikidata":"https://www.wikidata.org/wiki/Q366964","display_name":"Adrenoleukodystrophy","level":4,"score":0.9394900798797607},{"id":"https://openalex.org/C2781317408","wikidata":"https://www.wikidata.org/wiki/Q3281322","display_name":"Peroxisomal disorder","level":4,"score":0.9209967851638794},{"id":"https://openalex.org/C131934819","wikidata":"https://www.wikidata.org/wiki/Q135390","display_name":"Biogenesis","level":3,"score":0.638329267501831},{"id":"https://openalex.org/C2777485865","wikidata":"https://www.wikidata.org/wiki/Q189167","display_name":"Zellweger syndrome","level":4,"score":0.6053102016448975},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.5409314632415771},{"id":"https://openalex.org/C2781197716","wikidata":"https://www.wikidata.org/wiki/Q864574","display_name":"Biomarker","level":2,"score":0.49215167760849},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.4808512330055237},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.41119006276130676},{"id":"https://openalex.org/C185592680","wikidata":"https://www.wikidata.org/wiki/Q2329","display_name":"Chemistry","level":0,"score":0.4029233753681183},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.40283524990081787},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.139469712972641},{"id":"https://openalex.org/C170493617","wikidata":"https://www.wikidata.org/wiki/Q208467","display_name":"Receptor","level":2,"score":0.0}],"mesh":[{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000704","descriptor_name":"Analysis of Variance","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001774","descriptor_name":"Blood Chemical Analysis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002675","descriptor_name":"Child, Preschool","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002849","descriptor_name":"Chromatography, Gas","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005227","descriptor_name":"Fatty Acids","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":true},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007223","descriptor_name":"Infant","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008875","descriptor_name":"Middle Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011044","descriptor_name":"Poland","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018901","descriptor_name":"Peroxisomal Disorders","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":true},{"descriptor_ui":"D018901","descriptor_name":"Peroxisomal Disorders","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false}],"locations_count":1,"locations":[{"id":"pmid:20054782","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/20054782","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Folia neuropathologica","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.98580002784729}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":28,"referenced_works":["https://openalex.org/W80253783","https://openalex.org/W169485022","https://openalex.org/W1558148481","https://openalex.org/W1572431895","https://openalex.org/W1871122795","https://openalex.org/W1908587496","https://openalex.org/W1970632240","https://openalex.org/W1973343526","https://openalex.org/W1987876984","https://openalex.org/W1993086885","https://openalex.org/W2000489985","https://openalex.org/W2003109429","https://openalex.org/W2010813706","https://openalex.org/W2013862217","https://openalex.org/W2020509659","https://openalex.org/W2035110182","https://openalex.org/W2054026377","https://openalex.org/W2076077839","https://openalex.org/W2091170453","https://openalex.org/W2112446544","https://openalex.org/W2116537071","https://openalex.org/W2126108038","https://openalex.org/W2147536089","https://openalex.org/W2187585551","https://openalex.org/W2222090074","https://openalex.org/W2231081458","https://openalex.org/W2499954606","https://openalex.org/W4245388534"],"related_works":["https://openalex.org/W3087669175","https://openalex.org/W4391520839","https://openalex.org/W1973343526","https://openalex.org/W4296501107","https://openalex.org/W3043111269","https://openalex.org/W2094779769","https://openalex.org/W2125150217","https://openalex.org/W2779376398","https://openalex.org/W127480946","https://openalex.org/W2320254576"],"abstract_inverted_index":{"Peroxisomal":[0],"disorders":[1,50,79],"are":[2],"a":[3,22,26,59],"large":[4],"group":[5],"of":[6,15,24,35,43,48,74,102,113,125,138],"genetically":[7],"determined":[8,65],"metabolic":[9],"diseases":[10],"in":[11,45,51,69,83,89,95,118],"which":[12],"the":[13,46],"biogenesis":[14,78],"peroxisomes":[16],"is":[17,21,38],"defective":[18],"or":[19,30,98],"there":[20],"deficiency":[23,88],"only":[25],"single":[27],"enzyme":[28],"activity":[29],"substrate":[31],"transporter.":[32],"The":[33,100],"objective":[34],"this":[36],"report":[37],"to":[39],"present":[40],"ten":[41],"years":[42,133],"experience":[44],"diagnostics":[47],"peroxisomal":[49,62],"Poland.":[52,119],"Very-long-chain":[53],"fatty":[54],"acid":[55],"(VLCFA)":[56],"levels":[57],"as":[58,106],"biomarker":[60],"for":[61,129,144],"defects":[63],"were":[64,81],"by":[66],"gas":[67],"chromatography":[68],"1264":[70],"subjects":[71],"with":[72],"suspicion":[73],"peroxisome":[75],"disease.":[76],"Peroxisome":[77],"(PBD)":[80],"diagnosed":[82],"8":[84],"patients,":[85],"bifunctional":[86],"protein":[87],"3":[90],"and":[91,111,127,142],"X-linked":[92],"adrenoleukodystrophy":[93],"(X-ALD/AMN)":[94],"127":[96],"hemi-":[97],"heterozygotes.":[99],"frequency":[101],"PBD":[103,145],"was":[104,131,153],"estimated":[105],"0.20":[107],":":[108,116],"100":[109],"000,":[110],"that":[112],"X-ALD/AMN":[114,130],"2.9":[115],"100,000":[117],"Mean":[120],"total":[121],"delay":[122],"time":[123],"(onset":[124],"symptoms":[126],"diagnosis)":[128],"2.2":[132],"(range":[134],"0.25-13).":[135],"High":[136],"correlation":[137],"serum":[139],"C26:0":[140],"concentration":[141],"survival":[143],"patient":[146],"(r2":[147],"=":[148],"0.822;":[149],"p":[150],"<":[151],"0.001)":[152],"found.":[154]},"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":1},{"year":2022,"cited_by_count":3},{"year":2021,"cited_by_count":1},{"year":2020,"cited_by_count":1},{"year":2019,"cited_by_count":1},{"year":2017,"cited_by_count":1},{"year":2015,"cited_by_count":1},{"year":2014,"cited_by_count":1}],"updated_date":"2026-11-10T11:39:43.021295","created_date":"2016-06-24T00:00:00"}
