{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,11]],"date-time":"2025-07-11T11:10:12Z","timestamp":1752232212738,"version":"3.41.2"},"reference-count":20,"publisher":"Georg Thieme Verlag KG","issue":"04","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Klin Padiatr"],"published-print":{"date-parts":[[2025,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Lysosomal storage disorders (LSD) are a group of inherited inborn metabolism\n                    errors that are characterized by a deficiency in the lysosomal enzyme. In\n                    patients with suspected lipid storage disorders, confirmation of the diagnosis\n                    relies predominantly on the measurement of specific enzymatic activities and\n                    molecular genetic studies. New approaches to the measurement of\n                    lysosphingolipids have been developed that may serve as a rapid first-tier\n                    screening tests for the evaluation of lysosomal storage disorders. The present\n                    study evaluates the results of lysosphingolipid screening tests in patients with\n                    suspected lysosomal storage diseases. Lysosphingolipid elevation was detected in\n                    five patients examined with suspected lysosomal storage disease, and a\n                    definitive diagnosis was reached based on genetic analysis. Our data support\n                    recent evidence of the primary role of LysoSLs in the diagnosis of\n                    sphingolipidosis, and suggest that these biomarkers may be used for diagnosis\n                    and treatment monitoring in the future.<\/jats:p>","DOI":"10.1055\/a-2343-5616","type":"journal-article","created":{"date-parts":[[2024,9,25]],"date-time":"2024-09-25T19:01:32Z","timestamp":1727290892000},"page":"214-219","source":"Crossref","is-referenced-by-count":0,"title":["Evaluation of Lysosphingolipid Analysis for the Diagnosis of\n                    Lysosomal Storage Disease"],"prefix":"10.1055","volume":"237","author":[{"given":"Burcu","family":"Civelek-\u00dcrey","sequence":"additional","affiliation":[{"name":"Department of Pediatric Metabolism, Ankara Bilkent City Hospital,\n                    Ankara, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cigdem Seher","family":"Kasapkara","sequence":"additional","affiliation":[{"name":"Department of Pediatric Metabolism, Ankara Bilkent City Hospital,\n                    Ankara, Turkey"},{"name":"Department of Pediatric Metabolism, Ankara Yildirim Beyazit University,\n                    Ankara, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G\u00fcrsel","family":"Bibero\u011flu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Metabolism, Gazi University Faculty of\n                    Medicine, Ankara, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R\u0131dvan Murat","family":"\u00d6ktem","sequence":"additional","affiliation":[{"name":"Department of Pediatric Metabolism, Gazi University Faculty of\n                    Medicine, Ankara, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mehmet","family":"Gunduz","sequence":"additional","affiliation":[{"name":"Department of Pediatric Metabolism, Ankara Bilkent City Hospital,\n                    Ankara, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Oya","family":"K\u0131reker-K\u00f6yl\u00fc","sequence":"additional","affiliation":[{"name":"Department of Pediatric Metabolism, Ankara Bilkent City Hospital,\n                    Ankara, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Burak","family":"Y\u00fcrek","sequence":"additional","affiliation":[{"name":"Department of Pediatric Metabolism, Ankara Bilkent City Hospital,\n                    Ankara, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Berrak","family":"Bilginer G\u00fcrb\u00fcz","sequence":"additional","affiliation":[{"name":"Department of Pediatric Metabolism, Ankara Bilkent City Hospital,\n                    Ankara, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leyla","family":"Tumer","sequence":"additional","affiliation":[{"name":"Department of Pediatric Metabolism, Gazi University Faculty of\n                    Medicine, Ankara, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"194","published-online":{"date-parts":[[2024,9,25]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","first-page":"799","DOI":"10.1016\/j.bbalip.2013.10.015","article-title":"Sphingolipids and lysosomal pathologies","volume":"1841","author":"H Schulze","year":"2014","journal-title":"Biochim Biophys Acta"},{"key":"ref2","doi-asserted-by":"publisher","first-page":"68","DOI":"10.1038\/nature13476.","article-title":"Sphingolipid lysosomal storage\n                    disorders","volume":"510","author":"F M Platt","year":"2014","journal-title":"Nature"},{"key":"ref3","first-page":"8","volume-title":"Tan\u0131da yenilikler: Biyobelirte\u00e7ler ve tarama testleri. 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Mol Genet Metab"},{"key":"ref12","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1515\/cclm-2016-0340","article-title":"Diagnosis of sphingolipidoses: a new\n                    simultaneous measurement of lysosphingolipids by\n                    LC-MS\/MS","volume":"55","author":"G Polo","year":"2017","journal-title":"Clin Chem Lab Med"},{"key":"ref13","doi-asserted-by":"publisher","first-page":"30","DOI":"10.1159\/000525100.","article-title":"CLN3-Associated NCL Case with a\n                    Preliminary Diagnosis of Niemann Pick Type C","volume":"14","author":"\u00c7S Kasapkara","year":"2023","journal-title":"Mol\n                    Syndromol."},{"key":"ref14","doi-asserted-by":"publisher","first-page":"79","DOI":"10.1016\/j.clinbiochem.2020.10.011","article-title":"Detection of glucosylsphingosine in dried blood\n                    spots for diagnosis of Gaucher disease by LC-MS\/MS","volume":"87","author":"C Tang","year":"2021","journal-title":"Clin\n                    Biochem"},{"key":"ref15","doi-asserted-by":"publisher","first-page":"8080","DOI":"10.3390\/ijms21218080.","article-title":"Biomarkers in Anderson-Fabry\n                    Disease","volume":"21","author":"I Simonetta","year":"2020","journal-title":"Int J Mol Sci."},{"key":"ref16","doi-asserted-by":"publisher","first-page":"44","DOI":"10.1038\/gim.2018.31","article-title":"Effectiveness of plasma lysoGb3 as a biomarker\n                    for selecting high-risk patients with Fabry disease from multispecialty clinics\n                    for genetic analysis","volume":"21","author":"H Maruyama","year":"2019","journal-title":"Genet Med"},{"key":"ref17","doi-asserted-by":"publisher","first-page":"146","DOI":"10.37349\/ent.2021.00012","article-title":"Advancing Diagnosis and Treatment of Niemann-Pick C disease\n                    through Biomarker Discovery","volume":"1","author":"X Jiang","year":"2021","journal-title":"Explor Neuroprotective\n                    Ther."},{"key":"ref18","doi-asserted-by":"publisher","first-page":"387","DOI":"10.1016\/j.cca.2018.08.039","article-title":"The impact of biomarkers analysis in the\n                    diagnosis of Niemann-Pick C disease and acid sphingomyelinase\n                    deficiency","volume":"486","author":"F Deodato","year":"2018","journal-title":"Clin Chim Acta"},{"key":"ref19","doi-asserted-by":"publisher","first-page":"2059","DOI":"10.1007\/s00234-022-02988-9","article-title":"Natural history of MRI brain volumes in\n                    patients with neuronal ceroid lipofuscinosis 3: a sensitive imaging\n                    biomarker","volume":"64","author":"J N Hochstein","year":"2022","journal-title":"Neuroradiology"},{"key":"ref20","doi-asserted-by":"publisher","first-page":"136117","DOI":"10.1016\/j.neulet.2021.136117.","article-title":"Lefrancois SCLN3, at the crossroads of endocytic\n                    trafficking","volume":"762","author":"S L Cotman","year":"2021","journal-title":"Neurosci Lett"}],"container-title":["Klinische P\u00e4diatrie"],"original-title":[],"language":"de","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/a-2343-5616.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,7,11]],"date-time":"2025-07-11T10:57:07Z","timestamp":1752231427000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/a-2343-5616"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,9,25]]},"references-count":20,"journal-issue":{"issue":"04","published-online":{"date-parts":[[2025,7,10]]},"published-print":{"date-parts":[[2025,7]]}},"URL":"https:\/\/doi.org\/10.1055\/a-2343-5616","archive":["Portico","CLOCKSS"],"relation":{},"ISSN":["0300-8630","1439-3824"],"issn-type":[{"type":"print","value":"0300-8630"},{"type":"electronic","value":"1439-3824"}],"subject":[],"published":{"date-parts":[[2024,9,25]]}}}