{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,8]],"date-time":"2026-01-08T02:42:19Z","timestamp":1767840139605,"version":"3.49.0"},"reference-count":11,"publisher":"Oxford University Press (OUP)","issue":"3","license":[{"start":{"date-parts":[[2021,11,17]],"date-time":"2021-11-17T00:00:00Z","timestamp":1637107200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,5,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Glutathione synthetase (GSS) deficiency is a rare disorder, occurring with a frequency of less than 1 in 100,000 individuals worldwide. The clinical presentation may vary from mild to severe, and manifestations include hemolytic anemia, hyperbilirubinemia, metabolic acidosis, neurological problems, and sepsis. Herein, we present a case of a newborn boy with the most severe phenotype of GSS deficiency, diagnosed based on clinical features and increased urinary 5-oxoproline levels determined via gas chromatography mass spectrometry (GCMS) testing.<\/jats:p>","DOI":"10.1093\/labmed\/lmab084","type":"journal-article","created":{"date-parts":[[2021,8,13]],"date-time":"2021-08-13T11:08:49Z","timestamp":1628852929000},"page":"e59-e61","source":"Crossref","is-referenced-by-count":3,"title":["Gas Chromatography Mass Spectrometry Aided Diagnosis of Glutathione Synthetase Deficiency"],"prefix":"10.1093","volume":"53","author":[{"given":"Parminder","family":"Kaur","sequence":"first","affiliation":[{"name":"Genetic Metabolic Unit, Department of Pediatrics, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research (PGIMER) , Chandigarh , India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chakshu","family":"Chaudhry","sequence":"additional","affiliation":[{"name":"Genetic Metabolic Unit, Department of Pediatrics, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research (PGIMER) , Chandigarh , India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Inusha","family":"Panigrahi","sequence":"additional","affiliation":[{"name":"Genetic Metabolic Unit, Department of Pediatrics, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research (PGIMER) , Chandigarh , India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Priyanka","family":"Srivastava","sequence":"additional","affiliation":[{"name":"Genetic Metabolic Unit, Department of Pediatrics, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research (PGIMER) , Chandigarh , India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anupriya","family":"Kaur","sequence":"additional","affiliation":[{"name":"Genetic Metabolic Unit, Department of Pediatrics, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research (PGIMER) , Chandigarh , India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2021,11,17]]},"reference":[{"key":"2023020400315500200_CIT0001","author":"Glutathionesynthetase"},{"issue":"3","key":"2023020400315500200_CIT0002","doi-asserted-by":"crossref","first-page":"e6853","DOI":"10.1590\/1414-431x20176853","article-title":"A case of severe glutathione synthetase deficiency with novel GSS mutations","volume":"51","author":"Xia","year":"2018","journal-title":"Braz J Med Biol Res."},{"issue":"10","key":"2023020400315500200_CIT0003","doi-asserted-by":"crossref","first-page":"952","DOI":"10.1016\/j.braindev.2015.03.005","article-title":"Five Chinese 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following chronic feeding with N-acetyl 4-aminophenol (paracetamol)","volume":"46","author":"Ghauri","year":"1993","journal-title":"Biochem Pharmacol"},{"issue":"2","key":"2023020400315500200_CIT0011","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1016\/0009-8981(75)90240-5","article-title":"Increased pyroglutamic acid levels in patients on artificial diets","volume":"62","author":"Oberholzer","year":"1975","journal-title":"Clin Chim Acta."}],"container-title":["Laboratory 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