{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,10]],"date-time":"2025-12-10T08:14:59Z","timestamp":1765354499066},"reference-count":10,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2017,5,1]],"date-time":"2017-05-01T00:00:00Z","timestamp":1493596800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Clinica Chimica Acta"],"published-print":{"date-parts":[[2017,5]]},"DOI":"10.1016\/j.cca.2017.02.012","type":"journal-article","created":{"date-parts":[[2017,2,21]],"date-time":"2017-02-21T00:47:42Z","timestamp":1487638062000},"page":"81-84","update-policy":"http:\/\/dx.doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":23,"special_numbering":"C","title":["Next-generation sequencing unravels homozygous mutation in glucose-6-phosphate isomerase, GPI c.1040G > A (p.Arg347His) causing hemolysis in an Indian infant"],"prefix":"10.1016","volume":"468","author":[{"given":"Manu","family":"Jamwal","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anu","family":"Aggarwal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anirban","family":"Das","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arindam","family":"Maitra","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Prashant","family":"Sharma","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shekhar","family":"Krishnan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Neeraj","family":"Arora","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Deepak","family":"Bansal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Reena","family":"Das","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.cca.2017.02.012_bb0005","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1093\/hmg\/2.3.327","article-title":"DNA sequence abnormalities in human glucose 6-phosphate isomerase deficiency","volume":"2","author":"Walker","year":"1993","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.cca.2017.02.012_bb0010","doi-asserted-by":"crossref","first-page":"467","DOI":"10.1016\/j.bbadis.2004.10.008","article-title":"Glucose phosphate isomerase deficiency: enzymatic and familial characterization of Arg346His mutation","volume":"1740","author":"Repiso","year":"2005","journal-title":"Biochim. Biophys. Acta Mol. basis Dis."},{"key":"10.1016\/j.cca.2017.02.012_bb0015","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1007\/s12185-012-1122-x","article-title":"Hereditary non-spherocytic hemolytic anemia and severe glucose phosphate isomerase deficiency in an Indian patient homozygous for the L487F mutation in the human GPI gene","volume":"96","author":"Warang","year":"2012","journal-title":"Int. J. Hematol."},{"key":"10.1016\/j.cca.2017.02.012_bb0020","doi-asserted-by":"crossref","first-page":"318","DOI":"10.1111\/bjh.14221","article-title":"A novel 33-gene targeted resequencing panel provides accurate, clinical-grade diagnosis and improves patient management for rare inherited anemias","volume":"175","author":"Roy","year":"2016","journal-title":"Br. J. Hematol."},{"key":"10.1016\/j.cca.2017.02.012_bb0025","doi-asserted-by":"crossref","first-page":"629","DOI":"10.1111\/ijlh.12551","article-title":"Detection of new pathogenic mutations in patients with congenital hemolytic anemia using next-generation sequencing","volume":"38","author":"Del Orbe Barreto","year":"2016","journal-title":"Int. J. Lab. Hematol."},{"key":"10.1016\/j.cca.2017.02.012_bb0030","doi-asserted-by":"crossref","first-page":"806","DOI":"10.1111\/bjh.14131","article-title":"Clinical utility of next-generation sequencing in the diagnosis of hereditary hemolytic anemias","volume":"174","author":"Agarwal","year":"2016","journal-title":"Br. J. Hematol."},{"key":"10.1016\/j.cca.2017.02.012_bb0035","doi-asserted-by":"crossref","first-page":"258","DOI":"10.1056\/NEJM198701293160506","article-title":"Glucose phosphate isomerase deficiency as a cause of hydrops fetalis","volume":"316","author":"Ravindranath","year":"1987","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.cca.2017.02.012_bb0040","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1016\/j.bcmd.2016.06.002","article-title":"Hereditary nonspherocytic hemolytic anemia caused by red cell glucose-6-phosphate isomerase (GPI) deficiency in two Portuguese patients: clinical features and molecular study","volume":"60","author":"Manco","year":"2016","journal-title":"Blood Cells Mol. Dis."},{"key":"10.1016\/j.cca.2017.02.012_bb0045","doi-asserted-by":"crossref","first-page":"1159","DOI":"10.1002\/humu.9466","article-title":"Red cell glucose phosphate isomerase (GPI): a molecular study of three novel mutations associated with hereditary nonspherocytic hemolytic anemia","volume":"27","author":"Repiso","year":"2006","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.cca.2017.02.012_bb0050","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1053\/beha.1999.0059","article-title":"Glucose-6-phosphate isomerase deficiency","volume":"13","author":"Kugler","year":"2000","journal-title":"Best Pract. Res. Clin. Haematol."}],"container-title":["Clinica Chimica Acta"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0009898117300645?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0009898117300645?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,9,4]],"date-time":"2018-09-04T01:53:38Z","timestamp":1536026018000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0009898117300645"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,5]]},"references-count":10,"alternative-id":["S0009898117300645"],"URL":"https:\/\/doi.org\/10.1016\/j.cca.2017.02.012","relation":{},"ISSN":["0009-8981"],"issn-type":[{"type":"print","value":"0009-8981"}],"subject":[],"published":{"date-parts":[[2017,5]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Next-generation sequencing unravels homozygous mutation in glucose-6-phosphate isomerase, GPIc.1040G>A (p.Arg347His) causing hemolysis in an Indian infant","name":"articletitle","label":"Article Title"},{"value":"Clinica Chimica Acta","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.cca.2017.02.012","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2017 Published by Elsevier B.V.","name":"copyright","label":"Copyright"}]}}