{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,12]],"date-time":"2026-07-12T09:56:36Z","timestamp":1783850196554,"version":"3.55.0"},"reference-count":46,"publisher":"Walter de Gruyter GmbH","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2017,1,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Three siblings with thiamine-responsive megaloblastic anemia (TRMA) with a homozygous c.454delGGCATinsAT mutation in<\/jats:p>","DOI":"10.1515\/jpem-2016-0322","type":"journal-article","created":{"date-parts":[[2017,1,11]],"date-time":"2017-01-11T10:01:27Z","timestamp":1484128887000},"source":"Crossref","is-referenced-by-count":14,"title":["Beta cell function and clinical course in three siblings with thiamine-responsive megaloblastic anemia (TRMA) treated with thiamine supplementation"],"prefix":"10.1515","volume":"30","author":[{"given":"Kathryn","family":"Potter","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Wu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie","family":"Lauzon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Josephine","family":"Ho","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","reference":[{"key":"ref111","doi-asserted-by":"crossref","first-page":"888","DOI":"10.1016\/j.jpeds.2009.06.017","article-title":"Thiamine-responsive megaloblastic anemia: identification of novel compound heterozygotes and mutation update","volume":"155","year":"2009","journal-title":"J Pediatr"},{"key":"ref81","doi-asserted-by":"crossref","first-page":"384","DOI":"10.1111\/j.1399-5448.2012.00921.x","article-title":"Thiamine responsive megaloblastic anemia: a novel SLC19A2 compound heterozygous mutation in two siblings","volume":"14","year":"2013","journal-title":"Pediatr Diabetes"},{"key":"ref281","first-page":"1295","article-title":"Five years followup of diabetes mellitus in two siblings with thiamine responsive megaloblastic anemia","volume":"38","year":"2001","journal-title":"Indian Pediatr"},{"key":"ref351","doi-asserted-by":"crossref","first-page":"787","DOI":"10.1530\/eje.1.02305","article-title":"Thiamine transporter mutation: an example of monogenic diabetes mellitus","volume":"155","year":"2006","journal-title":"Eur J Endocrinol"},{"key":"ref341","doi-asserted-by":"crossref","first-page":"888","DOI":"10.1016\/j.jpeds.2009.06.017","article-title":"Thiamine-responsive megaloblastic anemia: identification of novel compound heterozygotes and mutation update","volume":"155","year":"2009","journal-title":"J Pediatr"},{"key":"ref21","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1076\/1381-6810(200012)2141-HFT243","article-title":"Thiamine-responsive megaloblastic anemia syndrome (TRMA) with cone-rod dystrophy","volume":"21","year":"2000","journal-title":"Ophthalmic Genet"},{"key":"ref401","doi-asserted-by":"crossref","first-page":"528","DOI":"10.1002\/pbc.24849","article-title":"Thiamine responsive megaloblastic anemia: the puzzling phenotype","volume":"61","year":"2014","journal-title":"Pediatr Blood Cancer"},{"key":"ref371","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1007\/s005920070027","article-title":"Thiamine, beta-cell function and peripheral glucose utilization in thiamine-responsive megaloblastic anemia (TRMA) syndrome","volume":"37","year":"2000","journal-title":"Acta Diabetol"},{"key":"ref211","doi-asserted-by":"crossref","first-page":"314","DOI":"10.1111\/j.1399-5448.2012.00855.x","article-title":"Recessive SLC19A2 mutations are a cause of neonatal diabetes mellitus in thiamine-responsive megaloblastic anaemia","volume":"13","year":"2012","journal-title":"Pediatr Diabetes"},{"key":"ref391","first-page":"393","article-title":"Thiamine withdrawal can lead to diabetic ketoacidosis in thiamine responsive megaloblastic anemia: report of two siblings","volume":"21","year":"2008","journal-title":"J Pediatr Endocrinol Metab"},{"key":"ref361","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1007\/s12098-009-0058-5","article-title":"Thiamine responsive megaloblastic anemia syndrome","volume":"76","year":"2009","journal-title":"Indian J Pediatr"},{"key":"ref71","doi-asserted-by":"crossref","first-page":"947","DOI":"10.1210\/jcem.85.3.6419","article-title":"Acute ischemic stroke in a young woman with the thiamine-responsive megaloblastic anemia syndrome","volume":"85","year":"2000","journal-title":"J Clin Endocrinol Metab"},{"key":"ref381","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1016\/j.ando.2009.09.001","article-title":"Diabetic acido-ketosis revealing thiamine-responsive megaloblastic anemia","volume":"70","year":"2009","journal-title":"Ann Endocrinol (Paris)"},{"key":"ref311","doi-asserted-by":"crossref","first-page":"384","DOI":"10.1111\/j.1399-5448.2012.00921.x","article-title":"Thiamine responsive megaloblastic anemia: a novel SLC19A2 compound heterozygous mutation in two siblings","volume":"14","year":"2013","journal-title":"Pediatr Diabetes"},{"key":"ref61","doi-asserted-by":"crossref","first-page":"508","DOI":"10.1046\/j.1365-2141.2001.02774.x","article-title":"A novel mutation in the SLC19A2 gene in a Tunisian family with thiamine-responsive megaloblastic anaemia, diabetes and deafness syndrome","volume":"113","year":"2001","journal-title":"Br J Haematol"},{"key":"ref421","doi-asserted-by":"crossref","first-page":"e108087","DOI":"10.1371\/journal.pone.0108087","article-title":"Genome-wide investigation of DNA methylation marks associated with FV Leiden mutation","volume":"9","year":"2014","journal-title":"PLoS One"},{"key":"ref41","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1080\/08035250500323715","article-title":"Thiamine-responsive megaloblastic anaemia syndrome: long-term follow-up and mutation analysis of seven families","volume":"95","year":"2006","journal-title":"Acta Paediatr"},{"key":"ref171","doi-asserted-by":"crossref","first-page":"528","DOI":"10.1002\/pbc.24849","article-title":"Thiamine responsive megaloblastic anemia: the puzzling phenotype","volume":"61","year":"2014","journal-title":"Pediatr Blood Cancer"},{"key":"ref141","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1007\/s005920070027","article-title":"Thiamine, beta-cell function and peripheral glucose utilization in thiamine-responsive megaloblastic anemia (TRMA) syndrome","volume":"37","year":"2000","journal-title":"Acta Diabetol"},{"key":"ref251","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1076\/1381-6810(200012)2141-HFT243","article-title":"Thiamine-responsive megaloblastic anemia syndrome (TRMA) with cone-rod dystrophy","volume":"21","year":"2000","journal-title":"Ophthalmic Genet"},{"key":"ref101","doi-asserted-by":"crossref","first-page":"646","DOI":"10.4103\/2230-8210.98033","article-title":"Thiamine responsive megaloblastic anemia syndrome associated with patent ductus arteriosus: First case report from Kashmir Valley of the Indian subcontinent","volume":"16","year":"2012","journal-title":"Indian J Endocrinol Metab"},{"key":"ref201","doi-asserted-by":"crossref","first-page":"1521","DOI":"10.1111\/j.1538-7836.2012.04810.x","article-title":"A genome-wide association study of venous thromboembolism identifies risk variants in chromosomes 1q24.2 and 9q","volume":"10","year":"2012","journal-title":"J Thromb Haemost"},{"key":"ref321","doi-asserted-by":"crossref","first-page":"1711","DOI":"10.1007\/s00431-012-1730-8","article-title":"Thiamine-responsive megaloblastic anemia (TRMA) in an Austrian boy with compound heterozygous SLC19A2 mutations","volume":"171","year":"2012","journal-title":"Eur J Pediatr"},{"key":"ref51","first-page":"1295","article-title":"Five years followup of diabetes mellitus in two siblings with thiamine responsive megaloblastic anemia","volume":"38","year":"2001","journal-title":"Indian Pediatr"},{"key":"ref131","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1007\/s12098-009-0058-5","article-title":"Thiamine responsive megaloblastic anemia syndrome","volume":"76","year":"2009","journal-title":"Indian J Pediatr"},{"key":"ref31","first-page":"149","article-title":"Thiamine-responsive megaloblastic anemia syndrome: a novel mutation","volume":"23","year":"2012","journal-title":"Genet Couns"},{"key":"ref121","doi-asserted-by":"crossref","first-page":"787","DOI":"10.1530\/eje.1.02305","article-title":"Thiamine transporter mutation: an example of monogenic diabetes mellitus","volume":"155","year":"2006","journal-title":"Eur J Endocrinol"},{"key":"ref221","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1016\/S0022-3476(78)80503-4","article-title":"Thiamine-responsive megaloblastic anemia, sensorineural deafness, and diabetes mellitus: A new syndrome?","volume":"93","year":"1978","journal-title":"J Pediatr"},{"key":"ref291","doi-asserted-by":"crossref","first-page":"508","DOI":"10.1046\/j.1365-2141.2001.02774.x","article-title":"A novel mutation in the SLC19A2 gene in a Tunisian family with thiamine-responsive megaloblastic anaemia, diabetes and deafness syndrome","volume":"113","year":"2001","journal-title":"Br J Haematol"},{"key":"ref301","doi-asserted-by":"crossref","first-page":"947","DOI":"10.1210\/jcem.85.3.6419","article-title":"Acute ischemic stroke in a young woman with the thiamine-responsive megaloblastic anemia syndrome","volume":"85","year":"2000","journal-title":"J Clin Endocrinol Metab"},{"key":"ref331","doi-asserted-by":"crossref","first-page":"646","DOI":"10.4103\/2230-8210.98033","article-title":"Thiamine responsive megaloblastic anemia syndrome associated with patent ductus arteriosus: First case report from Kashmir Valley of the Indian subcontinent","volume":"16","year":"2012","journal-title":"Indian J Endocrinol Metab"},{"key":"ref271","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1080\/08035250500323715","article-title":"Thiamine-responsive megaloblastic anaemia syndrome: long-term follow-up and mutation analysis of seven families","volume":"95","year":"2006","journal-title":"Acta Paediatr"},{"key":"ref241","doi-asserted-by":"crossref","first-page":"669","DOI":"10.1136\/jmg.37.9.669","article-title":"A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex I","volume":"37","year":"2000","journal-title":"J Med Genet"},{"key":"ref181","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1097\/PEC.0000000000000306","article-title":"Venous stroke and status epilepticus due to milk-induced anemia in a child","volume":"31","year":"2015","journal-title":"Pediatr Emerg Care"},{"key":"ref411","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1097\/PEC.0000000000000306","article-title":"Venous stroke and status epilepticus due to milk-induced anemia in a child","volume":"31","year":"2015","journal-title":"Pediatr Emerg Care"},{"key":"ref91","doi-asserted-by":"crossref","first-page":"1711","DOI":"10.1007\/s00431-012-1730-8","article-title":"Thiamine-responsive megaloblastic anemia (TRMA) in an Austrian boy with compound heterozygous SLC19A2 mutations","volume":"171","year":"2012","journal-title":"Eur J Pediatr"},{"key":"ref231","first-page":"295","article-title":"Mitochondrial diabetes, diabetes and the thiamine-responsive megaloblastic anaemia syndrome and MODY-2. Diseases with common pathophysiology?","volume":"44","year":"2002","journal-title":"Panminerva Med"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"669","DOI":"10.1136\/jmg.37.9.669","article-title":"A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex I","volume":"37","year":"2000","journal-title":"J Med Genet"},{"key":"ref151","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1016\/j.ando.2009.09.001","article-title":"Diabetic acido-ketosis revealing thiamine-responsive megaloblastic anemia","volume":"70","year":"2009","journal-title":"Ann Endocrinol (Paris)"},{"key":"ref261","first-page":"149","article-title":"Thiamine-responsive megaloblastic anemia syndrome: a novel mutation","volume":"23","year":"2012","journal-title":"Genet Couns"},{"key":"ref431","doi-asserted-by":"crossref","first-page":"1521","DOI":"10.1111\/j.1538-7836.2012.04810.x","article-title":"A genome-wide association study of venous thromboembolism identifies risk variants in chromosomes 1q24.2 and 9q","volume":"10","year":"2012","journal-title":"J Thromb Haemost"},{"key":"ref161","first-page":"393","article-title":"Thiamine withdrawal can lead to diabetic ketoacidosis in thiamine responsive megaloblastic anemia: report of two siblings","volume":"21","year":"2008","journal-title":"J Pediatr Endocrinol Metab"},{"key":"ref441","doi-asserted-by":"crossref","first-page":"314","DOI":"10.1111\/j.1399-5448.2012.00855.x","article-title":"Recessive SLC19A2 mutations are a cause of neonatal diabetes mellitus in thiamine-responsive megaloblastic anaemia","volume":"13","year":"2012","journal-title":"Pediatr Diabetes"},{"key":"ref01","first-page":"295","article-title":"Mitochondrial diabetes, diabetes and the thiamine-responsive megaloblastic anaemia syndrome and MODY-2. Diseases with common pathophysiology?","volume":"44","year":"2002","journal-title":"Panminerva Med"},{"key":"ref451","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1016\/S0022-3476(78)80503-4","article-title":"Thiamine-responsive megaloblastic anemia, sensorineural deafness, and diabetes mellitus: A new syndrome?","volume":"93","year":"1978","journal-title":"J Pediatr"},{"key":"ref191","doi-asserted-by":"crossref","first-page":"e108087","DOI":"10.1371\/journal.pone.0108087","article-title":"Genome-wide investigation of DNA methylation marks associated with FV Leiden mutation","volume":"9","year":"2014","journal-title":"PLoS One"}],"container-title":["Journal of Pediatric Endocrinology and Metabolism"],"original-title":[],"link":[{"URL":"http:\/\/www.degruyter.com\/view\/j\/jpem.2017.30.issue-2\/jpem-2016-0322\/jpem-2016-0322.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2016-0322\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,7,21]],"date-time":"2022-07-21T07:44:20Z","timestamp":1658389460000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2016-0322\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,1,1]]},"references-count":46,"journal-issue":{"issue":"2"},"URL":"https:\/\/doi.org\/10.1515\/jpem-2016-0322","relation":{},"ISSN":["2191-0251","0334-018X"],"issn-type":[{"value":"2191-0251","type":"electronic"},{"value":"0334-018X","type":"print"}],"subject":[],"published":{"date-parts":[[2017,1,1]]}}}