{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T02:14:05Z","timestamp":1789179245048,"version":"build-2803163510"},"reference-count":12,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2021,6,22]],"date-time":"2021-06-22T00:00:00Z","timestamp":1624320000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2021,6,22]],"date-time":"2021-06-22T00:00:00Z","timestamp":1624320000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2021,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Congenital disorders of glycosylation are a group of rare monogenic inborn errors of metabolism caused by defective glycoprotein and glycolipid glycan synthesis and attachment. Here, we present a patient with galactose epimerase deficiency, also known as GALE deficiency, accompanied by pancytopenia and immune dysregulation. She was first identified by an abnormal newborn screen for galactosemia with subsequent genetic evaluation due to pancytopenia and immune dysregulation. The evaluation ultimately revealed that her known diagnosis of GALE deficiency was the cause of her hematologic and immune abnormalities. These findings further expand the clinical spectrum of disease of congenital disorders of glycosylation.<\/jats:p>","DOI":"10.1002\/ajmg.a.62384","type":"journal-article","created":{"date-parts":[[2021,6,22]],"date-time":"2021-06-22T22:57:32Z","timestamp":1624402652000},"page":"3118-3121","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Expansion of the clinical phenotype of\n                    <scp>GALE<\/scp>\n                    deficiency"],"prefix":"10.1002","volume":"185","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0008-8079","authenticated-orcid":false,"given":"Rebecca","family":"Markovitz","sequence":"first","affiliation":[{"name":"Department of Pediatrics Baylor College of Medicine  Houston Texas USA"},{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2691-3636","authenticated-orcid":false,"given":"Nichole","family":"Owen","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas USA"},{"name":"Baylor Genetics  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9402-1934","authenticated-orcid":false,"given":"Lisa Forbes","family":"Satter","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Section of Immunology, Allergy, and Retrovirology, Baylor College of Medicine  Houston Texas USA"},{"name":"William T. Shearer Texas Children's Hospital Center for Human Immunobiology Texas Children's Hospital  Houston Texas USA"},{"name":"Texas Children's Hospital  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6709-5460","authenticated-orcid":false,"given":"Susan","family":"Kirk","sequence":"additional","affiliation":[{"name":"Texas Children's Hospital  Houston Texas USA"},{"name":"Department of Pediatrics Section of Hematology\/Oncology, Baylor College of Medicine  Houston Texas USA"},{"name":"Texas Children's Hospital, Cancer and Hematology Centers  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Donald H.","family":"Mahoney","sequence":"additional","affiliation":[{"name":"Texas Children's Hospital  Houston Texas USA"},{"name":"Department of Pediatrics Section of Hematology\/Oncology, Baylor College of Medicine  Houston Texas USA"},{"name":"Texas Children's Hospital, Cancer and Hematology Centers  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1864-8502","authenticated-orcid":false,"given":"Alison A.","family":"Bertuch","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas USA"},{"name":"Texas Children's Hospital  Houston Texas USA"},{"name":"Department of Pediatrics Section of Hematology\/Oncology, Baylor College of Medicine  Houston Texas USA"},{"name":"Texas Children's Hospital, Cancer and Hematology Centers  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3502-8460","authenticated-orcid":false,"given":"Fernando","family":"Scaglia","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas USA"},{"name":"Texas Children's Hospital  Houston Texas USA"},{"name":"Joint BCM\u2010CUHK Center of Medical Genetics Prince of Wales Hospital  Hong Kong SAR"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,6,22]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.21037\/atm.2018.10.45"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-007-0790-9"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1097\/ACI.0000000000000126"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(84)90059-7"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2015.00054"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.hoc.2018.04.004"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1086\/498985"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/8904_2014_302"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/s0022-3476(95)70124-9"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddy334"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1600-0609.2003.00126.x"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1515\/jpem-2014-0462"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62384","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.62384","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62384","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,3,11]],"date-time":"2026-03-11T10:54:09Z","timestamp":1773226449000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.62384"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,6,22]]},"references-count":12,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2021,10]]}},"alternative-id":["10.1002\/ajmg.a.62384"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.62384","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,6,22]]},"assertion":[{"value":"2021-03-30","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-05-27","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-06-22","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}