{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T00:28:50Z","timestamp":1791419330697,"version":"4.3.3"},"reference-count":19,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2014,12,11]],"date-time":"2014-12-11T00:00:00Z","timestamp":1418256000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Blood &amp; Cancer"],"published-print":{"date-parts":[[2015,6]]},"abstract":"<jats:sec><jats:label\/><jats:p>Mutations in <jats:italic>SLC46A1<\/jats:italic> result in a defect of the proton coupled folate transporter (PCFT) and are the basis of hereditary folate malabsorption (HFM). Patients with HFM frequently present with neurodevelopmental delay and megaloblastic anemia. Some cases may be complicated by additional lymphopenia and immunodeficiency. We report a patient with a new homozygous mutation in the <jats:italic>SLC46A1<\/jats:italic> gene. The boy presented with early\u2010onset pancytopenia and secondary immunodeficiency. We provide clinical and molecular observations that extend the phenotypic description of HFM and highlight diagnostic as well as therapeutic pitfalls in this rare condition. Pediatr Blood cancer \u00a9 2014 Wiley\u2010Liss,Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pbc.25364","type":"journal-article","created":{"date-parts":[[2014,12,11]],"date-time":"2014-12-11T16:31:46Z","timestamp":1418315506000},"page":"1091-1094","source":"Crossref","is-referenced-by-count":17,"title":["Reversible pancytopenia and immunodeficiency in a patient with hereditary folate malabsorption"],"prefix":"10.1002","volume":"62","author":[{"given":"Miriam","family":"Erlacher","sequence":"first","affiliation":[{"name":"Department of Pediatrics and Adolescent Medicine University Medical Center Freiburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah Catharina","family":"Gr\u00fcnert","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Adolescent Medicine University Medical Center Freiburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annamaria","family":"Cseh","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Adolescent Medicine University Medical Center Freiburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Steinfeld","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Pediatric Neurology University Medical Center G\u00f6ttingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ulrich","family":"Salzer","sequence":"additional","affiliation":[{"name":"Center for Chronic Immunodeficiency University Medical Center Freiburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ekkehart","family":"Lausch","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Adolescent Medicine University Medical Center Freiburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ulrike","family":"Nosswitz","sequence":"additional","affiliation":[{"name":"Vestische Kinder\u2010 und Jugendklinik Datteln Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gregor","family":"D\u00fcckers","sequence":"additional","affiliation":[{"name":"HELIOS Klinikum Krefeld Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tim","family":"Niehues","sequence":"additional","affiliation":[{"name":"HELIOS Klinikum Krefeld Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephan","family":"Ehl","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Adolescent Medicine University Medical Center Freiburg Germany"},{"name":"Center for Chronic Immunodeficiency University Medical Center Freiburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charlotte Marie","family":"Niemeyer","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Adolescent Medicine University Medical Center Freiburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carsten","family":"Speckmann","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Adolescent Medicine University Medical Center Freiburg Germany"},{"name":"Center for Chronic Immunodeficiency University Medical Center Freiburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,12,11]]},"reference":[{"key":"e_1_2_3_2_1","unstructured":"Diop\u2010Bove N Kronn D Goldman ID. 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