SLC46A1/PCFT Deficiency Causing Hereditary Folate Malabsorption
Author:
Publisher
Springer International Publishing
Link
https://link.springer.com/content/pdf/10.1007/978-3-319-66816-1_1793-1
Reference26 articles.
1. Allen RH, Stabler SP, Lindenbaum J (1993) Serum betaine, N,N-dimethylglycine and N-methylglycine levels in patients with cobalamin and folate deficiency and related inborn errors of metabolism. Metabolism 42:1448–1460. https://doi.org/10.1016/0026-0495(93)90198-w
2. Aluri S, Zhao R, Lubout C, Goorden SMI, Fiser A, Goldman ID (2018) Hereditary folate malabsorption due to a mutation in the external gate of the proton-coupled folate transporter SLC46A1. Blood Adv 2:61–68. https://doi.org/10.1182/bloodadvances.2017012690
3. Erlacher M et al (2015) Reversible pancytopenia and immunodeficiency in a patient with hereditary folate malabsorption. Pediatr Blood Cancer 62:1091–1094. https://doi.org/10.1002/pbc.25364
4. Geller J, Kronn D, Jayabose S, Sandoval C (2002) Hereditary folate malabsorption: family report and review of the literature. Medicine (Baltimore) 81:51–68. https://doi.org/10.1097/00005792-200201000-00004
5. Goldman ID (2008 [updated 2022]) Hereditary folate malabsorption. Seattle (WA)
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