Hereditary folate malabsorption with extensive intracranial calcification
Author:
Publisher
Springer Science and Business Media LLC
Subject
Pediatrics, Perinatology and Child Health
Link
http://link.springer.com/content/pdf/10.1007/s13312-015-0571-8.pdf
Reference10 articles.
1. Luhby AL, Cooperman JM, Pesci-Bourel A. A new inborn error of metabolism: Folic acid responsive megaloblastic anemia, ataxia, mental retardation, and convulsions. J Pediatr. 1965;67:1052.
2. Jebnoun S, Kacem S, Mokrani C, Chabchoub A, Khrouf N, Zittoun J. A family study of congenital malabsorption of folate. J Inherit Metab Dis. 2001;24:749–50.
3. Lanzkowsky P, Erlandson ME, Bezan AI. Isolated defect of folic acid absorption associated with mental retardation and cerebral calcification. Blood. 1969;34:452–65.
4. Lanzkowsky P. Congenital malabsorption of folate. Am J Med. 1970;48:580–3.
5. Qiu A, Jansen M, Sakaris A, Min SH, Chattopadhyay S, Tsai E, et al. Identification of an intestinal folate transporter and the molecular basis for hereditary folate malabsorption. Cell. 2006;127:917–28.
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