Author:
Watkins David,Rosenblatt David S.
Subject
Genetics(clinical),Genetics
Reference26 articles.
1. Banka S, Blom HJ, Walter J, Aziz M, Urquhart J, Clouthier CM, Rice GI, de Brouwer APM, Hilton E, Vassallo G, Will A, Smith DEC, Smulders YM, Wevers RA, Steinfeld R, Heales S, Crow YJ, Pelletier JN, Jones S, Newman WG (2011) Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency. Am J Hum Genet 88:216–225
2. Cario H, Bode H, Debatin KM, Opladen T, Schwarz K (2009) Congenital null mutations of the FOLR1 gene; a progressive neurologic disease and its treatment. Neurology 73:2127–2129
3. Cario H, Smith DEC, Blom H, Blau N, Bode H, Holzmann K, Pannicke U, Hopfner KP, Rump EM, Ayric Z, Kohne E, Debatin KM, Smulders Y, Schwarz K (2011) Dihydrofolate reductase deficiency due to a homozygous DHFR mutation causes megaloblastic anemia and cerebral folate deficiency leading to severe neurologic disease. Am J Hum Genet 88:226–231
4. Cooper BA (1987) Anomalies congénitales du métabolisme des folates. In: Zittoun JA, Cooper BA (eds) Folates et Cobalamines. Doin, Paris, pp 193–208
5. Erbe RW (1986) Inborn errors of folate metabolism. In: Blakley RL, Benkovic SJ (eds) Folates and Pterins: volume 3–nutritional, pharmacological and physiological aspects. Wiley, New York, pp 413–465
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