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Banka S, Blom HJ, Walter J, Aziz M, Urquhart J, Clouthier CM, Rice GI, de
Brouwer AP, Hilton E, Vassallo G, Will A, Smith DE, Smulders YM, Wevers RA, Steinfeld R, Heales S, Crow YJ, Pelletier JN, Jones S, Newman WG (February 2011).
87:"Dihydrofolate reductase deficiency due to a homozygous DHFR mutation causes megaloblastic anemia and cerebral folate deficiency leading to severe neurologic disease"
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Cario H, Smith DE, Blom H, Blau N, Bode H, Holzmann K, Pannicke U, Hopfner KP, Rump EM, Ayric Z, Kohne E, Debatin KM, Smulders Y, Schwarz K (February 2011).
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and neurological symptoms of varying type and severity. The patient may have a developmental delay and develop epileptic seizures.
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137:"Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency"
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DHFR deficiency was first described in 2011 by two different groups of scientists independently.
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and the anemia. This reduces some symptoms of the disease.
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