Cerebral folate deficiency
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/s10545-010-9159-6
Reference49 articles.
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3. Blau N, Bonafe L, Krageloh-Mann I, Thony B, Kierat L, Hausler M, Ramaekers V (2003) Cerebrospinal fluid pterins and folates in Aicardi-Goutieres syndrome: A new phenotype. Neurology 61:642–647
4. Brautigam C, Wevers RA, Hyland K, Sharma RK, Knust A, Hoffman GF (2000) The influence of L-dopa on methylation capacity in aromatic L-amino acid decarboxylase deficiency: biochemical findings in two patients. J Inherit Metab Dis 23:321–324
5. 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
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