Combined D2-/L2-hydroxyglutaric aciduria (SLC25A1 deficiency): clinical course and effects of citrate treatment
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/s10545-014-9702-y
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3. Hagos Y, Krick W, Braulke T, Mühlhausen C, Burckhardt G, Burckhardt BC (2008) Organic anion transporters OAT1 and OAT4 mediate the high affinity transport of glutarate derivatives accumulating in patients with glutaric acidurias. Pflugers Arch 457:223–231
4. Kanungo S, Soares N, He M, Steiner RD (2013) Sterol metabolism disorders and neurodevelopment - an update. Dev Disabil Res Rev 17:197–210
5. Kranendijk M, Struys EA, Salomons GS, Van der Knaap MS, Jakobs C (2012) Progress in understanding 2-hydroxyglutaric acidurias. J Inherit Metab Dis 35:571–587
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