Dihydrofolate Reductase Deficiency Due to a Homozygous DHFR Mutation Causes Megaloblastic Anemia and Cerebral Folate Deficiency Leading to Severe Neurologic Disease

The importance of intracellular folate metabolism is illustrated by the severity of symptoms and complications caused by inborn disorders of folate metabolism or by folate deficiency. We examined three children of healthy, distantly related parents presenting with megaloblastic anemia and cerebral f...

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Hauptverfasser: Cario, Holger, Smith, Desirée E.C., Blom, Henk, Blau, Nenad, Bode, Harald, Holzmann, Karlheinz, Pannicke, Ulrich, Hopfner, Karl-Peter, Rump, Eva-Maria, Ayric, Zuleya, Kohne, Elisabeth, Debatin, Klaus-Michael, Smulders, Yvo, Schwarz, Klaus
Format: Artigo
Sprache:Inglês
Veröffentlicht: Elsevier 2011
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Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3035706/
https://ncbi.nlm.nih.gov/pubmed/21310277
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2011.01.007
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