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

Targeted gene knockout in mammalian cells by using engineered zinc-finger nucleases

Yolanda Santiago, Edmond M. Chan, Peiqi Liu et al. · Proceedings of the National Academy of Sciences · 2008 · 363 citations · Full text

Life Sciences, Molecular Biology, Molecular Genetics +14

Autoantibodies to Folate Receptors in the Cerebral Folate Deficiency Syndrome

V. Ramaekers, Sheldon P. Rothenberg, Jeffrey M. Sequeira et al. · New England Journal of Medicine · 2005 · 283 citations · Full text

Public Health, Neurology, Neuroscience +14

Global DNA methylation measured by liquid chromatography-tandem mass spectrometry: analytical technique, reference values and determinants in healthy subjects

Desirée E.C. Smith, Rob Barto, Annemieke M. W. Spijkerman et al. · Clinical Chemistry and Laboratory Medicine (CCLM) · 2007 · 103 citations

Medicine, Biochemistry, Molecular Biology +16

Quantitative determination of erythrocyte folate vitamer distribution by liquid chromatography-tandem mass spectrometry

Desirée E.C. Smith, Tom Teerlink, Cornelis Jakobs et al. · Clinical Chemistry and Laboratory Medicine (CCLM) · 2006 · 69 citations

Life Sciences, Biochemistry, Micronutrient Nutrition +10

CONGENITAL NULL MUTATIONS OF THE <i>FOLR1</i> GENE: A PROGRESSIVE NEUROLOGIC DISEASE AND ITS TREATMENT

Holger Cario, Harald Bode, Klaus‐Michael Debatin et al. · Neurology · 2009 · 64 citations

Life Sciences, Genetics, Neurology +13