Desirée E.C. Smith

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

Holger Cario, Desirée E.C. Smith, Henk J. Blom et al. · The American Journal of Human Genetics · 2011 · 137 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Adenosine Kinase Deficiency Disrupts the Methionine Cycle and Causes Hypermethioninemia, Encephalopathy, and Abnormal Liver Function

Magnus Bjursell, Henk J. Blom, Jordi Asin Cayuela et al. · The American Journal of Human Genetics · 2011 · 135 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +17

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

<i>S</i>-Adenosylmethionine Is Decreased in the Cerebrospinal Fluid of Patients with Alzheimer’s Disease

Michael Linnebank, Julius Popp, Yvo M. Smulders et al. · Neurodegenerative Diseases · 2010 · 102 citations · Full text

Medicine, Neurology, Neuroscience +13

Identification and Characterization of an Inborn Error of Metabolism Caused by Dihydrofolate Reductase Deficiency

Siddharth Banka, Henk J. Blom, John H. Walter et al. · The American Journal of Human Genetics · 2011 · 98 citations · Full text

Life Sciences, Biochemistry, Genetics +9