Nanda M. Verhoeven
University Medical Center Utrecht(NL)
Publications by Year
Research Areas
Metabolism and Genetic Disorders, Peroxisome Proliferator-Activated Receptors, Amino Acid Enzymes and Metabolism, Muscle metabolism and nutrition, Folate and B Vitamins Research
Most-Cited Works
- → X-Linked Creatine-Transporter Gene (SLC6A8) Defect: A New Creatine-Deficiency Syndrome(2001)394 cited
- → Irreversible brain creatine deficiency with elevated serum and urine creatine: A creatine transporter defect?(2001)183 cited
- → X‐linked creatine transporter defect: An overview(2003)171 cited
- → Mutations in the d-2-Hydroxyglutarate Dehydrogenase Gene Cause d-2-Hydroxyglutaric Aciduria(2005)171 cited
- → GAMT deficiency(2006)157 cited
- → Knockout of Slc25a19 causes mitochondrial thiamine pyrophosphate depletion, embryonic lethality, CNS malformations, and anemia(2006)155 cited
- → Ribose-5-Phosphate Isomerase Deficiency: New Inborn Error in the Pentose Phosphate Pathway Associated with a Slowly Progressive Leukoencephalopathy(2004)151 cited
- → Measurement of Urinary d- and l-2-Hydroxyglutarate Enantiomers by Stable-Isotope-Dilution Liquid Chromatography–Tandem Mass Spectrometry after Derivatization with Diacetyl-l-Tartaric Anhydride(2004)147 cited
- → Transaldolase Deficiency: Liver Cirrhosis Associated with a New Inborn Error in the Pentose Phosphate Pathway(2001)137 cited
- → Creatine and guanidinoacetate: diagnostic markers for inborn errors in creatine biosynthesis and transport(2004)135 cited