Nanda M. Verhoeven

X-Linked Creatine-Transporter Gene (SLC6A8) Defect: A New Creatine-Deficiency Syndrome

Gajja S. Salomons, Silvy J.M. van Dooren, Nanda M. Verhoeven et al. · The American Journal of Human Genetics · 2001 · 392 citations · Full text

Genetic Disorder, Genetics, Molecular Biology +4

Irreversible brain creatine deficiency with elevated serum and urine creatine: A creatine transporter defect?

Kim M. Cecil, G. S. Salomons, William S. Ball et al. · Annals of Neurology · 2001 · 183 citations

Mutations in the d-2-Hydroxyglutarate Dehydrogenase Gene Cause d-2-Hydroxyglutaric Aciduria

Eduard A. Struys, Gajja S. Salomons, Younès Achouri et al. · The American Journal of Human Genetics · 2005 · 171 citations · Full text

Biochemistry, Genetic Disorder, Genetics +3

GAMT deficiency

Saadet Mercimek‐Mahmutoglu, Sylvia Stoeckler-Ipsiroglu, A. Adami et al. · Neurology · 2006 · 156 citations

Knockout of <i>Slc25a19</i> causes mitochondrial thiamine pyrophosphate depletion, embryonic lethality, CNS malformations, and anemia

Marjorie J. Lindhurst, Giuseppe Fiermonte, Shiwei Song et al. · Proceedings of the National Academy of Sciences · 2006 · 154 citations · Full text

Embryonic Lethality, Genetics, Molecular Biology +18