Gajja S. Salomons

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

Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease

Rong Li, Gajja S. Salomons, James E. Goldman et al. · Annals of Neurology · 2005 · 268 citations

High Prevalence of SLC6A8 Deficiency in X-Linked Mental Retardation

Efraim H. Rosenberg, Lígia S. Almeida, Tjitske Kleefstra et al. · The American Journal of Human Genetics · 2004 · 209 citations · Full text

Psychiatry, Genetic Disorder, Genetics +6

Novel (ovario) leukodystrophy related to <i>AARS2</i> mutations

Cristina Dallabona, Daria Diodato, Sietske H. Kevelam et al. · Neurology · 2014 · 201 citations · Full text

<i>IDH2</i> Mutations in Patients with <scp>d</scp> -2-Hydroxyglutaric Aciduria

Martijn Kranendijk, Eduard A. Struys, Emile Van Schaftingen et al. · Science · 2010 · 192 citations

Urology, Somatic Variant, Aldehyde Dehydrogenase +15