White matter abnormalities in an adult patient with l-2-hydroxyglutaric aciduria

De novo SOX11 mutations cause Coffin–Siris syndrome

Yoshinori Tsurusaki, Eriko Koshimizu, Hirofumi Ohashi et al. · Nature Communications · 2014 · 152 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

<scp>l</scp>-2-Hydroxyglutaric Aciduria: Pattern of MR Imaging Abnormalities in 56 Patients

Marjan E. Steenweg, Gajja S. Salomons, Graziella Uziel et al. · Radiology · 2009 · 100 citations

Medicine, Neurology, Radiology +14

D-2-Hydroxyglutaric aciduria: Biochemical marker or clinical disease entity?

Marjo S. van der Knaap, C. Jakobs, Georg F. Hoffmann et al. · Annals of Neurology · 1999 · 80 citations

Medicine, Neurology, Pediatrics +13

l -2-Hydroxyglutaric aciduria: two Japanese adult cases in one family

Junko Fujitake, Yasuhiro Ishikawa, Hayato Fujii et al. · Journal of Neurology · 1999 · 37 citations

Life Sciences, Biochemistry, Iron Metabolism Disorders +4

Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis

Carlos E. Prada, Claudia Gonzaga‐Jauregui, Rebecca J. Tannenbaum et al. · European Journal of Medical Genetics · 2014 · 29 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16