D-2-hydroxyglutaric aciduria in a patient with speech delay due to a novel homozygous deletion in the D2HGDH gene

por Phillips, E., Sasarman, F., Sinasac, D.S., Al-Hertani, W.
Publicado 2019

LPIN1 deficiency with severe recurrent rhabdomyolysis and persistent elevation of creatine kinase levels due to chromosome 2 maternal isodisomy

por Meijer, I.A., Sasarman, F., Maftei, C., Rossignol, E., Vanasse, M., Major, P., Mitchell, G.A., Brunel-Guitton, C.
Publicado 2015