Beneficial outcome of early dietary lysine restriction as an adjunct to pyridoxine therapy in a child with pyridoxine dependant epilepsy due to Antiquitin deficiency

por Kava, Maina P., Bryant, Leah, Rowe, Peter, Lewis, Barry, Greed, Lawrence, Balasubramaniam, Shanti
Publicado 2020

A novel variant in COX16 causes cytochrome c oxidase deficiency, severe fatal neonatal lactic acidosis, encephalopathy, cardiomyopathy, and liver dysfunction

por Wintjes, Liesbeth T. M., Kava, Maina, van den Brandt, Frans A., van den Brand, Mariël A. M., Lapina, Oksana, Bliksrud, Yngve T., Kulseth, Mari A., Amundsen, Silja S., Selberg, Terje R., Ybema‐Antoine, Marion, Tutakhel, Omar A. Z., Greed, Lawrence, Thorburn, David R., Tangeraas, Trine, Balasubramaniam, Shanti, Rodenburg, Richard J. T.
Publicado 2020