Pathophysiology of fatty acid oxidation disorders and resultant phenotypic variability

por Olpin, Simon E
Publicado 2013

Recurrent rhabdomyolysis caused by carnitine palmitoyltransferase II deficiency, common but under-recognised: Lessons to be learnt

por Balasubramanian, M., Jenkins, T.M., Kirk, R.J., Nesbitt, I.M., Olpin, S.E., Hill, M., Gillett, G.T.
Publicado 2018

Response to Finsterer: CPT-II deficiency needs to be detected in army personnel

por Balasubramanian, M., Jenkins, T.M., Kirk, R.J., Nesbitt, I.M., Olpin, S.E., Hill, M., Gillett, G.T.
Publicado 2018

A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency

por Alston, Charlotte L., Ceccatelli Berti, Camilla, Blakely, Emma L., Oláhová, Monika, He, Langping, McMahon, Colin J., Olpin, Simon E., Hargreaves, Iain P., Nolli, Cecilia, McFarland, Robert, Goffrini, Paola, O’Sullivan, Maureen J., Taylor, Robert W.
Publicado 2015