Glutaric aciduria type 1 in adulthood.

Por Prevett, M C, Howard, R S, Dalton, R N, Olpin, S E
Publicado em 1996

Recurrent Ventricular Tachycardia in Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency

Por Bala, P., Ferdinandusse, S., Olpin, S. E., Chetcuti, P., Morris, A. A. M.
Publicado no JIMD Rep (2015)

Cholestatic Jaundice Associated with Carnitine Palmitoyltransferase IA Deficiency

Por Morris, A A M, Olpin, S E, Bennett, M J, Santani, A, Stahlschmidt, J, McClean, P
Publicado em 2012

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 no Mol Genet Metab Rep (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 no Mol Genet Metab Rep (2018)

Mental retardation linked to mutations in the HSD17B10 gene interfering with neurosteroid and isoleucine metabolism

Por Yang, Song-Yu, He, Xue-Ying, Olpin, Simon E., Sutton, Vernon R., McMenamin, Joe, Philipp, Manfred, Denman, Robert B., Malik, Mazhar
Publicado em 2009

Phosphoserine Aminotransferase Deficiency: A Novel Disorder of the Serine Biosynthesis Pathway

Por Hart, Claire E., Race, Valerie, Achouri, Younes, Wiame, Elsa, Sharrard, Mark, Olpin, Simon E., Watkinson, Jennifer, Bonham, James R., Jaeken, Jaak, Matthijs, Gert, Van Schaftingen, Emile
Publicado em 2007

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 no Hum Genet (2015)