Pathophysiology of fatty acid oxidation disorders and resultant phenotypic variability

por Olpin, Simon E
Publicado en J Inherit Metab Dis (2013)

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 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 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 en Hum Genet (2015)