Publications by authors named "Simon E Olpin"

16Publications

Pathophysiology of fatty acid oxidation disorders and resultant phenotypic variability.

Authors:
Simon E Olpin

J Inherit Metab Dis 2013 Jul 15;36(4):645-58. Epub 2013 May 15.

Department of Clinical Chemistry, Sheffield Children's Hospital, Sheffield S10 2TH, UK.

View Article and Find Full Text PDF
July 2013

Determinants of urinary methylmalonic acid concentration in an elderly population in the United Kingdom.

Am J Clin Nutr 2012 Mar 1;95(3):686-93. Epub 2012 Feb 1.

Human Nutrition Unit, Faculty of Medicine, Dentistry and Health, University of Sheffield, Sheffield, United Kingdom.

View Article and Find Full Text PDF
March 2012

Glutaric aciduria type 1 in South Africa-high incidence of glutaryl-CoA dehydrogenase deficiency in black South Africans.

Mol Genet Metab 2010 Oct-Nov;101(2-3):178-82. Epub 2010 Aug 3.

Division of Chemical Pathology, Groote Schuur and Red Cross Children's Hospitals, University of Cape Town, Cape Town, South Africa.

View Article and Find Full Text PDF
January 2011

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

Proc Natl Acad Sci U S A 2009 Sep 17;106(35):14820-4. Epub 2009 Aug 17.

Department of Neurochemistry, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, NY 10314, USA.

View Article and Find Full Text PDF
September 2009

The paradox of the carnitine palmitoyltransferase type Ia P479L variant in Canadian Aboriginal populations.

Mol Genet Metab 2009 Apr 13;96(4):201-7. Epub 2009 Feb 13.

Department of Pediatrics and Child Health, University of Manitoba, Children's Hospital, CE208-820 Sherbrook Street, Winnipeg, MB, Canada R3A 1R9.

View Article and Find Full Text PDF
April 2009

Fatty acid oxidation defects as a cause of neuromyopathic disease in infants and adults.

Authors:
Simon E Olpin

Clin Lab 2005 ;51(5-6):289-306

Department of Clinical Chemistry, Sheffield Children's Hospital, Sheffield, S10 2TH, UK.

View Article and Find Full Text PDF
November 2005

The metabolic investigation of sudden infant death.

Authors:
Simon E Olpin

Ann Clin Biochem 2004 Jul;41(Pt 4):282-93

Department of Clinical Chemistry, Sheffield Children's Hospital, Sheffield S10 2TH, UK.

View Article and Find Full Text PDF
July 2004