List of works - Simon Olpin

A vitamin B-12 supplement of 500 μg/d for eight weeks does not normalize urinary methylmalonic acid or other biomarkers of vitamin B-12 status in elderly people with moderately poor vitamin B-12 status

scientific article published on 12 December 2012

Clinical features of multiple cutaneous and uterine leiomyomatosis: an underdiagnosed tumor syndrome

scientific article published on 01 February 2005

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

scientific article published on 01 February 2012

Dysregulation of hypoxia pathways in fumarate hydratase-deficient cells is independent of defective mitochondrial metabolism.

scientific article published on 21 July 2010

ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency

scientific article

Fumarase deficiency caused by homozygous P131R mutation and paternal partial isodisomy of chromosome 1

scientific article

Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer

scientific article

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

scientific article published on 3 August 2010

Hypertrophic pyloric stenosis: predicting the resolution of biochemical abnormalities

scientific article published on 11 January 2011

Interstitial deletion of 1p22.2p31.1 and medium-chain acyl-CoA dehydrogenase deficiency in a patient with global developmental delay.

scientific article

Investigation and functional characterization of rare genetic variants in the adipose triglyceride lipase in a large healthy working population

scientific article

MCAD deficiency in Denmark.

scientific article published on 4 April 2012

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

scientific article

Niemann–Pick type C: a potentially treatable disorder?

scientific article published on August 1, 2013

Novel OCTN2 mutations: no genotype-phenotype correlations: early carnitine therapy prevents cardiomyopathy.

scientific article

Pathophysiology of fatty acid oxidation disorders and resultant phenotypic variability.

scientific article published on 15 May 2013

Phosphoserine aminotransferase deficiency: a novel disorder of the serine biosynthesis pathway

scientific article

The Y42H mutation in medium-chain acyl-CoA dehydrogenase, which is prevalent in babies identified by MS/MS-based newborn screening, is temperature sensitive.

scientific article published in October 2004

The metabolic investigation of sudden infant death.

scientific article published in July 2004

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

scientific article (publication date: April 2009)

List of works by Simon Olpin

A vitamin B-12 supplement of 500 μg/d for eight weeks does not normalize urinary methylmalonic acid or other biomarkers of vitamin B-12 status in elderly people with moderately poor vitamin B-12 status

Clinical features of multiple cutaneous and uterine leiomyomatosis: an underdiagnosed tumor syndrome

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

Dysregulation of hypoxia pathways in fumarate hydratase-deficient cells is independent of defective mitochondrial metabolism.

ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency

Fumarase deficiency caused by homozygous P131R mutation and paternal partial isodisomy of chromosome 1

Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer

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

Hypertrophic pyloric stenosis: predicting the resolution of biochemical abnormalities

Interstitial deletion of 1p22.2p31.1 and medium-chain acyl-CoA dehydrogenase deficiency in a patient with global developmental delay.

Investigation and functional characterization of rare genetic variants in the adipose triglyceride lipase in a large healthy working population

MCAD deficiency in Denmark.

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

Niemann–Pick type C: a potentially treatable disorder?

Novel OCTN2 mutations: no genotype-phenotype correlations: early carnitine therapy prevents cardiomyopathy.

Pathophysiology of fatty acid oxidation disorders and resultant phenotypic variability.

Phosphoserine aminotransferase deficiency: a novel disorder of the serine biosynthesis pathway

The Y42H mutation in medium-chain acyl-CoA dehydrogenase, which is prevalent in babies identified by MS/MS-based newborn screening, is temperature sensitive.

The metabolic investigation of sudden infant death.

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