Lista de obras - Simon Olpin - Dominio Público Uruguay

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

artículo científico publicado en 2012

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

artículo científico publicado en 2005

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

artículo científico publicado en 2012

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

artículo científico publicado en 2010

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

artículo científico publicado en 2007

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

artículo científico publicado en 2006

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

artículo científico publicado en 2002

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

artículo científico publicado en 2010

Hypertrophic pyloric stenosis: predicting the resolution of biochemical abnormalities

artículo científico publicado en 2011

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

artículo científico publicado en 2008

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

artículo científico publicado en 2010

MCAD deficiency in Denmark.

artículo científico publicado en 2012

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

artículo científico publicado en 2009

Niemann–Pick type C: a potentially treatable disorder?

artículo científico publicado el 1 de agosto de 2013

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

artículo científico publicado en 2002

Pathophysiology of fatty acid oxidation disorders and resultant phenotypic variability.

artículo científico

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

artículo científico publicado en 2007

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

artículo científico publicado en 2004

The metabolic investigation of sudden infant death.

artículo científico publicado en 2004

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

artículo científico publicado en 2009

Lista de obras de 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