Simon E Olpin

Author PubWeight™ 11.33^‹?›

Top papers

Rank	Title	Journal	Year	PubWeight™‹?›
1	ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency.	Brain	2007	1.55
2	The paradox of the carnitine palmitoyltransferase type Ia P479L variant in Canadian Aboriginal populations.	Mol Genet Metab	2009	1.16
3	Mental retardation linked to mutations in the HSD17B10 gene interfering with neurosteroid and isoleucine metabolism.	Proc Natl Acad Sci U S A	2009	1.08
4	Phosphoserine aminotransferase deficiency: a novel disorder of the serine biosynthesis pathway.	Am J Hum Genet	2007	1.00
5	Novel OCTN2 mutations: no genotype-phenotype correlations: early carnitine therapy prevents cardiomyopathy.	Am J Med Genet	2002	0.99
6	The Y42H mutation in medium-chain acyl-CoA dehydrogenase, which is prevalent in babies identified by MS/MS-based newborn screening, is temperature sensitive.	Eur J Biochem	2004	0.94
7	Interstitial deletion of 1p22.2p31.1 and medium-chain acyl-CoA dehydrogenase deficiency in a patient with global developmental delay.	Am J Med Genet A	2008	0.89
8	The ETFDH c.158A>G variation disrupts the balanced interplay of ESE- and ESS-binding proteins thereby causing missplicing and multiple Acyl-CoA dehydrogenation deficiency.	Hum Mutat	2013	0.84
9	A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency.	Hum Genet	2015	0.79
10	Determinants of urinary methylmalonic acid concentration in an elderly population in the United Kingdom.	Am J Clin Nutr	2012	0.79
11	Glutaric aciduria type 1 in South Africa-high incidence of glutaryl-CoA dehydrogenase deficiency in black South Africans.	Mol Genet Metab	2010	0.79
12	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.	J Nutr	2012	0.78