|
1
|
A lethal defect of mitochondrial and peroxisomal fission.
|
N Engl J Med
|
2007
|
5.27
|
|
2
|
Sodium taurocholate cotransporting polypeptide (SLC10A1) deficiency: conjugated hypercholanemia without a clear clinical phenotype.
|
Hepatology
|
2014
|
2.19
|
|
3
|
HMG-CoA reductase inhibition induces IL-1beta release through Rac1/PI3K/PKB-dependent caspase-1 activation.
|
Blood
|
2008
|
1.54
|
|
4
|
Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3 beta-hydroxysterol delta 14-reductase deficiency due to mutations in the lamin B receptor gene.
|
Am J Hum Genet
|
2003
|
1.40
|
|
5
|
Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder.
|
Hum Mutat
|
2011
|
1.23
|
|
6
|
A novel defect of peroxisome division due to a homozygous non-sense mutation in the PEX11β gene.
|
J Med Genet
|
2012
|
1.17
|
|
7
|
Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency.
|
Hum Mutat
|
2006
|
0.99
|
|
8
|
Clinical, biochemical, and mutational spectrum of peroxisomal acyl-coenzyme A oxidase deficiency.
|
Hum Mutat
|
2007
|
0.94
|
|
9
|
Desmosterolosis-phenotypic and molecular characterization of a third case and review of the literature.
|
Am J Med Genet A
|
2011
|
0.91
|
|
10
|
Substrate specificity of human carnitine acetyltransferase: Implications for fatty acid and branched-chain amino acid metabolism.
|
Biochim Biophys Acta
|
2013
|
0.87
|
|
11
|
Mevalonate kinase is a cytosolic enzyme in humans.
|
J Cell Sci
|
2004
|
0.85
|
|
12
|
Phosphomevalonate kinase is a cytosolic protein in humans.
|
J Lipid Res
|
2004
|
0.85
|
|
13
|
Genotype-phenotype correlation in PEX5-deficient peroxisome biogenesis defective cell lines.
|
Hum Mutat
|
2009
|
0.84
|
|
14
|
Peroxisomes contribute to the acylcarnitine production when the carnitine shuttle is deficient.
|
Biochim Biophys Acta
|
2013
|
0.83
|
|
15
|
Human mevalonate pyrophosphate decarboxylase is localized in the cytosol.
|
Mol Genet Metab
|
2004
|
0.83
|
|
16
|
An unusual phenotype of X-linked developmental delay and extreme behavioral difficulties associated with a mutation in the EBP gene.
|
Am J Med Genet A
|
2014
|
0.75
|