Published in Hum Mutat on August 01, 2006
Horror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease (*). Annu Rev Immunol (2009) 5.91
Exome sequencing identifies MVK mutations in disseminated superficial actinic porokeratosis. Nat Genet (2012) 1.12
Birth prevalence of homocystinuria in Central Europe: frequency and pathogenicity of mutation c.1105C>T (p.R369C) in the cystathionine beta-synthase gene. J Pediatr (2008) 1.08
Deletion of a single mevalonate kinase (Mvk) allele yields a murine model of hyper-IgD syndrome. J Inherit Metab Dis (2007) 0.98
Hyperimmunoglobulinemia D and periodic fever syndrome; treatment with etanercept and follow-up. Clin Rheumatol (2008) 0.90
Coenzyme Q(10) is decreased in fibroblasts of patients with methylmalonic aciduria but not in mevalonic aciduria. J Inherit Metab Dis (2009) 0.84
11-Month-Old Infant With Periodic Fevers, Recurrent Liver Dysfunction, and Perforin Gene Polymorphism. Arthritis Care Res (Hoboken) (2015) 0.80
Mevalonate kinase deficiency: current perspectives. Appl Clin Genet (2016) 0.80
Natural history of mevalonate kinase deficiency: a literature review. Pediatr Rheumatol Online J (2016) 0.78
Intermittent neutropenia as an early feature of mild mevalonate kinase deficiency. J Clin Immunol (2013) 0.78
Inborn errors of metabolism underlying primary immunodeficiencies. J Clin Immunol (2014) 0.77
Mevalonate kinase deficiency leads to decreased prenylation of Rab GTPases. Immunol Cell Biol (2016) 0.77
Hereditary autoinflammatory syndromes: a Brazilian multicenter study. J Clin Immunol (2012) 0.77
Observational Study of a French and Belgian Multicenter Cohort of 23 Patients Diagnosed in Adulthood With Mevalonate Kinase Deficiency. Medicine (Baltimore) (2016) 0.76
Long chain fatty acid (Lcfa) abnormalities in hyper Igd syndrome (Hids) and Familial Mediterranean Fever (Fmf): new insight into heritable periodic fevers. Mol Genet Metab (2013) 0.75
Skin symptoms as diagnostic clue for autoinflammatory diseases. An Bras Dermatol (2017) 0.75
Effects of Anakinra on Health-Related Quality of Life in a Patient with 1129G>A/928G>A Mutations in MVK Gene and Heterozygosity for the Mutation 2107C>A in CIAS1 Gene. Front Pediatr (2017) 0.75
Mutational profile of rare variants in inflammasome-related genes in Behçet disease: A Next Generation Sequencing approach. Sci Rep (2017) 0.75
A lethal defect of mitochondrial and peroxisomal fission. N Engl J Med (2007) 5.27
Biochemistry of mammalian peroxisomes revisited. Annu Rev Biochem (2006) 3.59
Sodium taurocholate cotransporting polypeptide (SLC10A1) deficiency: conjugated hypercholanemia without a clear clinical phenotype. Hepatology (2014) 2.19
Clinical, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme A dehydrogenase deficiency. JAMA (2006) 2.11
Functions and biosynthesis of plasmalogens in health and disease. Biochim Biophys Acta (2004) 2.04
Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment. J Inherit Metab Dis (2010) 1.68
Long-chain fatty acid oxidation during early human development. Pediatr Res (2005) 1.62
A role for geranylgeranylation in interleukin-1beta secretion. Arthritis Rheum (2006) 1.62
HMG-CoA reductase inhibition induces IL-1beta release through Rac1/PI3K/PKB-dependent caspase-1 activation. Blood (2008) 1.54
The human peroxisomal ABC half transporter ALDP functions as a homodimer and accepts acyl-CoA esters. FASEB J (2008) 1.51
Peroxisomal disorders: the single peroxisomal enzyme deficiencies. Biochim Biophys Acta (2006) 1.51
Proteomics characterization of mouse kidney peroxisomes by tandem mass spectrometry and protein correlation profiling. Mol Cell Proteomics (2007) 1.41
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
The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives. Orphanet J Rare Dis (2012) 1.37
Lack of isoprenoid products raises ex vivo interleukin-1beta secretion in hyperimmunoglobulinemia D and periodic fever syndrome. Arthritis Rheum (2002) 1.30
The enzymology of mitochondrial fatty acid beta-oxidation and its application to follow-up analysis of positive neonatal screening results. J Inherit Metab Dis (2010) 1.29
Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. Hum Mutat (2011) 1.23
Statin synergizes with LPS to induce IL-1beta release by THP-1 cells through activation of caspase-1. Mol Immunol (2008) 1.22
Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis. Am J Hum Genet (2005) 1.22
Clinical implications of mutation analysis in primary hyperoxaluria type 1. Kidney Int (2004) 1.21
Molecular basis of Refsum disease: sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7). Hum Mutat (2004) 1.18
Mutations in PEX10 are a cause of autosomal recessive ataxia. Ann Neurol (2010) 1.18
A novel defect of peroxisome division due to a homozygous non-sense mutation in the PEX11β gene. J Med Genet (2012) 1.17
The natural history of medium-chain acyl CoA dehydrogenase deficiency in the Netherlands: clinical presentation and outcome. J Pediatr (2006) 1.17
Identification of PEX7 as the second gene involved in Refsum disease. Am J Hum Genet (2003) 1.17
Metabolite transport across the peroxisomal membrane. Biochem J (2007) 1.16
Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene. J Med Genet (2010) 1.16
The peroxisomal lumen in Saccharomyces cerevisiae is alkaline. J Cell Sci (2004) 1.11
Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients. Am J Med Genet A (2004) 1.11
Identification of the human mitochondrial FAD transporter and its potential role in multiple acyl-CoA dehydrogenase deficiency. Mol Genet Metab (2005) 1.11
Temperature dependence of mutant mevalonate kinase activity as a pathogenic factor in hyper-IgD and periodic fever syndrome. Hum Mol Genet (2002) 1.09
Novel metabolic and molecular findings in hepatic carnitine palmitoyltransferase I deficiency. Mol Genet Metab (2005) 1.08
Mevalonate kinase deficiency: enlarging the clinical and biochemical spectrum. Pediatrics (2003) 1.07
A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents. Am J Hum Genet (2002) 1.07
Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene. Orphanet J Rare Dis (2011) 1.06
The peroxisomal ABC transporter family. Pflugers Arch (2006) 1.05
Succinyl-CoA ligase deficiency: a mitochondrial hepatoencephalomyopathy. Pediatr Res (2010) 1.05
HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase. Orphanet J Rare Dis (2013) 1.03
Short-chain Acyl-CoA dehydrogenase deficiency: studies in a large family adding to the complexity of the disorder. Pediatrics (2003) 1.02
Novel disease-causing mutations in the dihydropyrimidine dehydrogenase gene interpreted by analysis of the three-dimensional protein structure. Biochem J (2002) 1.02
Differential substrate specificities of human ABCD1 and ABCD2 in peroxisomal fatty acid β-oxidation. Biochim Biophys Acta (2010) 1.01
Carrier frequency of the V377I (1129G>A) MVK mutation, associated with Hyper-IgD and periodic fever syndrome, in the Netherlands. Eur J Hum Genet (2003) 1.01
Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1. Am J Hum Genet (2002) 1.00
Plasmalogens participate in very-long-chain fatty acid-induced pathology. Brain (2008) 0.99
Alkyl-glycerol rescues plasmalogen levels and pathology of ether-phospholipid deficient mice. PLoS One (2011) 0.97
Impaired neuronal migration and endochondral ossification in Pex7 knockout mice: a model for rhizomelic chondrodysplasia punctata. Hum Mol Genet (2003) 0.96
Diagnostics and therapeutic insights in a severe case of mevalonate kinase deficiency. Pediatrics (2007) 0.96
A patient with hyper-IgD syndrome responding to anti-TNF treatment. Clin Rheumatol (2006) 0.95
Identification of novel mutations in classical galactosemia. Hum Mutat (2005) 0.95
Pathologic, radiographic and molecular findings in three fetuses diagnosed with HEM/Greenberg skeletal dysplasia. Prenat Diagn (2008) 0.94
Clinical, biochemical, and mutational spectrum of peroxisomal acyl-coenzyme A oxidase deficiency. Hum Mutat (2007) 0.94
Identification of the molecular defect in patients with peroxisomal mosaicism using a novel method involving culturing of cells at 40 degrees C: implications for other inborn errors of metabolism. Hum Mutat (2004) 0.94
The proteome of human liver peroxisomes: identification of five new peroxisomal constituents by a label-free quantitative proteomics survey. PLoS One (2013) 0.94
Desmosterolosis-phenotypic and molecular characterization of a third case and review of the literature. Am J Med Genet A (2011) 0.91
The difference between observed and expected prevalence of MCAD deficiency in The Netherlands: a genetic epidemiological study. Eur J Hum Genet (2005) 0.91
Isolated mitochondrial long-chain ketoacyl-CoA thiolase deficiency resulting from mutations in the HADHB gene. Clin Chem (2006) 0.91
Sjögren-Larsson syndrome in clinical practice. J Inherit Metab Dis (2012) 0.91
Adult peroxisomal acyl-coenzyme A oxidase deficiency with cerebellar and brainstem atrophy. J Neurol Neurosurg Psychiatry (2010) 0.90
Peroxisomal fatty acid uptake mechanism in Saccharomyces cerevisiae. J Biol Chem (2012) 0.90
Hyperimmunoglobulinemia D and periodic fever syndrome; treatment with etanercept and follow-up. Clin Rheumatol (2008) 0.90
Detection of nonsterol isoprenoids by HPLC-MS/MS. Anal Biochem (2008) 0.89
Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients. Hum Mutat (2010) 0.88
Diosgenin-induced biliary cholesterol secretion in mice requires Abcg8. Hepatology (2005) 0.88
Identification of PEX7 as the second gene involved in Refsum disease. Adv Exp Med Biol (2003) 0.88
Regulation of isoprenoid/cholesterol biosynthesis in cells from mevalonate kinase-deficient patients. J Biol Chem (2002) 0.88
Arginine improves peroxisome functioning in cells from patients with a mild peroxisome biogenesis disorder. Orphanet J Rare Dis (2013) 0.87
Substrate specificity of human carnitine acetyltransferase: Implications for fatty acid and branched-chain amino acid metabolism. Biochim Biophys Acta (2013) 0.87
A new coding system for metabolic disorders demonstrates gaps in the international disease classifications ICD-10 and SNOMED-CT, which can be barriers to genotype-phenotype data sharing. Hum Mutat (2013) 0.86
Novel mutations in the PEX2 gene of four unrelated patients with a peroxisome biogenesis disorder. Pediatr Res (2003) 0.86
Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study. Orphanet J Rare Dis (2012) 0.85
Fasting and fat-loading tests provide pathophysiological insight into short-chain acyl-coenzyme a dehydrogenase deficiency. J Pediatr (2010) 0.85
Mevalonate kinase is a cytosolic enzyme in humans. J Cell Sci (2004) 0.85
Absence of functional peroxisomes does not lead to deficiency of enzymes involved in cholesterol biosynthesis. J Lipid Res (2002) 0.85
Phosphomevalonate kinase is a cytosolic protein in humans. J Lipid Res (2004) 0.85
Pelger-huet anomaly and a mild skeletal phenotype secondary to mutations in LBR. Am J Med Genet A (2013) 0.85
Manipulation of isoprenoid biosynthesis as a possible therapeutic option in mevalonate kinase deficiency. Arthritis Rheum (2006) 0.85
A mutation in PEX19 causes a severe clinical phenotype in a patient with peroxisomal biogenesis disorder. Am J Med Genet A (2010) 0.84
Genotype-phenotype correlation in PEX5-deficient peroxisome biogenesis defective cell lines. Hum Mutat (2009) 0.84
Flavin adenine dinucleotide status and the effects of high-dose riboflavin treatment in short-chain acyl-CoA dehydrogenase deficiency. Pediatr Res (2010) 0.84
Defective lipid remodeling of GPI anchors in peroxisomal disorders, Zellweger syndrome, and rhizomelic chondrodysplasia punctata. J Lipid Res (2012) 0.83
Peroxisomes contribute to the acylcarnitine production when the carnitine shuttle is deficient. Biochim Biophys Acta (2013) 0.83
Metabolic functions and biogenesis of peroxisomes in health and disease. Biochim Biophys Acta (2012) 0.83
Human mevalonate pyrophosphate decarboxylase is localized in the cytosol. Mol Genet Metab (2004) 0.83
Novel mutations in the PEX12 gene of patients with a peroxisome biogenesis disorder. Eur J Hum Genet (2004) 0.82
Identification of three patients with a very mild form of Smith-Lemli-Opitz syndrome. Am J Med Genet A (2003) 0.82
Primary hyperoxaluria type 1 with a novel mutation. Indian J Pediatr (2008) 0.81
Typical cMRI pattern as diagnostic clue for D-bifunctional protein deficiency without apparent biochemical abnormalities in plasma. Am J Med Genet A (2010) 0.81
X-linked adrenomyeloneuropathy due to a novel missense mutation in the ABCD1 start codon presenting as demyelinating neuropathy. J Peripher Nerv Syst (2011) 0.80