Published in Hum Mutat on April 01, 2010
N-carbamylglutamate enhancement of ureagenesis leads to discovery of a novel deleterious mutation in a newly defined enhancer of the NAGS gene and to effective therapy. Hum Mutat (2011) 0.82
Characterization of the human ornithine transcarbamylase 3' untranslated regulatory region. DNA Cell Biol (2011) 0.77
Transcriptional regulation of N-acetylglutamate synthase. PLoS One (2012) 0.76
Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver. J Clin Invest (2012) 2.33
Gilbert syndrome and ischemic heart disease: a protective effect of elevated bilirubin levels. Atherosclerosis (2002) 2.26
Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families. Gastroenterology (2008) 1.95
Relation between hepatic expression of ATP-binding cassette transporters G5 and G8 and biliary cholesterol secretion in mice. J Hepatol (2003) 1.61
Relationship between X-inactivation and clinical involvement in Fabry heterozygotes. Eleven novel mutations in the alpha-galactosidase A gene in the Czech and Slovak population. J Mol Med (Berl) (2005) 1.55
Force majeure: therapeutic measures in response to restricted supply of imiglucerase (Cerezyme) for patients with Gaucher disease. Blood Cells Mol Dis (2009) 1.54
Urinary and fecal immunoglobulin A, cortisol and 11-17 dioxoandrostanes, and serum cortisol in metabolic cage housed female cynomolgus monkeys (Macaca fascicularis). J Med Primatol (2007) 1.42
Clinical spectrum in CADASIL family with a new mutation. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub (2013) 1.10
5-aminolaevulinic acid-induced fluorescence cystoscopy during transurethral resection reduces the risk of recurrence in stage Ta/T1 bladder cancer. BJU Int (2005) 1.09
Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. Brain (2009) 1.08
Troy, a tumor necrosis factor receptor family member, interacts with lgr5 to inhibit wnt signaling in intestinal stem cells. Gastroenterology (2012) 1.04
X-chromosome inactivation: molecular mechanisms from the human perspective. Hum Genet (2011) 1.03
Dual hereditary jaundice: simultaneous occurrence of mutations causing Gilbert's and Dubin-Johnson syndrome. Gastroenterology (2005) 0.97
Highly sensitive method for quantitative determination of bilirubin in biological fluids and tissues. J Chromatogr B Analyt Technol Biomed Life Sci (2008) 0.92
Observational, retrospective study of a large cohort of patients with Niemann-Pick disease type C in the Czech Republic: a surprisingly stable diagnostic rate spanning almost 40 years. Orphanet J Rare Dis (2014) 0.90
Novel ABCB11 mutations in a Thai infant with progressive familial intrahepatic cholestasis. World J Gastroenterol (2009) 0.90
Histone methyltransferase DOT1L drives recovery of gene expression after a genotoxic attack. PLoS Genet (2013) 0.88
Mucopolysaccharidosis type I in 21 Czech and Slovak patients: mutation analysis suggests a functional importance of C-terminus of the IDUA protein. Am J Med Genet A (2009) 0.87
New insights in bilirubin metabolism and their clinical implications. World J Gastroenterol (2013) 0.85
Soluble cytokine receptors in renal vasculitis and lupus nephritis. Med Sci Monit (2002) 0.84
Treatment of cataplexy in Niemann-Pick disease type C with the use of miglustat. Eur J Paediatr Neurol (2010) 0.83
Genetic background of cholesterol gallstone disease. Biochim Biophys Acta (2003) 0.83
Prevalence of Fabry disease in male patients with unexplained left ventricular hypertrophy in primary cardiology practice: prospective Fabry cardiomyopathy screening study (FACSS). J Inherit Metab Dis (2013) 0.83
CYP7A1 promoter polymorphism -203A>C affects bile salt synthesis rate in patients after ileal resection. J Lipid Res (2008) 0.83
1H MR spectroscopy as a diagnostic tool for cerebral creatine deficiency. MAGMA (2008) 0.82
Iliopsoas hematoma in a young patient with type I Gaucher disease. Isr Med Assoc J (2003) 0.82
X chromosome inactivation: heterogeneity of heterochromatin. Biochem Cell Biol (2008) 0.81
Rotor-type hyperbilirubinaemia has no defect in the canalicular bilirubin export pump. Liver Int (2007) 0.80
Rapid and accurate denaturating high performance liquid chromatography protocol for the detection of alpha-l-iduronidase mutations causing mucopolysaccharidosis type I. Clin Chim Acta (2009) 0.79
Indel in the FIC1/ATP8B1 gene-a novel rare type of mutation associated with benign recurrent intrahepatic cholestasis. Hepatol Res (2004) 0.79
Mosaic tissue distribution of the tandem duplication of LAMP2 exons 4 and 5 demonstrates the limits of Danon disease cellular and molecular diagnostics. J Inherit Metab Dis (2013) 0.79
New polymorphic sites within ornithine transcarbamylase gene: population genetics studies and implications for diagnosis. Mol Genet Metab (2003) 0.79
Novel human pathological mutations. Gene symbol: ABCD1. Disease: X-linked adrenoleukodystrophy. Hum Genet (2010) 0.78
Assessment of placental and maternal stress responses in patients with pregnancy related complications via monitoring of heat shock protein mRNA levels. Mol Biol Rep (2014) 0.77
FMR1 gene expansion, large deletion of Xp, and skewed X-inactivation in a girl with mental retardation and autism. Am J Med Genet A (2010) 0.77
Revised King's College score for liver transplantation in adult patients with Wilson's disease. Liver Transpl (2007) 0.77
Investigation of substituted 6-aminohexanoates as skin penetration enhancers. Bioorg Med Chem (2011) 0.77
Genetic and clinical features of patients with Gaucher disease in Hungary. Blood Cells Mol Dis (2007) 0.76
Influence of losartan and enalapril on urinary excretion of 8-isoprostane in experimental nephrotic syndrome. Med Sci Monit (2002) 0.76
Treatment of pruritus with Prometheus dialysis and absorption system in a patient with benign recurrent intrahepatic cholestasis. Hepatol Res (2013) 0.76
N-acetyl cysteine averted liver transplantation in a patient with liver failure caused by erythropoietic protoporphyria. Liver Transpl (2009) 0.76
Linkage between A(TA)7TAA and -3279T>G mutations in UGT1A1 is not essential for pathogenesis of Gilbert syndrome. Liver Int (2006) 0.76
Fat mass and obesity-associated (fto) gene and alcohol intake. Addiction (2012) 0.76
Do common genetic variants in endotoxin signaling pathway contribute to predisposition to alcoholic liver cirrhosis? Clin Chem Lab Med (2009) 0.76
Glucocerebrosidase gene has an alternative upstream promoter, which has features and expression characteristic of housekeeping genes. Blood Cells Mol Dis (2011) 0.75
Serum bilirubin levels and UGT1A1 promoter variations in patients with schizophrenia. Psychiatry Res (2010) 0.75
ATP8B1 gene expression is driven by a housekeeping-like promoter independent of bile acids and farnesoid X receptor. PLoS One (2012) 0.75
Dubin-Johnson syndrome coinciding with colon cancer and atherosclerosis. World J Gastroenterol (2013) 0.75
Nasobiliary drainage in an episode of intrahepatic cholestasis in a child with mild ABCB11 disease. J Pediatr Gastroenterol Nutr (2012) 0.75
Novel human pathological mutations. Gene symbol: ABCD1. Disease: X-linked adrenoleukodystrophy. Hum Genet (2010) 0.75
Novel human pathological mutations. Gene symbol: ABCD1. Disease: X-linked adrenoleukodystrophy. Hum Genet (2010) 0.75
Investigating the activity of 2-substituted alkyl-6-(2,5-dioxopyrrolidin-1-yl)hexanoates as skin penetration enhancers. Bioorg Med Chem (2010) 0.75
Wilson disease as a cause of liver injury in cystic fibrosis. J Cyst Fibros (2008) 0.75
Experimental photodynamic therapy with MESO-tetrakisphenylporphyrin (TPP) in liposomes leads to disintegration of human amelanotic melanoma implanted to nude mice. Int J Cancer (2003) 0.75