Published in Ann Intern Med on March 15, 2005
Evidence-based Assessment of Medication Sensitivity in Acute Hepatic Porphyria | NCT03906214
Low-dose hydroxychloroquine is as effective as phlebotomy in treatment of patients with porphyria cutanea tarda. Clin Gastroenterol Hepatol (2012) 1.47
One ring to rule them all: trafficking of heme and heme synthesis intermediates in the metazoans. Biochim Biophys Acta (2012) 1.46
The porphyrias: advances in diagnosis and treatment. Blood (2012) 1.34
Hemin-activated macrophages home to the pancreas and protect from acute pancreatitis via heme oxygenase-1 induction. J Clin Invest (2005) 1.31
Clinically important features of porphyrin and heme metabolism and the porphyrias. Metabolites (2014) 1.19
Carbon monoxide reverses diabetic gastroparesis in NOD mice. Am J Physiol Gastrointest Liver Physiol (2010) 1.11
First-in-human study demonstrating pharmacological activation of heme oxygenase-1 in humans. Clin Pharmacol Ther (2009) 1.10
A 22-year-old woman with abdominal pain. J Gen Intern Med (2014) 1.02
Lon peptidase 1 (LONP1)-dependent breakdown of mitochondrial 5-aminolevulinic acid synthase protein by heme in human liver cells. J Biol Chem (2011) 0.99
Pharmacological induction of neuroglobin expression. Pharmacology (2011) 0.97
Liver transplantation for acute intermittent porphyria is complicated by a high rate of hepatic artery thrombosis. Liver Transpl (2012) 0.97
Liver transplantation in the management of porphyria. Hepatology (2014) 0.97
RNAi-mediated silencing of hepatic Alas1 effectively prevents and treats the induced acute attacks in acute intermittent porphyria mice. Proc Natl Acad Sci U S A (2014) 0.95
montalcino, A zebrafish model for variegate porphyria. Exp Hematol (2008) 0.95
Erythroid heme biosynthesis and its disorders. Cold Spring Harb Perspect Med (2013) 0.95
An update of clinical management of acute intermittent porphyria. Appl Clin Genet (2015) 0.94
Acute porphyrias in the USA: features of 108 subjects from porphyrias consortium. Am J Med (2014) 0.93
Sustained enzymatic correction by rAAV-mediated liver gene therapy protects against induced motor neuropathy in acute porphyria mice. Mol Ther (2010) 0.93
Dominant versus recessive: molecular mechanisms in metabolic disease. J Inherit Metab Dis (2008) 0.92
Cytochrome P450 regulation: the interplay between its heme and apoprotein moieties in synthesis, assembly, repair, and disposal. Drug Metab Rev (2010) 0.90
Liver Transplantation because of Acute Liver Failure due to Heme Arginate Overdose in a Patient with Acute Intermittent Porphyria. Case Rep Gastroenterol (2012) 0.88
Impaired dexamethasone-mediated induction of tryptophan 2,3-dioxygenase in heme-deficient rat hepatocytes: translational control by a hepatic eIF2alpha kinase, the heme-regulated inhibitor. J Pharmacol Exp Ther (2007) 0.88
Systemic hemin therapy attenuates blood-brain barrier disruption after intracerebral hemorrhage. Neurobiol Dis (2014) 0.87
Heme oxygenase-1 is induced in peripheral blood mononuclear cells of patients with acute pancreatitis: a potential therapeutic target. Am J Physiol Gastrointest Liver Physiol (2010) 0.86
Guide to drug porphyrogenicity prediction and drug prescription in the acute porphyrias. Br J Clin Pharmacol (2007) 0.85
Targeting heme oxygenase after intracerebral hemorrhage. Ther Targets Neurol Dis (2015) 0.84
Renal failure affects the enzymatic activities of the three first steps in hepatic heme biosynthesis in the acute intermittent porphyria mouse. PLoS One (2012) 0.84
Acute intermittent porphyria associated with respiratory failure: a multidisciplinary approach. Crit Care Res Pract (2011) 0.83
Electroencephalography of encephalopathy in patients with endocrine and metabolic disorders. J Clin Neurophysiol (2013) 0.83
Feigning acute intermittent porphyria. Case Rep Psychiatry (2014) 0.82
Circadian rhythms in acute intermittent porphyria--a pilot study. Eur J Clin Invest (2013) 0.82
A LC-MS/MS method for the specific, sensitive, and simultaneous quantification of 5-aminolevulinic acid and porphobilinogen. J Chromatogr B Analyt Technol Biomed Life Sci (2011) 0.82
Marked geographic aggregation of acute intermittent porphyria families carrying mutation Q180X in Venezuelan populations, with description of further mutations. J Inherit Metab Dis (2010) 0.82
Heme acts through the Bach1b/Nrf2a-MafK pathway to regulate exocrine peptidase precursor genes in porphyric zebrafish. Dis Model Mech (2014) 0.81
Role of delta-aminolevulinic acid in the symptoms of acute porphyria. Am J Med (2014) 0.80
Preclinical Development of a Subcutaneous ALAS1 RNAi Therapeutic for Treatment of Hepatic Porphyrias Using Circulating RNA Quantification. Mol Ther Nucleic Acids (2015) 0.80
High prevalence of and potential mechanisms for chronic kidney disease in patients with acute intermittent porphyria. Kidney Int (2015) 0.80
Urinary porphyrin excretion in normal children and adolescents. Clin Chim Acta (2009) 0.80
Schizoaffective disorder with missed diagnosis of acute porphyria: a case report and overview. Prim Care Companion CNS Disord (2011) 0.80
Hepatic heme-regulated inhibitor (HRI) eukaryotic initiation factor 2alpha kinase: a protagonist of heme-mediated translational control of CYP2B enzymes and a modulator of basal endoplasmic reticulum stress tone. Mol Pharmacol (2010) 0.80
Genetic and biochemical characterization of 16 acute intermittent porphyria cases with a high prevalence of the R173W mutation. J Inherit Metab Dis (2006) 0.80
Acute Hepatic Porphyria. J Clin Transl Hepatol (2015) 0.80
Acute intermittent porphyria caused by novel mutation in HMBS gene, misdiagnosed as cholecystitis. Neuropsychiatr Dis Treat (2014) 0.79
A retrospective analysis of outcome of pregnancy in patients with acute porphyria. J Inherit Metab Dis (2010) 0.78
Liver Fibrosis Associated with Iron Accumulation Due to Long-Term Heme-Arginate Treatment in Acute Intermittent Porphyria: A Case Series. JIMD Rep (2015) 0.78
Paralytic ileus and liver failure--an unusual presentation of advanced erythropoietic protoporphyria. Dig Dis Sci (2008) 0.76
Neuroglobin, a Factor Playing for Nerve Cell Survival. Int J Mol Sci (2016) 0.76
Effects of hemin on heme oxygenase-1, gastric emptying, and symptoms in diabetic gastroparesis. Neurogastroenterol Motil (2016) 0.76
Cardiac calcification in acute intermittent porphyria. Ann Pediatr Cardiol (2011) 0.75
Acute Intermittent Porphyria in children: A case report and review of the literature. Mol Genet Metab (2016) 0.75
Clinical and Laboratory Features of Acute Porphyria: A Study of 36 Subjects in a Chinese Tertiary Referral Center. Biomed Res Int (2016) 0.75
Association between red meat consumption and colon cancer: A systematic review of experimental results. Exp Biol Med (Maywood) (2017) 0.75
Acute intermittent porphyria presenting with posterior reversible encephalopathy syndrome and lateralized periodic discharges plus fast activity on EEG. Epilepsy Behav Case Rep (2016) 0.75
A case of variegate porphyria in association with coeliac disease and bisphosphonate associated dental osteonecrosis. J Clin Med Res (2009) 0.75
Porphyria Diagnostics-Part 1: A Brief Overview of the Porphyrias. Curr Protoc Hum Genet (2015) 0.75
Neuropathic pain in hereditary coproporphyria. Pak J Med Sci (2013) 0.75
Anesthetic implication of tricuspid valve replacement in a patient with acute intermittent porphyria. Ann Card Anaesth (2016) 0.75
Heme deficiency in Alzheimer's disease: a possible connection to porphyria. J Biomed Biotechnol (2006) 0.75
Acute porphyria in a patient with Arnold Chiari malformation. Am J Case Rep (2015) 0.75
An elusive case of acute abdomen. Med J Armed Forces India (2011) 0.75
A method for determining δ-aminolevulinic acid synthase activity in homogenized cells and tissues. Clin Biochem (2015) 0.75
Acute intermittent porphyria: a test of clinical acumen. J Community Hosp Intern Med Perspect (2017) 0.75
Helper-dependent adenovirus achieve more efficient and persistent liver transgene expression in non-human primates under immunosuppression. Gene Ther (2015) 0.75
Experiences and concerns of patients with recurrent attacks of acute hepatic porphyria: A qualitative study. Mol Genet Metab (2016) 0.75
Plasma heme-induced renal toxicity is related to a capillary rarefaction. Sci Rep (2017) 0.75
A Commonly Missed Well Known Entity- Acute Intermittent Porphyria: A Case Report. J Clin Diagn Res (2016) 0.75
Acute porphyria presenting as epilepsia partialis continua. Case Rep Neurol (2013) 0.75
Liver transplantation for pediatric inherited metabolic disorders: Considerations for indications, complications, and perioperative management. Pediatr Transplant (2016) 0.75
Heme status affects human hepatic messenger RNA and microRNA expression. World J Gastroenterol (2013) 0.75
Acute Hepatic Porphyrias: Recommendations for Evaluation and Long Term Management. Hepatology (2017) 0.75
Emergency Neurological Life Support: Acute Non-traumatic Weakness. Neurocrit Care (2017) 0.75
Acute intermittent porphyria after right hemi-colectomy. Int J Surg Case Rep (2017) 0.75
A mouse model of hereditary coproporphyria identified in an ENU mutagenesis screen. Dis Model Mech (2017) 0.75
Prolonged therapy of advanced chronic hepatitis C with low-dose peginterferon. N Engl J Med (2008) 9.33
A pharmacogenetic versus a clinical algorithm for warfarin dosing. N Engl J Med (2013) 7.09
A variant upstream of IFNL3 (IL28B) creating a new interferon gene IFNL4 is associated with impaired clearance of hepatitis C virus. Nat Genet (2013) 6.19
Incidence of hepatocellular carcinoma and associated risk factors in hepatitis C-related advanced liver disease. Gastroenterology (2008) 6.15
Causes, clinical features, and outcomes from a prospective study of drug-induced liver injury in the United States. Gastroenterology (2008) 5.45
Des-gamma-carboxy prothrombin and alpha-fetoprotein as biomarkers for the early detection of hepatocellular carcinoma. Gastroenterology (2009) 4.90
Peginterferon alfa-2a and ribavirin in patients with chronic hepatitis C who have failed prior treatment. Gastroenterology (2004) 4.27
High incidence of later-onset fabry disease revealed by newborn screening. Am J Hum Genet (2006) 3.78
Coffee intake is associated with lower rates of liver disease progression in chronic hepatitis C. Hepatology (2009) 3.50
Drug-Induced Liver Injury Network (DILIN) prospective study: rationale, design and conduct. Drug Saf (2009) 3.48
Evolution of the HALT-C Trial: pegylated interferon as maintenance therapy for chronic hepatitis C in previous interferon nonresponders. Control Clin Trials (2004) 3.46
Agalsidase-beta therapy for advanced Fabry disease: a randomized trial. Ann Intern Med (2006) 3.38
Vascular endothelium as a contributor of plasma sphingosine 1-phosphate. Circ Res (2008) 3.36
Outcome of sustained virological responders with histologically advanced chronic hepatitis C. Hepatology (2010) 3.35
Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel. Genet Med (2004) 3.32
Genetic variants associated with warfarin dose in African-American individuals: a genome-wide association study. Lancet (2013) 3.21
Complication rate of percutaneous liver biopsies among persons with advanced chronic liver disease in the HALT-C trial. Clin Gastroenterol Hepatol (2010) 2.96
Fabry disease: detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype. Kidney Int (2003) 2.94
Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease. J Am Soc Nephrol (2007) 2.73
Serum alpha-fetoprotein levels in patients with advanced hepatitis C: results from the HALT-C Trial. J Hepatol (2005) 2.63
Inhibitory effects of microRNA 19b in hepatic stellate cell-mediated fibrogenesis. Hepatology (2012) 2.61
Long-term safety and efficacy of enzyme replacement therapy for Fabry disease. Am J Hum Genet (2004) 2.60
Maintenance peginterferon therapy and other factors associated with hepatocellular carcinoma in patients with advanced hepatitis C. Gastroenterology (2010) 2.47
Herbal product use by persons enrolled in the hepatitis C Antiviral Long-Term Treatment Against Cirrhosis (HALT-C) Trial. Hepatology (2008) 2.44
Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases. Hum Mutat (2010) 2.29
Retracted The hepcidin-binding site on ferroportin is evolutionarily conserved. Cell Metab (2008) 2.25
Biosynthesis of heme in mammals. Biochim Biophys Acta (2006) 2.25
Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy. Nephrol Dial Transplant (2009) 2.17
Role of Bach1 and Nrf2 in up-regulation of the heme oxygenase-1 gene by cobalt protoporphyrin. FASEB J (2006) 2.16
Maintaining iron balance in women blood donors of childbearing age: summary of a workshop. Transfusion (2002) 2.15
Globotriaosylceramide accumulation in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapy. Kidney Int (2002) 2.15
Hepatitis C, porphyria cutanea tarda and liver iron: an update. Liver Int (2012) 2.10
Impact of disease severity on outcome of antiviral therapy for chronic hepatitis C: Lessons from the HALT-C trial. Hepatology (2006) 2.06
Relationship of serum fibrosis markers with liver fibrosis stage and collagen content in patients with advanced chronic hepatitis C. Hepatology (2008) 2.02
Warfarin pharmacogenetics: CYP2C9 and VKORC1 genotypes predict different sensitivity and resistance frequencies in the Ashkenazi and Sephardi Jewish populations. Am J Hum Genet (2008) 1.99
Hepatotoxicity associated with supplements containing Chinese green tea (Camellia sinensis). Ann Intern Med (2006) 1.95
Predicting cirrhosis in patients with hepatitis C based on standard laboratory tests: results of the HALT-C cohort. Hepatology (2005) 1.93
Liver injury from herbals and dietary supplements in the U.S. Drug-Induced Liver Injury Network. Hepatology (2014) 1.83
Combined CYP2C9, VKORC1 and CYP4F2 frequencies among racial and ethnic groups. Pharmacogenomics (2010) 1.82
Hepatic histological findings in suspected drug-induced liver injury: systematic evaluation and clinical associations. Hepatology (2013) 1.81
Weight-related effects on disease progression in the hepatitis C antiviral long-term treatment against cirrhosis trial. Gastroenterology (2009) 1.80
Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A). Hum Mutat (2009) 1.78
Serum fibrosis markers are associated with liver disease progression in non-responder patients with chronic hepatitis C. Gut (2010) 1.78
Impact of reducing peginterferon alfa-2a and ribavirin dose during retreatment in patients with chronic hepatitis C. Gastroenterology (2006) 1.76
Liver transplantation for erythropoietic protoporphyria liver disease. Liver Transpl (2005) 1.76
The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations. Am J Hum Genet (2002) 1.74
Contemporary clinical research of traditional Chinese medicines for chronic hepatitis B in China: an analytical review. Hepatology (2010) 1.71
DNA polymorphisms and response to treatment in patients with chronic hepatitis C: results from the HALT-C trial. J Hepatol (2008) 1.71
Hepatic steatosis in hepatitis C: comparison of diabetic and nondiabetic patients in the hepatitis C antiviral long-term treatment against cirrhosis trial. Clin Gastroenterol Hepatol (2007) 1.71
Clinical consequences of iron overload in hemochromatosis homozygotes. Blood (2003) 1.65
Hepcidin mediates transcriptional changes that modulate acute cytokine-induced inflammatory responses in mice. J Clin Invest (2010) 1.64
Cholesteryl ester storage disease: review of the findings in 135 reported patients with an underdiagnosed disease. J Hepatol (2013) 1.60
Hereditary hemochromatosis: time for targeted screening. Ann Intern Med (2008) 1.60
Reciprocal effects of micro-RNA-122 on expression of heme oxygenase-1 and hepatitis C virus genes in human hepatocytes. Gastroenterology (2007) 1.59
Acute intermittent porphyria: studies of the severe homozygous dominant disease provides insights into the neurologic attacks in acute porphyrias. Arch Neurol (2004) 1.58
A method for detecting recent selection in the human genome from allele age estimates. Genetics (2003) 1.55
AAV2 vector harboring a liver-restricted promoter facilitates sustained expression of therapeutic levels of alpha-galactosidase A and the induction of immune tolerance in Fabry mice. Mol Ther (2004) 1.55
A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci. PLoS Genet (2012) 1.52
Premarital and prenatal screening for cystic fibrosis: experience in the Ashkenazi Jewish population. Genet Med (2004) 1.52
Correction of the biochemical and functional deficits in fabry mice following AAV8-mediated hepatic expression of alpha-galactosidase A. Mol Ther (2006) 1.46
Fabry disease: D313Y is an alpha-galactosidase A sequence variant that causes pseudodeficient activity in plasma. Mol Genet Metab (2003) 1.44
Fabry disease: characterization of alpha-galactosidase A double mutations and the D313Y plasma enzyme pseudodeficiency allele. Hum Mutat (2003) 1.42
Oxidative stress, beta-cell apoptosis, and decreased insulin secretory capacity in mouse models of hemochromatosis. Endocrinology (2004) 1.41
MicroRNA-196 represses Bach1 protein and hepatitis C virus gene expression in human hepatoma cells expressing hepatitis C viral proteins. Hepatology (2010) 1.38
A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome. N Engl J Med (2003) 1.38
Gene expression patterns that correlate with hepatitis C and early progression to fibrosis in liver transplant recipients. Gastroenterology (2006) 1.38
CYP2C9*8 is prevalent among African-Americans: implications for pharmacogenetic dosing. Pharmacogenomics (2009) 1.37
Drug-induced liver injury associated with statins. Semin Liver Dis (2009) 1.36
A porphomethene inhibitor of uroporphyrinogen decarboxylase causes porphyria cutanea tarda. Proc Natl Acad Sci U S A (2007) 1.35
Fabry disease: identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations. Hum Genomics (2006) 1.35
Predicting clinical and histologic outcomes based on standard laboratory tests in advanced chronic hepatitis C. Gastroenterology (2009) 1.35
The porphyrias: advances in diagnosis and treatment. Blood (2012) 1.34
A prospective study of the rate of progression in compensated, histologically advanced chronic hepatitis C. Hepatology (2011) 1.33
Alternative splicing in the alpha-galactosidase A gene: increased exon inclusion results in the Fabry cardiac phenotype. Am J Hum Genet (2002) 1.32
Catechins in dietary supplements and hepatotoxicity. Dig Dis Sci (2013) 1.31
Structural basis for tetrapyrrole coordination by uroporphyrinogen decarboxylase. EMBO J (2003) 1.31
Acid sphingomyelinase deficiency: prevalence and characterization of an intermediate phenotype of Niemann-Pick disease. J Pediatr (2006) 1.30
Racial differences in hepatitis C treatment eligibility. Hepatology (2011) 1.28
Detection of low-level mosaicism and placental mosaicism by oligonucleotide array comparative genomic hybridization. Genet Med (2010) 1.27
The natural history of type B Niemann-Pick disease: results from a 10-year longitudinal study. Pediatrics (2004) 1.25
Type 1 Gaucher disease: significant disease manifestations in "asymptomatic" homozygotes. Arch Intern Med (2010) 1.25
Iron in nonhemochromatotic liver disorders. Semin Liver Dis (2005) 1.25
A prospective, cross-sectional survey study of the natural history of Niemann-Pick disease type B. Pediatrics (2008) 1.23
Role of Bach-1 in regulation of heme oxygenase-1 in human liver cells: insights from studies with small interfering RNAS. J Biol Chem (2004) 1.22
Lipid abnormalities in children with types A and B Niemann Pick disease. J Pediatr (2004) 1.22
Serum measures of iron status and HFE gene mutations in patients with hepatitis B virus infection. Hepatol Res (2007) 1.20
Hepatitis C virus-specific immune responses and quasi-species variability at baseline are associated with nonresponse to antiviral therapy during advanced hepatitis C. J Infect Dis (2006) 1.19
Spectrum of statin hepatotoxicity: experience of the drug-induced liver injury network. Hepatology (2014) 1.19
The pharmacological chaperone 1-deoxygalactonojirimycin reduces tissue globotriaosylceramide levels in a mouse model of Fabry disease. Mol Ther (2009) 1.18
Evolution of hepatic steatosis in patients with advanced hepatitis C: results from the hepatitis C antiviral long-term treatment against cirrhosis (HALT-C) trial. Hepatology (2009) 1.18
Crohn disease: frequency and nature of CARD15 mutations in Ashkenazi and Sephardi/Oriental Jewish families. Am J Hum Genet (2004) 1.17
Congenital erythropoietic porphyria due to a mutation in GATA1: the first trans-acting mutation causative for a human porphyria. Blood (2006) 1.16
Homozygous nonsense mutations in TWIST2 cause Setleis syndrome. Am J Hum Genet (2010) 1.15
microRNAs: fad or future of liver disease. World J Gastroenterol (2011) 1.15
Cystic fibrosis carrier screening: issues in implementation. Genet Med (2003) 1.14
HCV RNA detection by TMA during the hepatitis C antiviral long-term treatment against cirrhosis (Halt-C) trial. Hepatology (2006) 1.13
Zebrafish as a model for defining the functional impact of mammalian ferroportin mutations. Blood (2007) 1.13
Prognostic value of Ishak fibrosis stage: findings from the hepatitis C antiviral long-term treatment against cirrhosis trial. Hepatology (2010) 1.12