MeSH term
Frequency | Condition_Probility | Humans | 324 | 0.0 |
Population Surveillance | 2 | 1.0 |
Aged | 71 | 0.0 |
Female | 182 | 0.0 |
Life Tables | 2 | 1.0 |
Male | 170 | 0.0 |
Middle Aged | 116 | 0.0 |
Research Support, Non-U.S. Gov't | 123 | 0.0 |
*Autoimmune Diseases | 2 | 28.0 |
Adult | 144 | 0.0 |
3T3 Cells | 2 | 0.0 |
Animals | 32 | 0.0 |
Blotting, Western | 2 | 0.0 |
Cloning, Molecular | 8 | 0.0 |
Gene Therapy/*methods | 2 | 0.0 |
Hela Cells | 4 | 0.0 |
Mice | 13 | 0.0 |
Mice, Inbred C57BL | 2 | 0.0 |
CHO Cells | 2 | 0.0 |
Hamsters | 2 | 0.0 |
Molecular Sequence Data | 33 | 0.0 |
Comparative Study | 22 | 0.0 |
Porphyria, Acute Intermittent/diagnosis/*enzymology/*genetics | 2 | 100.0 |
Brain Mapping | 5 | 3.0 |
Magnetic Resonance Imaging | 6 | 0.0 |
Movement/*physiology | 4 | 10.0 |
Adolescent | 50 | 0.0 |
DNA Mutational Analysis | 16 | 0.0 |
Electrophoresis, Polyacrylamide Gel | 7 | 0.0 |
Genetic Screening | 6 | 0.0 |
*Mutation | 27 | 0.0 |
Pedigree | 40 | 0.0 |
Porphyria, Acute Intermittent/diagnosis/epidemiology/*genetics | 2 | 100.0 |
Porphyrins/urine | 9 | 64.0 |
Biological Markers/blood | 5 | 0.0 |
English Abstract | 43 | 0.0 |
Exons/genetics | 5 | 0.0 |
Glucose/administration & dosage | 4 | 13.0 |
Infusions, Intravenous | 2 | 0.0 |
Introns/genetics | 2 | 0.0 |
Point Mutation | 6 | 0.0 |
Sequence Analysis, DNA | 8 | 0.0 |
Child | 21 | 0.0 |
Disease Progression | 5 | 0.0 |
Odds Ratio | 3 | 0.0 |
Orchiectomy | 2 | 1.0 |
Prostate-Specific Antigen/*blood | 2 | 2.0 |
Retrospective Studies | 12 | 0.0 |
Time Factors | 10 | 0.0 |
Brain/*pathology | 4 | 2.0 |
Diagnosis, Differential | 26 | 1.0 |
Hypertension/diagnosis | 2 | 28.0 |
*Magnetic Resonance Imaging | 3 | 1.0 |
Nitric Oxide/metabolism | 2 | 1.0 |
Porphyria, Acute Intermittent/complications/*diagnosis | 2 | 100.0 |
Seizures/etiology | 2 | 10.0 |
Syndrome | 3 | 0.0 |
Cell Line | 5 | 0.0 |
Research Support, U.S. Gov't, P.H.S. | 26 | 0.0 |
Cohort Studies | 5 | 0.0 |
Lipoproteins, HDL Cholesterol/*blood | 2 | 0.0 |
Particle Size | 3 | 1.0 |
Triglycerides/*blood | 2 | 0.0 |
Lung Diseases, Interstitial/*radiography | 3 | 100.0 |
Mutation | 21 | 0.0 |
Protein Structure, Tertiary | 2 | 0.0 |
Porphyria, Acute Intermittent/*complications/physiopathology | 2 | 100.0 |
Sex Characteristics | 2 | 0.0 |
Switzerland | 2 | 2.0 |
Treatment Outcome | 3 | 0.0 |
Down-Regulation/physiology | 2 | 2.0 |
Transfection | 6 | 0.0 |
Tumor Cells, Cultured | 4 | 0.0 |
Up-Regulation/physiology | 2 | 1.0 |
France | 5 | 1.0 |
Acute Disease | 65 | 2.0 |
Age Factors | 4 | 0.0 |
Pregnancy | 13 | 0.0 |
Risk Factors | 9 | 0.0 |
Sex Factors | 7 | 0.0 |
Cholangiopancreatography, Endoscopic Retrograde | 2 | 13.0 |
Chronic Disease | 12 | 0.0 |
*Gene Transfer Techniques | 2 | 0.0 |
Genetic Markers | 3 | 0.0 |
Mice, Inbred BALB C | 3 | 0.0 |
Polymerase Chain Reaction | 23 | 0.0 |
Cholesterol/blood | 2 | 0.0 |
Lipoproteins, HDL Cholesterol/blood | 2 | 0.0 |
Triglycerides/blood | 2 | 0.0 |
Evoked Potentials/physiology | 2 | 7.0 |
Parietal Lobe/anatomy & histology/*physiology | 2 | 66.0 |
Space Perception/*physiology | 2 | 14.0 |
Heterozygote Detection | 8 | 1.0 |
Hydroxymethylbilane Synthase/*genetics | 52 | 96.0 |
Porphyria, Acute Intermittent/*enzymology/genetics | 4 | 100.0 |
Anti-Inflammatory Agents/therapeutic use | 2 | 2.0 |
Biopsy | 6 | 0.0 |
Prognosis | 14 | 0.0 |
Survival Analysis | 2 | 0.0 |
Cell Survival/drug effects | 3 | 0.0 |
Porphyria, Acute Intermittent/*genetics | 23 | 100.0 |
Laterality/physiology | 3 | 5.0 |
Parietal Lobe/*physiology | 4 | 66.0 |
Touch/*physiology | 2 | 22.0 |
Aged, 80 and over | 22 | 0.0 |
Chromosome Disorders | 2 | 0.0 |
Statistics, Nonparametric | 2 | 0.0 |
Cause of Death | 3 | 1.0 |
Follow-Up Studies | 4 | 0.0 |
Recurrence | 9 | 0.0 |
Tomography, X-Ray Computed | 3 | 0.0 |
Chi-Square Distribution | 3 | 0.0 |
*Tomography, X-Ray Computed/methods | 2 | 50.0 |
Amino Acid Sequence | 9 | 0.0 |
*Apoptosis | 2 | 0.0 |
COS Cells | 3 | 0.0 |
Cell Division | 2 | 0.0 |
Immunohistochemistry | 3 | 0.0 |
Sequence Alignment | 3 | 0.0 |
Transcription Factors/metabolism | 2 | 0.0 |
Mass Screening | 2 | 1.0 |
Porphyria, Acute Intermittent/*complications | 4 | 100.0 |
Prevalence | 10 | 0.0 |
Severity of Illness Index | 3 | 0.0 |
Sweden/epidemiology | 8 | 7.0 |
Base Sequence | 31 | 0.0 |
Binding Sites | 2 | 0.0 |
Child, Preschool | 10 | 0.0 |
*Exons | 2 | 0.0 |
*Frameshift Mutation | 4 | 2.0 |
Infant, Newborn | 7 | 0.0 |
European Continental Ancestry Group/genetics | 2 | 0.0 |
*Polymorphism, Genetic | 3 | 0.0 |
Leg | 2 | 4.0 |
Polymorphism, Single-Stranded Conformational | 10 | 0.0 |
Sequence Deletion | 4 | 0.0 |
Calcium/metabolism | 2 | 0.0 |
Research Support, U.S. Gov't, Non-P.H.S. | 3 | 0.0 |
Risk | 3 | 0.0 |
Incidence | 3 | 0.0 |
Infant | 7 | 0.0 |
Japan | 5 | 0.0 |
Italy | 2 | 0.0 |
Mutation/*genetics | 4 | 0.0 |
Porphyria, Acute Intermittent/*enzymology/*genetics | 6 | 100.0 |
Electrophoresis | 4 | 1.0 |
Exons | 18 | 0.0 |
Founder Effect | 3 | 2.0 |
Genes, Dominant | 7 | 0.0 |
Introns | 11 | 0.0 |
Polymorphism, Genetic | 7 | 0.0 |
Autoimmune Diseases/*immunology | 2 | 1.0 |
Flow Cytometry | 3 | 0.0 |
Rats | 4 | 0.0 |
Spleen/immunology | 2 | 1.0 |
Reference Values | 7 | 0.0 |
DNA/chemistry/genetics | 2 | 0.0 |
*Heterozygote | 3 | 0.0 |
Hydroxymethylbilane Synthase/genetics | 8 | 50.0 |
Porphyria, Acute Intermittent/enzymology/*genetics | 7 | 100.0 |
Reverse Transcriptase Polymerase Chain Reaction | 4 | 0.0 |
Autoimmune Diseases/*pathology | 2 | 28.0 |
Pulmonary Alveoli/pathology | 4 | 16.0 |
Respiratory Distress Syndrome, Adult/diagnosis | 2 | 100.0 |
Diagnostic Errors | 3 | 4.0 |
Fatal Outcome | 3 | 0.0 |
Heterozygote | 8 | 0.0 |
Liver/pathology | 2 | 1.0 |
Aminolevulinic Acid/urine | 12 | 60.0 |
Erythrocytes/metabolism | 4 | 2.0 |
Porphobilinogen/urine | 17 | 94.0 |
RNA Splicing | 4 | 0.0 |
Necrosis | 5 | 1.0 |
Arginine/therapeutic use | 3 | 42.0 |
Fluid Therapy | 2 | 9.0 |
Heme/therapeutic use | 3 | 75.0 |
DNA Primers | 3 | 0.0 |
Autoantibodies/*blood | 2 | 0.0 |
Abdominal Pain/etiology | 2 | 14.0 |
Genotype | 2 | 0.0 |
Phenotype | 2 | 0.0 |
Biological Markers | 6 | 0.0 |
Enzyme-Linked Immunosorbent Assay | 3 | 0.0 |
Porphyrias/*genetics | 5 | 62.0 |
Disease Models, Animal | 3 | 0.0 |
Enzyme Induction | 2 | 0.0 |
Heme/*biosynthesis | 2 | 22.0 |
Kinetics | 7 | 0.0 |
Liver/metabolism | 2 | 0.0 |
Escherichia coli/genetics | 3 | 0.0 |
Haplotypes | 7 | 0.0 |
*Point Mutation | 6 | 0.0 |
Polymerase Chain Reaction/methods | 3 | 0.0 |
Depth Perception/*physiology | 2 | 40.0 |
Neurons/physiology | 2 | 1.0 |
Psychomotor Performance/*physiology | 5 | 11.0 |
Frameshift Mutation | 3 | 0.0 |
Gene Deletion | 2 | 0.0 |
Mutation, Missense | 2 | 0.0 |
Sequence Analysis, DNA/methods | 2 | 2.0 |
Cyclophosphamide/therapeutic use | 2 | 2.0 |
Lung Diseases, Interstitial/*diagnosis/drug therapy | 2 | 100.0 |
Prednisone/therapeutic use | 2 | 1.0 |
Chromosomes, Human, Pair 11 | 2 | 0.0 |
Mutagenesis | 3 | 0.0 |
Hyponatremia/etiology | 2 | 33.0 |
Porphyria, Acute Intermittent/complications | 3 | 100.0 |
Prospective Studies | 6 | 0.0 |
Registries | 3 | 1.0 |
Survival Rate | 2 | 0.0 |
Hydroxymethylbilane Synthase/*metabolism | 4 | 80.0 |
Reproducibility of Results | 4 | 0.0 |
Sweden | 10 | 4.0 |
RNA, Messenger/analysis | 4 | 0.0 |
Family Health | 6 | 0.0 |
Hydroxymethylbilane Synthase/metabolism | 2 | 100.0 |
Amylases/blood | 3 | 13.0 |
Sensitivity and Specificity | 9 | 0.0 |
Hemin/therapeutic use | 4 | 100.0 |
Porphyrias/*enzymology/*genetics | 2 | 100.0 |
Exons/*genetics | 4 | 1.0 |
Isoenzymes/genetics | 2 | 0.0 |
Ligands | 2 | 0.0 |
Oxidation-Reduction | 2 | 0.0 |
Alleles | 6 | 0.0 |
Codon | 3 | 0.0 |
Leukocytes/enzymology | 3 | 2.0 |
Antibody Specificity | 2 | 0.0 |
Hemoglobin A, Glycosylated/analysis | 2 | 0.0 |
*Blood Donors | 2 | 1.0 |
Electrophoresis, Agar Gel | 2 | 0.0 |
Erythrocytes/enzymology | 12 | 3.0 |
Hydroxymethylbilane Synthase/blood/*genetics | 3 | 100.0 |
Motor Cortex/*physiology | 2 | 10.0 |
Hand/*physiology | 2 | 40.0 |
Homozygote | 3 | 0.0 |
Porphobilinogen Synthase/deficiency | 2 | 100.0 |
Porphyria, Acute Intermittent | 7 | 100.0 |
Hydroxymethylbilane Synthase/blood/chemistry/*genetics | 2 | 100.0 |
Microsatellite Repeats | 3 | 0.0 |
*Adaptor Proteins, Signal Transducing | 2 | 0.0 |
Receptors, Aryl Hydrocarbon/*metabolism | 2 | 2.0 |
Chromatography, High Pressure Liquid | 3 | 0.0 |
Erythrocytes/*enzymology | 17 | 3.0 |
DNA Mutational Analysis/*methods | 3 | 2.0 |
Mutation/genetics | 2 | 0.0 |
United States | 2 | 0.0 |
Feces/chemistry | 2 | 4.0 |
DNA Damage | 2 | 0.0 |
Heme/biosynthesis | 6 | 33.0 |
Lead Poisoning/*metabolism | 2 | 50.0 |
Mitochondria/metabolism | 2 | 0.0 |
*Genes, Dominant | 2 | 0.0 |
Porphyrias/*enzymology/genetics | 5 | 62.0 |
Hydrogen-Ion Concentration | 4 | 0.0 |
Porphobilinogen/*urine | 2 | 100.0 |
Porphyrins/analysis | 3 | 42.0 |
Cell Aging/immunology | 2 | 18.0 |
Codon, Nonsense | 2 | 1.0 |
Pancreatitis/*etiology | 2 | 25.0 |
Methylprednisolone/therapeutic use | 2 | 4.0 |
Chromosome Mapping | 2 | 0.0 |
DNA, Complementary/genetics | 2 | 0.0 |
Tumor Markers, Biological/*blood | 2 | 0.0 |
Case-Control Studies | 4 | 0.0 |
Finland/epidemiology | 3 | 2.0 |
Acid Phosphatase/blood | 3 | 4.0 |
Alkaline Phosphatase/blood | 4 | 2.0 |
Enzyme Tests | 4 | 5.0 |
Hydroxymethylbilane Synthase/blood | 7 | 87.0 |
Porphyrias/*diagnosis | 3 | 100.0 |
Isoenzymes/*genetics | 2 | 0.0 |
Alkaline Phosphatase/*metabolism | 2 | 9.0 |
RNA, Messenger/genetics | 3 | 0.0 |
Aminolevulinic Acid/*pharmacology | 3 | 33.0 |
In Vitro | 3 | 0.0 |
Protoporphyrins/biosynthesis | 3 | 100.0 |
Spectrometry, Fluorescence | 2 | 0.0 |
Gene Frequency | 3 | 0.0 |
Norway | 2 | 1.0 |
*Alleles | 4 | 0.0 |
Nucleic Acid Hybridization | 3 | 0.0 |
Mutagenesis, Site-Directed | 2 | 0.0 |
Hysterectomy | 2 | 2.0 |
Cross Reactions | 3 | 0.0 |
*Polymorphism, Restriction Fragment Length | 3 | 0.0 |
Combined Modality Therapy | 3 | 0.0 |
Histocytochemistry | 2 | 0.0 |
Polymorphism, Restriction Fragment Length | 5 | 0.0 |
Restriction Mapping | 3 | 0.0 |
Drug Therapy, Combination | 2 | 0.0 |
Hemin/*therapeutic use | 2 | 100.0 |
Porphobilinogen/blood | 2 | 100.0 |
Autoimmune Diseases/*diagnosis | 2 | 16.0 |
Diagnostic Imaging | 2 | 6.0 |
Pancreatic Neoplasms/*diagnosis | 2 | 28.0 |
Pancreatitis/*diagnosis | 2 | 22.0 |
*Porphyria, Acute Intermittent | 3 | 100.0 |
Ferrochelatase/genetics | 2 | 50.0 |
Polymorphism, Single Nucleotide | 2 | 0.0 |
Phenytoin/adverse effects | 2 | 12.0 |
Valproic Acid/adverse effects | 2 | 15.0 |
DNA/genetics | 2 | 0.0 |
Finland | 3 | 1.0 |
Hydroxymethylbilane Synthase/*genetics/immunology | 2 | 100.0 |
Uroporphyrins/urine | 2 | 66.0 |
Oligonucleotide Probes | 2 | 0.0 |
Statistics | 2 | 0.0 |
Porphyrias/enzymology/*genetics | 4 | 57.0 |
Aldosterone/*physiology | 2 | 22.0 |
Biological Transport | 2 | 0.0 |
Carrier Proteins/metabolism | 2 | 0.0 |
Ammonia-Lyases/*genetics | 5 | 71.0 |
Haplotypes/*genetics | 2 | 1.0 |
Dose-Response Relationship, Drug | 3 | 0.0 |
Placenta/*enzymology | 2 | 2.0 |
Ammonia-Lyases/*blood | 11 | 100.0 |
Hydroxymethylbilane Synthase/*blood | 11 | 100.0 |
Ammonia-Lyases/*deficiency | 2 | 100.0 |
Leukocytes/*enzymology | 2 | 3.0 |
Glucose Tolerance Test | 3 | 0.0 |
Insulin/secretion | 2 | 3.0 |
Linkage (Genetics) | 2 | 0.0 |
*Cross-Linking Reagents | 2 | 13.0 |
Immunoglobulins/*metabolism | 2 | 3.0 |
Malonates/*immunology | 2 | 100.0 |
Malondialdehyde/*immunology | 2 | 66.0 |
Muramidase/immunology | 2 | 14.0 |
Protein Binding | 3 | 0.0 |
Immunodiffusion | 2 | 0.0 |
Fibroblasts/metabolism | 2 | 0.0 |
Mutagenicity Tests | 2 | 1.0 |
5-Aminolevulinate Synthetase/*blood | 2 | 100.0 |
Estradiol/therapeutic use | 2 | 16.0 |
Clinical Trials | 3 | 0.0 |
Random Allocation | 2 | 0.0 |
Periodicity | 2 | 4.0 |
Prednisolone/therapeutic use | 2 | 2.0 |
Microscopy, Electron | 2 | 0.0 |
Nerve Degeneration | 2 | 3.0 |
Porphyrins/biosynthesis | 2 | 100.0 |
Porphyrias/*diagnosis/genetics | 4 | 100.0 |
Porphyrias/*drug therapy | 2 | 100.0 |
Polyradiculoneuropathy/*drug therapy | 2 | 66.0 |
Heme/*analogs & derivatives | 2 | 33.0 |
Alkaline Phosphatase/metabolism | 2 | 1.0 |
Cells, Cultured | 3 | 0.0 |
Fibroblasts/*enzymology | 2 | 5.0 |
Alcoholism/complications | 2 | 9.0 |
Porphyrins/metabolism | 2 | 25.0 |
Porphyrins/analysis/urine | 2 | 66.0 |
Porphyria, Acute Intermittent/complications/*diagnosis/therapy | 2 | 100.0 |
