Page last updated: 2024-08-08 18:13:12
Acute Porphyria
Synonyms(7)
Synonym |
Acute Porphyria |
Hydroxymethylbilane Synthase Deficiency |
PBGD Deficiency |
Porphobilinogen Deaminase Deficiency |
Porphyria, Swedish Type |
UPS Deficiency |
Uroporphyrinogen Synthase Deficiency |
Research
Studies (437)
Timeframe | Studies, This Condition (%) | All Conditions % |
pre-1990 | 84 (19.22) | 23.3326 |
1990's | 79 (18.08) | 12.5806 |
2000's | 99 (22.65) | 18.1394 |
2010's | 95 (21.74) | 28.8240 |
2020's | 53 (12.13) | 9.53 |
Treatment of neuropathic pain in acute intermittent porphyria with gabapentin.Journal of the Formosan Medical Association = Taiwan yi zhi, , Volume: 112, Issue:9, 2013
Gabapentin reduces neurovisceral pain of porphyria.Acta neurologica Taiwanica, , Volume: 19, Issue:2, 2010
Use of propofol anesthesia and adjunctive treatment with levetiracetam and gabapentin in managing status epilepticus in a patient of acute intermittent porphyria.Epilepsia, , Volume: 49, Issue:5, 2008
Drug use in porphyria: a therapeutic dilemma.Singapore medical journal, , Volume: 49, Issue:10, 2008
Gabapentin in seizures due to acute intermittent porphyria.Neurology India, , Volume: 48, Issue:2, 2000
Treatment of seizures in acute intermittent porphyria: safety and efficacy of gabapentin.Seizure, , Volume: 7, Issue:5, 1998
Increased delta aminolevulinic acid and decreased pineal melatonin production. A common event in acute porphyria studies in the rat.The Journal of clinical investigation, , Jan-01, Volume: 97, Issue:1, 1996
Gabapentin treatment of seizures in acute intermittent porphyria.Neurology, , Volume: 45, Issue:6, 1995
Acute intermittent porphyria presenting with neurological emergency: review of six cases.Neurology India, , Volume: 55, Issue:4
Gabapentin and propofol for treatment of status epilepticus in acute intermittent porphyria.Journal of postgraduate medicine, , Volume: 49, Issue:3
Porphyrin precursors and risk of primary liver cancer in acute intermittent porphyria: A case-control study of 188 patients.Journal of inherited metabolic disease, , Volume: 46, Issue:6, 2023
Transcriptome profile analysis reveals putative molecular mechanisms of 5-aminolevulinic acid toxicity.Archives of biochemistry and biophysics, , Volume: 738, 2023
AGA Clinical Practice Update on Diagnosis and Management of Acute Hepatic Porphyrias: Expert Review.Gastroenterology, , Volume: 164, Issue:3, 2023
Heterogeneous molecular behavior in liver tumors (HCC and CCA) of two patients with acute intermittent porphyria.Journal of cancer research and clinical oncology, , Volume: 149, Issue:6, 2023
Understanding Carbohydrate Metabolism and Insulin Resistance in Acute Intermittent Porphyria.International journal of molecular sciences, , Dec-20, Volume: 24, Issue:1, 2022
Evaluation of Metabolic Changes in Acute Intermittent Porphyria Patients by Targeted Metabolomics.International journal of molecular sciences, , Mar-16, Volume: 23, Issue:6, 2022
Mechanistic modelling of enzyme-restoration effects of new recombinant liver-targeted proteins in acute intermittent porphyria.British journal of pharmacology, , Volume: 179, Issue:14, 2022
Uncontrolled Acute Intermittent Porphyria as a Cause of Spontaneous Abortion.Medical archives (Sarajevo, Bosnia and Herzegovina), , Volume: 74, Issue:2, 2020
Phase 3 Trial of RNAi Therapeutic Givosiran for Acute Intermittent Porphyria.The New England journal of medicine, , 06-11, Volume: 382, Issue:24, 2020
Pharmacokinetics and Pharmacodynamics of the Small Interfering Ribonucleic Acid, Givosiran, in Patients With Acute Hepatic Porphyria.Clinical pharmacology and therapeutics, , Volume: 108, Issue:1, 2020
Computational disease model of phenobarbital-induced acute attacks in an acute intermittent porphyria mouse model.Molecular genetics and metabolism, , Volume: 128, Issue:3, 2019
Homozygous hydroxymethylbilane synthase knock-in mice provide pathogenic insights into the severe neurological impairments present in human homozygous dominant acute intermittent porphyria.Human molecular genetics, , 06-01, Volume: 28, Issue:11, 2019
Lifestyle factors including diet and biochemical biomarkers in acute intermittent porphyria: Results from a case-control study in northern Norway.Molecular genetics and metabolism, , Volume: 128, Issue:3, 2019
Phase I open label liver-directed gene therapy clinical trial for acute intermittent porphyria.Journal of hepatology, , Volume: 65, Issue:4, 2016
Liver Transplantation for Acute Intermittent Porphyria: Biochemical and Pathologic Studies of the Explanted Liver.Molecular medicine (Cambridge, Mass.), , Jun-05, Volume: 21, 2015
High prevalence of and potential mechanisms for chronic kidney disease in patients with acute intermittent porphyria.Kidney international, , Volume: 88, Issue:2, 2015
Role of delta-aminolevulinic acid in the symptoms of acute porphyria.The American journal of medicine, , Volume: 128, Issue:3, 2015
Urinary excretion of porphyrins, porphobilinogen and δ-aminolaevulinic acid following an attack of acute intermittent porphyria.Journal of clinical pathology, , Volume: 67, Issue:1, 2014
Hepatocyte transplantation ameliorates the metabolic abnormality in a mouse model of acute intermittent porphyria.Cell transplantation, , Volume: 23, Issue:9, 2014
Direct and simultaneous quantitation of 5-aminolaevulinic acid and porphobilinogen in human serum or plasma by hydrophilic interaction liquid chromatography-atmospheric pressure chemical ionization/tandem mass spectrometry.Biomedical chromatography : BMC, , Volume: 27, Issue:2, 2013
Direct and simultaneous determination of 5-aminolaevulinic acid and porphobilinogen in urine by hydrophilic interaction liquid chromatography-electrospray ionisation/tandem mass spectrometry.Biomedical chromatography : BMC, , Volume: 26, Issue:8, 2012
Renal failure affects the enzymatic activities of the three first steps in hepatic heme biosynthesis in the acute intermittent porphyria mouse.PloS one, , Volume: 7, Issue:3, 2012
Neurological complications of acute intermittent porphyria.European neurology, , Volume: 66, Issue:5, 2011
A LC-MS/MS method for the specific, sensitive, and simultaneous quantification of 5-aminolevulinic acid and porphobilinogen.Journal of chromatography. B, Analytical technologies in the biomedical and life sciences, , Aug-15, Volume: 879, Issue:24, 2011
[Porphyria. What to think in the absence of a cause of abdominal pain].La Revue du praticien, , Dec-20, Volume: 60, Issue:10, 2010
Acute porphyrias may be overlooked in patients taking methenamine hippurate.Clinical chemistry and laboratory medicine, , Volume: 48, Issue:9, 2010
[Acute intermittent porphyria and inappropriate ADH syndrome].Revista espanola de anestesiologia y reanimacion, , Volume: 57, Issue:5, 2010
Porphobilinogen deaminase over-expression in hepatocytes, but not in erythrocytes, prevents accumulation of toxic porphyrin precursors in a mouse model of acute intermittent porphyria.Journal of hepatology, , Volume: 52, Issue:3, 2010
Plasma porphobilinogen as a sensitive biomarker to monitor the clinical and therapeutic course of acute intermittent porphyria attacks.European journal of internal medicine, , Volume: 20, Issue:2, 2009
Porphyrin precursors and porphyrins in three patients with acute intermittent porphyria and end-stage renal disease under different therapy regimes.Cellular and molecular biology (Noisy-le-Grand, France), , Feb-16, Volume: 55, Issue:1, 2009
Awareness is the name of the game: clinical and biochemical evaluation of a case of a girl diagnosed with acute intermittent porphyria associated with autism.Cellular and molecular biology (Noisy-le-Grand, France), , Feb-16, Volume: 55, Issue:1, 2009
Hemodialysis: a therapeutic option for severe attacks of acute intermittent porphyria in developing countries.Hemodialysis international. International Symposium on Home Hemodialysis, , Volume: 12, Issue:1, 2008
A family with acute intermittent porphyria.Journal of the College of Physicians and Surgeons--Pakistan : JCPSP, , Volume: 18, Issue:5, 2008
[Acute intermittent porphyria--report of 3 cases intercurrent with menstrual periods].Zhonghua er ke za zhi = Chinese journal of pediatrics, , Volume: 45, Issue:7, 2007
[Acute porphyrias: problem of primary diagnosis in Russia and CIS countries].Terapevticheskii arkhiv, , Volume: 79, Issue:8, 2007
Metabolization of porphyrinogenic agents in brain: involvement of the phase I drug metabolizing system. A comparative study in liver and kidney.Cellular and molecular neurobiology, , Volume: 27, Issue:6, 2007
Safe usage of isotretinoin in a woman with latent acute intermittent porphyria.Acta dermato-venereologica, , Volume: 87, Issue:3, 2007
Acute intermittent porphyria with peripheral neuropathy: a follow-up study after hematin treatment.Journal of the neurological sciences, , Sep-15, Volume: 260, Issue:1-2, 2007
Safety, pharmacokinetics and pharmocodynamics of recombinant human porphobilinogen deaminase in healthy subjects and asymptomatic carriers of the acute intermittent porphyria gene who have increased porphyrin precursor excretion.Clinical pharmacokinetics, , Volume: 46, Issue:4, 2007
Proteasomal degradation regulates expression of porphobilinogen deaminase (PBGD) mutants of acute intermittent porphyria.Biochimica et biophysica acta, , Volume: 1762, Issue:9, 2006
Estimation and application of biological variation of urinary delta-aminolevulinic acid and porphobilinogen in healthy individuals and in patients with acute intermittent porphyria.Clinical chemistry, , Volume: 52, Issue:4, 2006
Variations in porphobilinogen and 5-aminolevulinic acid concentrations in plasma and urine from asymptomatic carriers of the acute intermittent porphyria gene with increased porphyrin precursor excretion.Clinical chemistry, , Volume: 52, Issue:4, 2006
Acute intermittent porphyria.Best practice & research. Clinical gastroenterology, , Volume: 19, Issue:2, 2005
Inhibition of 5-aminolevulinic acid-induced DNA damage by melatonin, N1-acetyl-N2-formyl-5-methoxykynuramine, quercetin or resveratrol.Journal of pineal research, , Volume: 38, Issue:2, 2005
Fluorometric measurement of 5-aminolevulinic acid in serum.Clinica chimica acta; international journal of clinical chemistry, , Volume: 347, Issue:1-2, 2004
Adenoviral-mediated expression of porphobilinogen deaminase in liver restores the metabolic defect in a mouse model of acute intermittent porphyria.Molecular therapy : the journal of the American Society of Gene Therapy, , Volume: 10, Issue:2, 2004
Liver transplantation as a cure for acute intermittent porphyria.Lancet (London, England), , Feb-28, Volume: 363, Issue:9410, 2004
Renal transplantation in a case of acute intermittent porphyria.Journal of clinical pharmacology, , Volume: 43, Issue:10, 2003
Correction of the biochemical defect in porphobilinogen deaminase deficient cells by non-viral gene delivery.Molecular and cellular biochemistry, , Volume: 250, Issue:1-2, 2003
Acute intermittent porphyria in childhood: a population-based study.Acta paediatrica (Oslo, Norway : 1992), , Volume: 92, Issue:5, 2003
Is 5-aminolevulinic acid involved in the hepatocellular carcinogenesis of acute intermittent porphyria?Cellular and molecular biology (Noisy-le-Grand, France), , Volume: 48, Issue:1, 2002
Molecular study of the hydroxymethylbilane synthase gene (HMBS) among Polish patients with acute intermittent porphyria.Human mutation, , Volume: 19, Issue:3, 2002
Molecular and biochemical studies of acute intermittent porphyria in 196 patients and their families.Clinical chemistry, , Volume: 48, Issue:11, 2002
Zinc mesoporphyrin represses induced hepatic 5-aminolevulinic acid synthase and reduces heme oxygenase activity in a mouse model of acute hepatic porphyria.Hepatology (Baltimore, Md.), , Volume: 33, Issue:5, 2001
A splicing mutation in the hydroxymethylbilane synthase gene in a Japanese family with acute intermittent porphyria.Clinical biochemistry, , Volume: 32, Issue:6, 1999
Investigations on the formation of urinary coproporphyrin isomers I-IV in 5-aminolevulinic acid dehydratase deficiency porphyria, acute lead intoxication and after oral 5-aminolevulinic acid loading.Clinical biochemistry, , Volume: 32, Issue:2, 1999
[Perplexing acute or chronic somatic or psychiatric symptoms: possibly due to porphyria].Nederlands tijdschrift voor geneeskunde, , Aug-08, Volume: 142, Issue:32, 1998
5-Aminolevulinic acid dehydratase deficiency porphyria: a twenty-year clinical and biochemical follow-up.Clinical chemistry, , Volume: 44, Issue:9, 1998
DNA alkylation by 4,5-dioxovaleric acid, the final oxidation product of 5-aminolevulinic acid.Chemical research in toxicology, , Volume: 11, Issue:2, 1998
Effects of clonidine in a primed rat model of acute hepatic porphyria.Arzneimittel-Forschung, , Volume: 47, Issue:6, 1997
Molecular analysis of porphobilinogen (PBG) deaminase gene mutations in acute intermittent porphyria: first study in patients of Slavic origin.Scandinavian journal of clinical and laboratory investigation, , Volume: 57, Issue:3, 1997
Oxidative stress in acute intermittent porphyria and lead poisoning may be triggered by 5-aminolevulinic acid.Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas, , Volume: 29, Issue:7, 1996
Determination of 5-aminolaevulinic acid dehydratase activity in erythrocytes and porphobilinogen in urine by micellar electrokinetic capillary chromatography.Journal of chromatography. A, , Jan-26, Volume: 722, Issue:1-2, 1996
Porphobilinogen deaminase deficiency in mice causes a neuropathy resembling that of human hepatic porphyria.Nature genetics, , Volume: 12, Issue:2, 1996
Increased delta aminolevulinic acid and decreased pineal melatonin production. A common event in acute porphyria studies in the rat.The Journal of clinical investigation, , Jan-01, Volume: 97, Issue:1, 1996
5-Aminolevulinic acid induces single-strand breaks in plasmid pBR322 DNA in the presence of Fe2+ ions.Biochimica et biophysica acta, , Feb-22, Volume: 1225, Issue:3, 1994
Coexistence of hereditary coproporphyria with acute intermittent porphyria.Annals of medicine, , Volume: 26, Issue:2, 1994
5-Aminolevulinic acid mediates the in vivo and in vitro formation of 8-hydroxy-2'-deoxyguanosine in DNA.Carcinogenesis, , Volume: 15, Issue:10, 1994
Elevated porphyrins following propofol anaesthesia in acute intermittent porphyria.Anaesthesia, , Volume: 49, Issue:11, 1994
delta-Aminolevulinic acid effects on neuronal and glial tumor cell lines.Neurochemical research, , Volume: 18, Issue:12, 1993
Frequency of low erythrocyte porphobilinogen deaminase activity in Finland.Journal of internal medicine, , Volume: 231, Issue:4, 1992
The hepatic porphyrias.Progress in medical genetics, , Volume: 4, 1980
[Uroporphyrinogen-I-synthetase in erythrocytes in acute intermittent porphyria].Acta biologica et medica Germanica, , Volume: 36, Issue:5-6, 1977
Delta-amino-levulinic acid, porphobilinogen, and porphyrin excretion throughout pregnancy in a patient with acute intermittent porphyria with "passive porphyria" in the infant.The Journal of laboratory and clinical medicine, , Volume: 58, 1961
Excretion of porphobilinogen and Delta-aminolaevulinic acid in acute porphyria.Lancet (London, England), , Aug-26, Volume: 2, Issue:7200, 1961
Porphobilinogen and delta-amino levulinic acid in acute porphyria.Proceedings of the Society for Experimental Biology and Medicine. Society for Experimental Biology and Medicine (New York, N.Y.), , Volume: 88, Issue:2, 1955
[Diagnostic difficulties in acute intermittent porphyria with neurological manifestations: apropos of 2 cases].Revista de neurologia, , Volume: 32, Issue:1
The dual face of endogenous alpha-aminoketones: pro-oxidizing metabolic weapons.Comparative biochemistry and physiology. Toxicology & pharmacology : CBP, , Volume: 146, Issue:1-2
Biochemical characterization of porphobilinogen deaminase-deficient mice during phenobarbital induction of heme synthesis and the effect of enzyme replacement.Molecular medicine (Cambridge, Mass.), , Volume: 9, Issue:9-12
Correlation between biochemical findings, structural and enzymatic abnormalities in mutated HMBS identified in six Israeli families with acute intermittent porphyria.Blood cells, molecules & diseases, , Volume: 42, Issue:2
Mass spectrometric characterisation of a condensation product between porphobilinogen and indolyl-3-acryloylglycine in urine of patients with acute intermittent porphyria.Journal of mass spectrometry : JMS, , Volume: 50, Issue:7, 2015
[THE GLYCINE TOLERANCE TEST IN THE COURSE OF ACUTE INTERMITTENT PORPHYRIA].Bulletins et memoires de la Societe medicale des hopitaux de Paris, , Nov-13, Volume: 115, 1964
ACUTE INTERMITTENT PORPHYRIA IN A CHILD WITH A NOTE ON THE GLYCINE LOADING TEST.Pediatrics, , Volume: 34, 1964
Glycine metabolism in acute porphyria.Clinical science, , Volume: 20, 1961
[Acute idiopathic porphyria with abdominal onset; neurological syndrome appearing after surgery; therapy with glycocoll & edathamil calcium].Bulletins et memoires de la Societe medicale des hopitaux de Paris, , Volume: 75, Issue:9-11
Evaluation of Metabolic Changes in Acute Intermittent Porphyria Patients by Targeted Metabolomics.International journal of molecular sciences, , Mar-16, Volume: 23, Issue:6, 2022
Comprehensive analysis of the tryptophan metabolome in urine of patients with acute intermittent porphyria.Journal of chromatography. B, Analytical technologies in the biomedical and life sciences, , Aug-15, Volume: 1060, 2017
Circadian rhythms in acute intermittent porphyria--a pilot study.European journal of clinical investigation, , Volume: 43, Issue:7, 2013
Inhibition of 5-aminolevulinic acid-induced DNA damage by melatonin, N1-acetyl-N2-formyl-5-methoxykynuramine, quercetin or resveratrol.Journal of pineal research, , Volume: 38, Issue:2, 2005
Melatonin and epileptic seizures in patients with acute intermittent porphyria.Epileptic disorders : international epilepsy journal with videotape, , Volume: 2, Issue:4, 2000
Increased delta aminolevulinic acid and decreased pineal melatonin production. A common event in acute porphyria studies in the rat.The Journal of clinical investigation, , Jan-01, Volume: 97, Issue:1, 1996
Decreased nocturnal plasma melatonin levels in patients with recurrent acute intermittent porphyria attacks.Life sciences, , Volume: 53, Issue:8, 1993
Porphyrin precursors and risk of primary liver cancer in acute intermittent porphyria: A case-control study of 188 patients.Journal of inherited metabolic disease, , Volume: 46, Issue:6, 2023
AGA Clinical Practice Update on Diagnosis and Management of Acute Hepatic Porphyrias: Expert Review.Gastroenterology, , Volume: 164, Issue:3, 2023
Understanding Carbohydrate Metabolism and Insulin Resistance in Acute Intermittent Porphyria.International journal of molecular sciences, , Dec-20, Volume: 24, Issue:1, 2022
ALAD Inhibition by Porphobilinogen Rationalizes the Accumulation of δ-Aminolevulinate in Acute Porphyrias.Biochemistry, , 11-01, Volume: 61, Issue:21, 2022
Disease burden in patients with acute hepatic porphyria: experience from the phase 3 ENVISION study.Orphanet journal of rare diseases, , 08-26, Volume: 17, Issue:1, 2022
Bi-allelic hydroxymethylbilane synthase inactivation defines a homogenous clinico-molecular subtype of hepatocellular carcinoma.Journal of hepatology, , Volume: 77, Issue:4, 2022
Peritoneal dialysis resulting in discontinuance of recurring attacks of acute intermittent porphyria: A case report.Seminars in dialysis, , Volume: 35, Issue:1, 2022
Turning Purple with Pain.The New England journal of medicine, , 08-05, Volume: 385, Issue:6, 2021
5-Aminolevulinate dehydratase porphyria: Update on hepatic 5-aminolevulinic acid synthase induction and long-term response to hemin.Molecular genetics and metabolism, , Volume: 131, Issue:4, 2020
Uncontrolled Acute Intermittent Porphyria as a Cause of Spontaneous Abortion.Medical archives (Sarajevo, Bosnia and Herzegovina), , Volume: 74, Issue:2, 2020
Phase 3 Trial of RNAi Therapeutic Givosiran for Acute Intermittent Porphyria.The New England journal of medicine, , 06-11, Volume: 382, Issue:24, 2020
Acute intermittent porphyria: A case reportBiomedica : revista del Instituto Nacional de Salud, , 03-01, Volume: 40, Issue:1, 2020
Pharmacokinetics and Pharmacodynamics of the Small Interfering Ribonucleic Acid, Givosiran, in Patients With Acute Hepatic Porphyria.Clinical pharmacology and therapeutics, , Volume: 108, Issue:1, 2020
Acute intermittent porphyria and anti-tuberculosis therapy.QJM : monthly journal of the Association of Physicians, , Mar-01, Volume: 113, Issue:3, 2020
28-Year-Old Woman With Severe Generalized Abdominal Pain.Mayo Clinic proceedings, , Volume: 94, Issue:7, 2019
High penetrance of acute intermittent porphyria in a Spanish founder mutation population and CYP2D6 genotype as a susceptibility factor.Orphanet journal of rare diseases, , 02-26, Volume: 14, Issue:1, 2019
Phase 1 Trial of an RNA Interference Therapy for Acute Intermittent Porphyria.The New England journal of medicine, , 02-07, Volume: 380, Issue:6, 2019
Computational disease model of phenobarbital-induced acute attacks in an acute intermittent porphyria mouse model.Molecular genetics and metabolism, , Volume: 128, Issue:3, 2019
Homozygous hydroxymethylbilane synthase knock-in mice provide pathogenic insights into the severe neurological impairments present in human homozygous dominant acute intermittent porphyria.Human molecular genetics, , 06-01, Volume: 28, Issue:11, 2019
Lifestyle factors including diet and biochemical biomarkers in acute intermittent porphyria: Results from a case-control study in northern Norway.Molecular genetics and metabolism, , Volume: 128, Issue:3, 2019
Axonal Polyneuropathy in a Man Treated for Pulmonary Cocci: A Case of Acute Intermittent Porphyria.The American journal of case reports, , Sep-18, Volume: 20, 2019
A novel 55-basepair deletion of hydroxymethylbilane synthase gene found in a Chinese patient with acute intermittent porphyria and her family: A case report.Medicine, , Volume: 97, Issue:37, 2018
Rapid spectrophotometric quantification of urinary porphyrins and porphobilinogen as screening tool for attacks of acute porphyria.Journal of biomedical optics, , Volume: 23, Issue:5, 2018
Effects of volatile anaesthetics on heme metabolism in a murine genetic model of Acute Intermittent Porphyria. A comparative study with other porphyrinogenic drugs.Biochimica et biophysica acta. General subjects, , Volume: 1862, Issue:6, 2018
[CME: Acute Intermittent Porphyria: When to Think of It? What Must be Checked? How to Treat?]Praxis, , Volume: 107, Issue:3, 2018
Validation and evaluation of two porphobilinogen deaminase activity assays for diagnosis of acute intermittent porphyria.Clinica chimica acta; international journal of clinical chemistry, , Volume: 479, 2018
Porphyria.The New England journal of medicine, , Aug-31, Volume: 377, Issue:9, 2017
Acute Intermittent Porphyria in children: A case report and review of the literature.Molecular genetics and metabolism, , Volume: 119, Issue:4, 2016
Red-Brown Urine in a Patient with Chronic HIV Infection and Quadriparesis.Clinical chemistry, , Volume: 62, Issue:9, 2016
Challenges in the successful management of a case of acute intermittent porphyria in India.Tropical doctor, , Volume: 46, Issue:3, 2016
Mass spectrometric characterisation of a condensation product between porphobilinogen and indolyl-3-acryloylglycine in urine of patients with acute intermittent porphyria.Journal of mass spectrometry : JMS, , Volume: 50, Issue:7, 2015
Liver Transplantation for Acute Intermittent Porphyria: Biochemical and Pathologic Studies of the Explanted Liver.Molecular medicine (Cambridge, Mass.), , Jun-05, Volume: 21, 2015
High prevalence of and potential mechanisms for chronic kidney disease in patients with acute intermittent porphyria.Kidney international, , Volume: 88, Issue:2, 2015
Sudden bilateral reversible vision loss: a rare presentation of acute intermittent porphyria.The Journal of the Association of Physicians of India, , Volume: 62, Issue:5, 2014
Prevalence and clinical features of acute intermittent porphyria: a retrospective analysis.Journal of the American Geriatrics Society, , Volume: 62, Issue:9, 2014
[Dark red urine].MMW Fortschritte der Medizin, , Apr-17, Volume: 156, Issue:7, 2014
Images in emergency medicine. Acute intermittent porphyria.Annals of emergency medicine, , Volume: 63, Issue:2, 2014
Urinary excretion of porphyrins, porphobilinogen and δ-aminolaevulinic acid following an attack of acute intermittent porphyria.Journal of clinical pathology, , Volume: 67, Issue:1, 2014
Hepatocyte transplantation ameliorates the metabolic abnormality in a mouse model of acute intermittent porphyria.Cell transplantation, , Volume: 23, Issue:9, 2014
Direct and simultaneous quantitation of 5-aminolaevulinic acid and porphobilinogen in human serum or plasma by hydrophilic interaction liquid chromatography-atmospheric pressure chemical ionization/tandem mass spectrometry.Biomedical chromatography : BMC, , Volume: 27, Issue:2, 2013
Circadian rhythms in acute intermittent porphyria--a pilot study.European journal of clinical investigation, , Volume: 43, Issue:7, 2013
Acute intermittent porphyria: fatal complications of treatment.Clinical medicine (London, England), , Volume: 12, Issue:3, 2012
Direct and simultaneous determination of 5-aminolaevulinic acid and porphobilinogen in urine by hydrophilic interaction liquid chromatography-electrospray ionisation/tandem mass spectrometry.Biomedical chromatography : BMC, , Volume: 26, Issue:8, 2012
Acute non-specific abdominal pain with port-wine urine.ANZ journal of surgery, , Volume: 82, Issue:6, 2012
Acute intermittent porphyria: a diagnostic challenge.Journal of child neurology, , Volume: 27, Issue:7, 2012
Neurological complications of acute intermittent porphyria.European neurology, , Volume: 66, Issue:5, 2011
A LC-MS/MS method for the specific, sensitive, and simultaneous quantification of 5-aminolevulinic acid and porphobilinogen.Journal of chromatography. B, Analytical technologies in the biomedical and life sciences, , Aug-15, Volume: 879, Issue:24, 2011
Evaluation of a commercially available rapid urinary porphobilinogen test.Clinical chemistry and laboratory medicine, , Volume: 49, Issue:9, 2011
False-positive accumulation of metaiodobenzylguanidine in a case with acute intermittent porphyria.Internal medicine (Tokyo, Japan), , Volume: 50, Issue:9, 2011
[Porphyria. What to think in the absence of a cause of abdominal pain].La Revue du praticien, , Dec-20, Volume: 60, Issue:10, 2010
Marked geographic aggregation of acute intermittent porphyria families carrying mutation Q180X in Venezuelan populations, with description of further mutations.Journal of inherited metabolic disease, , Volume: 33 Suppl 3, 2010
Acute porphyrias may be overlooked in patients taking methenamine hippurate.Clinical chemistry and laboratory medicine, , Volume: 48, Issue:9, 2010
[Acute intermittent porphyria and inappropriate ADH syndrome].Revista espanola de anestesiologia y reanimacion, , Volume: 57, Issue:5, 2010
Combined liver and kidney transplantation in acute intermittent porphyria.Transplant international : official journal of the European Society for Organ Transplantation, , Volume: 23, Issue:6, 2010
Porphobilinogen deaminase over-expression in hepatocytes, but not in erythrocytes, prevents accumulation of toxic porphyrin precursors in a mouse model of acute intermittent porphyria.Journal of hepatology, , Volume: 52, Issue:3, 2010
Remarks on the acute intermittent porphyria.Annals of clinical biochemistry, , Volume: 46, Issue:Pt 4, 2009
Plasma porphobilinogen as a sensitive biomarker to monitor the clinical and therapeutic course of acute intermittent porphyria attacks.European journal of internal medicine, , Volume: 20, Issue:2, 2009
Porphyrin precursors and porphyrins in three patients with acute intermittent porphyria and end-stage renal disease under different therapy regimes.Cellular and molecular biology (Noisy-le-Grand, France), , Feb-16, Volume: 55, Issue:1, 2009
Awareness is the name of the game: clinical and biochemical evaluation of a case of a girl diagnosed with acute intermittent porphyria associated with autism.Cellular and molecular biology (Noisy-le-Grand, France), , Feb-16, Volume: 55, Issue:1, 2009
Hemodialysis: a therapeutic option for severe attacks of acute intermittent porphyria in developing countries.Hemodialysis international. International Symposium on Home Hemodialysis, , Volume: 12, Issue:1, 2008
A family with acute intermittent porphyria.Journal of the College of Physicians and Surgeons--Pakistan : JCPSP, , Volume: 18, Issue:5, 2008
The case: a pregnant woman with hyponatremia.Kidney international, , Volume: 72, Issue:9, 2007
[Management of pregnancy in women with acute porphyria. Case reports].Terapevticheskii arkhiv, , Volume: 79, Issue:8, 2007
[Acute porphyrias: problem of primary diagnosis in Russia and CIS countries].Terapevticheskii arkhiv, , Volume: 79, Issue:8, 2007
Safe usage of isotretinoin in a woman with latent acute intermittent porphyria.Acta dermato-venereologica, , Volume: 87, Issue:3, 2007
Acute intermittent porphyria with peripheral neuropathy: a follow-up study after hematin treatment.Journal of the neurological sciences, , Sep-15, Volume: 260, Issue:1-2, 2007
Safety, pharmacokinetics and pharmocodynamics of recombinant human porphobilinogen deaminase in healthy subjects and asymptomatic carriers of the acute intermittent porphyria gene who have increased porphyrin precursor excretion.Clinical pharmacokinetics, , Volume: 46, Issue:4, 2007
Individualized workup: a new approach to the biochemical diagnosis of acute attacks of neuroporphyria.Physiological research, , Volume: 55 Suppl 2, 2006
Genetic and biochemical characterization of 16 acute intermittent porphyria cases with a high prevalence of the R173W mutation.Journal of inherited metabolic disease, , Volume: 29, Issue:4, 2006
Estimation and application of biological variation of urinary delta-aminolevulinic acid and porphobilinogen in healthy individuals and in patients with acute intermittent porphyria.Clinical chemistry, , Volume: 52, Issue:4, 2006
Variations in porphobilinogen and 5-aminolevulinic acid concentrations in plasma and urine from asymptomatic carriers of the acute intermittent porphyria gene with increased porphyrin precursor excretion.Clinical chemistry, , Volume: 52, Issue:4, 2006
Acute intermittent porphyria.Best practice & research. Clinical gastroenterology, , Volume: 19, Issue:2, 2005
Molecular diagnostics of acute intermittent porphyria.Expert review of molecular diagnostics, , Volume: 4, Issue:2, 2004
Renal transplantation in a case of acute intermittent porphyria.Journal of clinical pharmacology, , Volume: 43, Issue:10, 2003
Acute intermittent porphyria in childhood: a population-based study.Acta paediatrica (Oslo, Norway : 1992), , Volume: 92, Issue:5, 2003
Testing for porphobilinogen in urine.Clinical chemistry, , Volume: 48, Issue:3, 2002
Molecular and biochemical studies of acute intermittent porphyria in 196 patients and their families.Clinical chemistry, , Volume: 48, Issue:11, 2002
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Network analysis of hydroxymethylbilane synthase dynamics.Journal of molecular graphics & modelling, , Volume: 99, 2020
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