heme has been researched along with Porphyria, Acute Intermittent in 103 studies
Timeframe | Studies, this research(%) | All Research% |
---|---|---|
pre-1990 | 8 (7.77) | 18.7374 |
1990's | 16 (15.53) | 18.2507 |
2000's | 29 (28.16) | 29.6817 |
2010's | 31 (30.10) | 24.3611 |
2020's | 19 (18.45) | 2.80 |
Authors | Studies |
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Erlandsen, EJ; Randers, E; Thomsen, HH; Østergaard, MGØ | 1 |
Bouchoule, I; Cerutti, D; Douillard, C; Duchêne, F; Dupré, T; Faivre, A; Fiorentino, V; Gouya, L; Grobost, V; Lefebvre, T; Manceau, H; Mirmiran, A; Moulouel, B; Peoc'h, K; Poli, A; Puy, H; Rivière, S; Schmitt, C; Talbi, N | 1 |
Harper, P; Sardh, E | 1 |
Córdoba, KM; Fontanellas, A; Jericó, D; Parra-Guillen, ZP; Trocóniz, IF; Vera-Yunca, D | 1 |
Larmann, J; Lederer, D; Weigand, MA | 1 |
Amaddeo, G; Bayard, Q; Blanc, JF; Calderaro, J; Letouzé, E; Ma, X; Molina, L; Trépo, E; Zhu, J; Zucman-Rossi, J | 1 |
Testai, FD; Wylie, K | 1 |
He, J; Huang, J; Xu, J; Yi, C | 1 |
Córdoba, KM; Ena, J; Enríquez de Salamanca, R; Fontanellas, A; Jericó, D; Morales-Conejo, M; Solares, I | 1 |
Balwani, M; Bonkovsky, HL; Lim, JK; Wang, B | 1 |
Airosa Pardal, A; Brito Avô, L; Coelho Rodrigues, I; Couto, E; Ferreira, F; Filipe, P; Moreira, S; Morgado, P; Oliveira, A; Pereira, L | 1 |
Anderson, KE; Balwani, M; Bissell, DM; Bonkovsky, HL; Desnick, RJ; Erwin, A; Keel, S; Levy, C; McGuire, B; Montgomery, GH; Naik, H; Overbey, JR; Phillips, JD; Wang, B; Winkel, G | 1 |
Beykirch, MK; Bronisch, O; Haverkamp, T; Petrides, PE; Stauch, T | 1 |
de Paula Brandão, PR; Titze-de-Almeida, R; Titze-de-Almeida, SS | 1 |
Fontanellas, A; Guey, LT; Hard, M; Jericó, D; Jiang, L; Martini, P; Parra-Guillen, ZP; Troconiz, IF; Vera-Yunca, D | 1 |
Anderson, KE; Chan, A; Desnick, RJ; Lahiji, AP; Ramanujam, VMS; Simon, A | 1 |
Fertrin, KY; Linenberger, M | 1 |
Aarsand, AK; Bustad, HJ; Fiorentino, V; Kallio, JP; Martinez, A; Sandberg, S; Schmitt, C; Vorland, M | 1 |
Aarsand, AK; Aguilera, P; Brunet, M; Deulofeu, R; García-Villoria, J; Gómez-Gómez, À; Pozo, OJ; Sandberg, S; To-Figueras, J; Wijngaard, R | 1 |
Beykirch, MK; Klein, M; Loehr, C; Molitor, B; Obermeier, Z; Petrides, PE; Schuhmann, E; Torkler, H | 1 |
Deguchi, K; Ikeda, K; Kamada, M; Kokudo, Y; Kume, K; Masaki, T; Takata, T; Touge, T | 1 |
Anderson, KE; Bissell, DM; Bonkovsky, HL | 1 |
Barman-Aksözen, J; Huber, LC; Minder, E; Senn, JD | 1 |
Batlle, AMDC; Buzaleh, AM; Gerez, EN; Lavandera, JV; Martínez, MDC; Oliveri, LM; Ruspini, SF; Zuccoli, JR | 1 |
Friesema, ECH; Koole-Lesuis, RH; Langendonk, JG; Mijnhout, GS; Neeleman, RA; Wagenmakers, MAEM; Wilson, JHP | 1 |
Alegre, M; Ávila, MA; Benenato, KE; Berraondo, P; Burke, K; Butcher, W; Fontanellas, A; Frassetto, A; Guey, LT; Jericó, D; Jiang, L; Kalariya, M; Kenney, M; Kumarasinghe, ES; Lukacs, CM; Martini, PGV; Park, JS; Pejenaute, Á; Sabnis, S; Salerno, T; Sampedro, A; Santamaría, E; Zhu, X | 1 |
Chen, B; Cody, N; Desnick, RJ; Loskove, Y; Nazarenko, I; Yasuda, M | 1 |
Deybach, JC; Gouya, L; Karim, Z; Manceau, H; Peoc'h, K; Puy, H; Wahlin, S | 1 |
Chen, B; Desnick, RJ; Yasuda, M | 1 |
Bonkovsky, HL; Desnick, RJ; Gan, L; Pulgar, VM; Yasuda, M | 1 |
Bonkovsky, HL; Dixon, N; Dozier, S; Faust, D; Li, T; Marion, B; Molina, A; Rudnick, S | 1 |
Chen, XY; Dong, XH; Li, Y; Wang, Y; Xu, F | 1 |
Phillips, JD | 1 |
Bonkovsky, HL; Caballes, FR; Finkielstein, CV; Groseclose, G; Hwang, SI; Larion, S; Lee, JG; Li, T; Maddukuri, V; Parsons, J; Rossman, WE; Steuerwald, N | 1 |
Albertyn, CH; Bryer, A; Corrigall, A; Heckmann, JM; Meissner, P; Sonderup, M | 1 |
Bissell, DM; Blanc, PD; Lai, JC; Meister, RK | 1 |
Hergüner, Ö; Mungan, NÖ; Nazoglu, S; Öktem, M; Turgut, M; Yildizdas, D; Yilmaz, BS | 1 |
Anderson, KE; Arvelakis, A; Balwani, M; Chen, B; Clavero, S; Desnick, RJ; Erwin, AL; Fiel, MI; Florman, SS; Gan, L; Gordon, RE; Kadirvel, S; Liu, LU; Martin, LD; Naik, H; Phillips, JD; Sadagoparamanujam, VM; Yasuda, M; Yu, C | 1 |
Dosi, R; Joshi, H; Patell, R; Shah, P; Tripathi, R | 1 |
Deybach, JC; Gouya, L; Martin-Schmitt, C; Peoc'h, K; Puy, H; Talbi, N | 1 |
Beaudry, MS; Burk-McCoy, E; Dustin, JP; He, X; Nadeau, LE; Neverett, ER; Pearson, BJ; Pellettieri, J; Stubenhaus, BM | 1 |
Balwani, M; Chen, B; Debnath, EM; Desnick, RJ; Doheny, D; Naik, H; Seth, A; Singh, P; Yasuda, M | 1 |
Capó, X; Carrera-Quintanar, L; Ferrer, MD; García-Diz, L; Jiménez-Monreal, AM; Martínez-Tomé, M; Mestre-Alfaro, A; Murcia, MA; Pons, A; Roche, E; Tur, JA | 1 |
Bonkovsky, HL; Donohue, SE; Lambrecht, RW; Shan, Y; Zheng, J | 1 |
Andersson, DE; Floderus, Y; Harper, P; Sardh, E | 1 |
Cappellini, MD; Rocchi, E; Ventura, P | 1 |
Brosche, C; Doss, MO; Koszka, C; Stauch, T; Stölzel, U; Teubner, A | 1 |
Arnardottir, S; Asgeirsson, H; Birgisdottir, BT; Jonsson, JJ; Vidarsson, B | 1 |
Marsden, JT; Rees, DC | 1 |
Brun, A; Hift, RJ; Thunell, S | 1 |
Kiernan, MC; Lee, MJ; Lin, CS; Park, SB | 1 |
Enríquez de Salamanca, R; Fontanellas, A; Harper, P; Mauleón, I; Prieto, J; Salido, E; Sampedro, A; Sardh, E; Unzu, C | 1 |
Badminton, MN; Barth, JH; Cox, TM; Rees, DC; Sarkany, R; Stein, PE; Stewart, MF | 1 |
Faut, M; Mazzetti, MB; Paiz, A; San Martín de Viale, LC | 1 |
Andersson, C; Bäckström, T; Nilsson, A | 1 |
Biolcati, G; Cappellini, MD; Danielli, MG; Di Pierro, E; Martinez di Montemuros, F; Patti, E; Rocchi, E; Tavazzi, D | 1 |
Karpova, IV; Luchinina, IuA; Luk'ianenko, AV; Pivnik, AV; Pustovoĭt, IaS; Surin, VL | 1 |
Harper, P; Johansson, A; Möller, C | 1 |
CANIVET, J | 1 |
Hasui, Y; Ikeda, M; Tanabe, H | 1 |
Hift, RJ; Meissner, PN | 1 |
Bozek, P; Buranová, D; Kollár, B; Mikulecký, M; Traubner, P; Varsik, P | 1 |
Chen, WJ; Fang, CC; Lai, TI; Lien, WC; Liu, YP; Wang, HP | 1 |
Herrick, AL; McColl, KE | 1 |
Lelli, SM; Mazzetti, MB; San Martín de Viale, LC | 1 |
Florkowski, C; George, P; Potter, H; Sies, C | 1 |
Cherem, JH; Malagon, J; Nellen, H | 1 |
Bonkovsky, HL | 1 |
Badminton, MN; Deybach, JC | 1 |
Bianketti, J; Gregor, A; Lipniacka, A; Szlendak, U | 1 |
Jordan, PM; Lambert, R; Wood, S | 1 |
Feder, ZM; Ignashina, EV; Karpova, IV; Kravchenko, SK; Kremenetskaia, AM; Kurtser, MA; Mironova, TS; Murashko, LE; Petrova, VI; Pustovoĭt, IaS; Pustovoĭt, LA; Shmakov, RG; Shtabnitskiĭ, AM; Sokolova, MIu | 1 |
Borie, MJ; Chauvet, MA; Corcia, P; Diot, E; Maillot, F; Zannad, N | 1 |
Flachsová, E; Martásek, P; Raman, CS; Saudek, V; Saxena, R; Ulbrichová, D; Verma, IC; Zeman, J | 1 |
Romeo, G | 1 |
Fuchs, T; Ippen, H | 1 |
Sugimura, K | 1 |
Batlle, AM; Caballero, FA; Gerez, EN; Polo, CF; Vázquez, ES | 1 |
Astrin, KH; Desnick, RJ | 1 |
Elder, GH | 1 |
Bharathi, KC; Mamatha, P; Muthane, UB; Vengamma, B | 1 |
Baudry, P; Callebert, J; Deybach, JC; Nordmann, Y; Puy, H; Touitou, Y | 1 |
Mustajoki, P; Nordmann, Y | 1 |
Baumgartner, M; Bogdan, A; Callebert, J; Deybach, JC; Nordmann, Y; Puy, H; Touitou, Y; Voisin, P | 1 |
Schreiber, WE | 1 |
Bechara, EJ | 1 |
Doss, MO; Frank, M; Gross, U; Jacob, K | 1 |
Andersson, C; Bjersing, L; Lithner, F | 1 |
Deybach, JC; Doss, MO; Frank, M; Gross, U; Jacob, K; Nordmann, Y; Sassa, S | 1 |
Bogard, C; Deybach, JC | 1 |
Daimon, M; Hirata, A; Kato, T; Kitagawa, M; Manaka, H; Morita, Y; Sasaki, H; Susa, S | 1 |
Daimon, M; Igarashi, M; Kameda, W; Kato, T; Susa, S | 1 |
Hoffmann, F; Lindberg, RL; Meyer, UA; Schuurmans, MM | 1 |
Elder, GH; Hift, RJ | 1 |
Benestad, Y; Brun, A; Danielsen, OK; Iversen, IR; Sandberg, S; Skadberg, Ø | 1 |
Brekke, OL; Nielsen, EW; Tollåli, G | 1 |
Badminton, MN; Elder, GH | 1 |
Charles, HP; McConville, ML | 1 |
Meyer, UA | 1 |
Doss, MO | 1 |
Billett, HH | 1 |
Rimington, C | 1 |
32 review(s) available for heme and Porphyria, Acute Intermittent
Article | Year |
---|---|
RNAi therapy with givosiran significantly reduces attack rates in acute intermittent porphyria.
Topics: Acetylgalactosamine; Adolescent; Adult; Heme; Humans; Incidence; Porphobilinogen Synthase; Porphyria, Acute Intermittent; Porphyrias, Hepatic; Pyrrolidines; Quality of Life; RNAi Therapeutics | 2022 |
Neurological Manifestations of Acute Porphyrias.
Topics: Heme; Humans; Neuralgia; Porphyria, Acute Intermittent; Porphyrias; Porphyrias, Hepatic; Posterior Leukoencephalopathy Syndrome | 2022 |
Understanding Carbohydrate Metabolism and Insulin Resistance in Acute Intermittent Porphyria.
Topics: Aminolevulinic Acid; Animals; Carbohydrate Metabolism; Glucose; Heme; Humans; Hydroxymethylbilane Synthase; Insulin; Insulin Resistance; Mice; Porphobilinogen; Porphyria, Acute Intermittent | 2022 |
AGA Clinical Practice Update on Diagnosis and Management of Acute Hepatic Porphyrias: Expert Review.
Topics: Abdominal Pain; Aminolevulinic Acid; Antiemetics; Carcinoma, Hepatocellular; Creatinine; Female; Heme; Hemin; Humans; Hypertension; Liver Neoplasms; Middle Aged; Porphobilinogen; Porphobilinogen Synthase; Porphyria, Acute Intermittent; Porphyrias, Hepatic; Quality of Life; Renal Insufficiency, Chronic; United States | 2023 |
Leading RNA Interference Therapeutics Part 2: Silencing Delta-Aminolevulinic Acid Synthase 1, with a Focus on Givosiran.
Topics: Acetylgalactosamine; Clinical Trials as Topic; Drug Development; Gene Silencing; Genetic Therapy; Heme; Humans; Nitric Oxide Synthase Type I; Porphyria, Acute Intermittent; Pyrrolidines; RNA Interference; RNA, Small Interfering; Treatment Outcome | 2020 |
Acute Intermittent Porphyria: An Overview of Therapy Developments and Future Perspectives Focusing on Stabilisation of HMBS and Proteostasis Regulators.
Topics: Alleles; Animals; Combined Modality Therapy; Disease Management; Disease Susceptibility; Genetic Predisposition to Disease; Heme; Humans; Hydroxymethylbilane Synthase; Metabolic Networks and Pathways; Mutation; Porphyria, Acute Intermittent; Structure-Activity Relationship; Treatment Outcome | 2021 |
Porphyria.
Topics: Female; Heme; Hemin; Humans; Male; Phlebotomy; Porphobilinogen; Porphyria Cutanea Tarda; Porphyria, Acute Intermittent; Porphyrins; Prognosis; Protoporphyria, Erythropoietic; RNA, Small Interfering; Sunlight; Symptom Assessment | 2017 |
[CME: Acute Intermittent Porphyria: When to Think of It? What Must be Checked? How to Treat?]
Topics: Arginine; Combined Modality Therapy; Diagnosis, Differential; Female; Genetic Predisposition to Disease; Heme; Hemin; Humans; Interdisciplinary Communication; Intersectoral Collaboration; Middle Aged; Porphobilinogen; Porphyria, Acute Intermittent; Prognosis; Recurrence; Risk Factors | 2018 |
Recent advances on porphyria genetics: Inheritance, penetrance & molecular heterogeneity, including new modifying/causative genes.
Topics: Biosynthetic Pathways; Gain of Function Mutation; Gene Expression Regulation; Heme; Humans; Loss of Function Mutation; Penetrance; Porphobilinogen Synthase; Porphyria, Acute Intermittent; Porphyrias; Porphyrias, Hepatic; Protoporphyria, Erythropoietic | 2019 |
Heme biosynthesis and the porphyrias.
Topics: Animals; Biosynthetic Pathways; Environment; Heme; Humans; Liver; Mice; Mutation; Porphobilinogen Synthase; Porphyria, Acute Intermittent; Porphyrias; Porphyrias, Hepatic; Uroporphyrinogen Decarboxylase | 2019 |
[Porphyrias and haem related disorders].
Topics: Genetic Diseases, Inborn; Hematologic Diseases; Heme; Humans; Porphyria, Acute Intermittent; Porphyrias | 2016 |
Acute Intermittent Porphyria in children: A case report and review of the literature.
Topics: Child; Female; Genetic Testing; Heme; Humans; Hydroxymethylbilane Synthase; Male; Mutation; Porphobilinogen; Porphyria, Acute Intermittent; RNA Splice Sites; Seizures | 2016 |
[Acute abdominal pain caused by acute intermittent porphyria - case report and review of the literature].
Topics: Abdominal Pain; Carbohydrates; Female; Heme; Hemin; Humans; Porphyria, Acute Intermittent | 2010 |
Drugs in porphyria: From observation to a modern algorithm-based system for the prediction of porphyrogenicity.
Topics: 5-Aminolevulinate Synthetase; Algorithms; Animals; Cytochrome P-450 Enzyme System; Drug-Related Side Effects and Adverse Reactions; Heme; Humans; Liver; Porphyria, Acute Intermittent | 2011 |
Purple pigments: the pathophysiology of acute porphyric neuropathy.
Topics: Animals; Heme; Humans; Hydroxymethylbilane Synthase; Mice; Mutation; Peripheral Nervous System Diseases; Pigments, Biological; Porphyria, Acute Intermittent | 2011 |
[Porphyria].
Topics: 5-Aminolevulinate Synthetase; Analgesics, Opioid; Antipsychotic Agents; Arginine; Benzodiazepines; Ferrochelatase; Haloperidol; Heme; Humans; Hydroxymethylbilane Synthase; Olanzapine; Pirenzepine; Plasma Exchange; Porphyria, Acute Intermittent; Prognosis | 2003 |
Acute intermittent porphyria.
Topics: Abdominal Pain; Adult; Aminolevulinic Acid; Cytochrome P-450 Enzyme System; Erythrocytes; Female; Heme; Humans; Porphobilinogen; Porphyria, Acute Intermittent | 2005 |
Clinical indications for the investigation of porphyria: case examples and evolving laboratory approaches to its diagnosis in New Zealand.
Topics: Adult; Aged, 80 and over; Biomarkers; Child, Preschool; Clinical Laboratory Techniques; Coproporphyria, Hereditary; Female; Heme; Humans; Male; Middle Aged; Porphyria Cutanea Tarda; Porphyria, Acute Intermittent; Porphyria, Erythropoietic; Porphyria, Variegate; Porphyrias; Porphyrins; Protoporphyria, Erythropoietic | 2005 |
Molecular basis of acute intermittent porphyria.
Topics: Amino Acid Sequence; Heme; Hydroxymethylbilane Synthase; Models, Molecular; Molecular Sequence Data; Molecular Structure; Mutation; Porphyria, Acute Intermittent; Protein Conformation; Sequence Homology, Amino Acid | 1995 |
The hepatic porphyrias.
Topics: 5-Aminolevulinate Synthetase; Acute Disease; Adolescent; Adult; Aminolevulinic Acid; Chemical Phenomena; Chemistry; Child; Child, Preschool; Female; Gene Expression Regulation; Heme; Humans; Infant; Liver; Liver Diseases; Male; Middle Aged; Photosensitivity Disorders; Porphobilinogen; Porphyria, Acute Intermittent; Porphyrias; Porphyrias, Hepatic; Porphyrins; Prenatal Diagnosis; Protoporphyria, Erythropoietic; Recurrence; Skin Diseases | 1980 |
[Acute intermittent porphyria].
Topics: Female; Glucose; Heme; Humans; Nervous System; Porphyria, Acute Intermittent; Prognosis | 1995 |
Molecular basis of acute intermittent porphyria: mutations and polymorphisms in the human hydroxymethylbilane synthase gene.
Topics: Chromosome Mapping; DNA Mutational Analysis; Heme; Humans; Hydroxymethylbilane Synthase; Mutation; Polymorphism, Genetic; Porphyria, Acute Intermittent | 1994 |
Molecular genetics of disorders of haem biosynthesis.
Topics: Anemia, Sideroblastic; Genes, Dominant; Genes, Recessive; Heme; Humans; Porphyria, Acute Intermittent; Porphyrias | 1993 |
Acute intermittent porphyria: laboratory diagnosis by molecular methods.
Topics: DNA Mutational Analysis; Erythrocytes; Genetic Linkage; Genetic Testing; Heme; Humans; Hydroxymethylbilane Synthase; Mutation; Polymorphism, Genetic; Porphyria, Acute Intermittent; Porphyrias, Hepatic; Specimen Handling | 1995 |
Oxidative stress in acute intermittent porphyria and lead poisoning may be triggered by 5-aminolevulinic acid.
Topics: Aminolevulinic Acid; Animals; Calcium; DNA Damage; Heme; Humans; Iron; Lead Poisoning; Lipid Peroxidation; Mitochondria; Oxidative Stress; Porphyria, Acute Intermittent; Porphyrias; Proteins; Rats; Reactive Oxygen Species | 1996 |
[Porphyrins and porphyrias].
Topics: Animals; Chick Embryo; Child; Female; Heme; Hemochromatosis; Hepatitis C; Heterozygote; Humans; Hydroxymethylbilane Synthase; Iron; Male; Middle Aged; Mutation; Porphyria, Acute Intermittent; Porphyrias; Porphyrins; Retrospective Studies; Transcription, Genetic; Uroporphyrinogen Decarboxylase | 1998 |
Treatment of acute porphyria.
Topics: Adolescent; Adult; Analgesics, Opioid; Arginine; Clinical Trials as Topic; Dietary Carbohydrates; Female; Heme; Humans; Male; Porphobilinogen; Porphyria, Acute Intermittent; Pregnancy; Pregnancy Complications; Treatment Outcome | 2001 |
[Acute intermittent porphyria].
Topics: Female; Heme; Humans; Male; Norway; Porphyria, Acute Intermittent; Pregnancy | 2002 |
Management of acute and cutaneous porphyrias.
Topics: Arginine; beta Carotene; Chloroquine; Estrogens; Ethanol; Heme; Humans; Phlebotomy; Porphyria Cutanea Tarda; Porphyria, Acute Intermittent; Porphyrias; Sunlight | 2002 |
Hepatic porphyrias: new findings on the nature of metabolic defects.
Topics: 5-Aminolevulinate Synthetase; Acute Disease; Animals; Erythrocytes; Heme; Humans; Liver; Liver Diseases; Porphyria, Acute Intermittent; Porphyrias; Porphyrins; Rats | 1976 |
Porphyrias: inborn errors in heme production.
Topics: Female; Heme; Humans; Liver Diseases; Male; Porphyria, Acute Intermittent; Porphyrias; Skin Diseases; Uroporphyrinogen Decarboxylase | 1988 |
A review of the enzymic errors in the various porphyrias.
Topics: 5-Aminolevulinate Synthetase; Flavoproteins; Heme; Humans; Liver Diseases; Mitochondrial Proteins; Oxidoreductases; Oxidoreductases Acting on CH-CH Group Donors; Porphobilinogen Synthase; Porphyria, Acute Intermittent; Porphyria, Erythropoietic; Porphyrias; Porphyrias, Hepatic; Porphyrins; Protoporphyria, Erythropoietic; Protoporphyrinogen Oxidase; Skin Diseases; Uroporphyrinogen Decarboxylase | 1985 |
3 trial(s) available for heme and Porphyria, Acute Intermittent
Article | Year |
---|---|
Evaluating the Patient-Reported Outcomes Measurement Information System scales in acute intermittent porphyria.
Topics: Adolescent; Adult; Aged; Anxiety; Depression; Fatigue; Female; Heme; Humans; Longitudinal Studies; Male; Middle Aged; Patient Reported Outcome Measures; Porphyria, Acute Intermittent; Quality of Life; Severity of Illness Index; Sleep Wake Disorders; Young Adult | 2020 |
Acute porphyrias: a German monocentric study of the biochemical, molecular genetic, and clinical data of 62 families.
Topics: Adult; Anxiety; Arginine; Depression; Family; Female; Germany; Heme; Hospitalization; Humans; Male; Porphyria, Acute Intermittent; Prospective Studies; Quality of Life; Surveys and Questionnaires | 2019 |
Plasma porphobilinogen as a sensitive biomarker to monitor the clinical and therapeutic course of acute intermittent porphyria attacks.
Topics: Acute Disease; Adult; Aminolevulinic Acid; Arginine; Biomarkers; Chromatography, Ion Exchange; Drug Monitoring; Female; Glucose; Heme; Humans; Male; Porphobilinogen; Porphyria, Acute Intermittent; Sensitivity and Specificity | 2009 |
68 other study(ies) available for heme and Porphyria, Acute Intermittent
Article | Year |
---|---|
Peritoneal dialysis resulting in discontinuance of recurring attacks of acute intermittent porphyria: A case report.
Topics: Aged; Heme; Humans; Male; Pain; Peritoneal Dialysis; Porphobilinogen; Porphyria, Acute Intermittent; Recurrence; Renal Dialysis | 2022 |
Givosiran in acute intermittent porphyria: A personalized medicine approach.
Topics: Acetylgalactosamine; Acute Disease; Heme; Humans; Pancreatitis; Porphyria, Acute Intermittent; Precision Medicine; Pyrrolidines; Retrospective Studies | 2022 |
Mechanistic modelling of enzyme-restoration effects of new recombinant liver-targeted proteins in acute intermittent porphyria.
Topics: Aminolevulinic Acid; Animals; Disease Models, Animal; Heme; Mice; Mice, Inbred C57BL; Porphyria, Acute Intermittent; Recombinant Proteins | 2022 |
[Anesthesia in patients with acute porphyria].
Topics: Anesthesia; Heme; Humans; Porphyria, Acute Intermittent; Porphyrias; Porphyrias, Hepatic | 2022 |
Bi-allelic hydroxymethylbilane synthase inactivation defines a homogenous clinico-molecular subtype of hepatocellular carcinoma.
Topics: beta Catenin; Carcinoma, Hepatocellular; Female; Heme; Humans; Hydroxymethylbilane Synthase; Liver Neoplasms; Mutation; Oxygen; Porphobilinogen; Porphyria, Acute Intermittent | 2022 |
Long-term Remission of Acute Intermittent Porphyria Treated with Gonadotropin-Releasing Hormone Analogues and Estrogen: a Case Report.
Topics: Adult; Estrogens; Female; Gonadotropin-Releasing Hormone; Heme; Humans; Hydroxymethylbilane Synthase; Immunologic Factors; Porphyria, Acute Intermittent; Young Adult | 2022 |
Portuguese Consensus on Acute Porphyrias: Diagnosis, Treatment, Monitoring and Patient Referral.
Topics: Consensus; Heme; Humans; Porphyria, Acute Intermittent; Portugal; Quality of Life; Referral and Consultation | 2023 |
Disease pharmacokinetic-pharmacodynamic modelling in acute intermittent porphyria to support the development of mRNA-based therapies.
Topics: Animals; Heme; Hydroxymethylbilane Synthase; Mice; Porphyria, Acute Intermittent; Rabbits; Rats; RNA, Messenger | 2020 |
5-Aminolevulinate dehydratase porphyria: Update on hepatic 5-aminolevulinic acid synthase induction and long-term response to hemin.
Topics: 5-Aminolevulinate Synthetase; Adolescent; Adult; Child; Child, Preschool; Female; Heme; Hemin; Humans; Infant; Infant, Newborn; Liver; Male; Middle Aged; Mutation; Porphobilinogen; Porphobilinogen Synthase; Porphyria, Acute Intermittent; Porphyrias, Hepatic; RNA, Messenger; Young Adult | 2020 |
Updates on the diagnosis and management of the most common hereditary porphyrias: AIP and EPP.
Topics: Adult; Disease Management; Female; Heme; Humans; Mutation; Porphyria, Acute Intermittent; Protoporphyria, Erythropoietic; Young Adult | 2020 |
Dysregulation of homocysteine homeostasis in acute intermittent porphyria patients receiving heme arginate or givosiran.
Topics: Acetylgalactosamine; Adult; Arginine; Cystathionine beta-Synthase; Female; Folic Acid; Heme; Homeostasis; Homocysteine; Homocystinuria; Humans; Hydroxymethylbilane Synthase; Hyperhomocysteinemia; Male; Methionine; Middle Aged; Porphyria, Acute Intermittent; Pyridoxal Phosphate; Pyrrolidines; Young Adult | 2021 |
Severe homocysteinemia in two givosiran-treated porphyria patients: is free heme deficiency the culprit?
Topics: 5-Aminolevulinate Synthetase; Acetylgalactosamine; Adult; Arginine; Colitis; Colon, Sigmoid; Controlled Clinical Trials as Topic; Drug Hypersensitivity; Female; Fibrosis; Heme; Hepatocytes; High-Throughput Nucleotide Sequencing; Homocysteine; Humans; Hydroxymethylbilane Synthase; Hyperhomocysteinemia; Male; Models, Biological; Pancreatitis; Porphyria, Acute Intermittent; Pyrrolidines | 2021 |
Acute Intermittent Porphyria Presenting with Posterior Reversible Encephalopathy Syndrome, Accompanied by Prolonged Vasoconstriction.
Topics: Arginine; Female; Heme; Humans; Magnetic Resonance Angiography; Magnetic Resonance Imaging; Porphyria, Acute Intermittent; Posterior Leukoencephalopathy Syndrome; Young Adult | 2017 |
Effects of volatile anaesthetics on heme metabolism in a murine genetic model of Acute Intermittent Porphyria. A comparative study with other porphyrinogenic drugs.
Topics: Anesthetics; Animals; Female; Heme; Hydroxymethylbilane Synthase; Male; Mice; Mice, Inbred C57BL; Mice, Knockout; Models, Genetic; Porphobilinogen; Porphyria, Acute Intermittent; Volatile Organic Compounds | 2018 |
Medical and financial burden of acute intermittent porphyria.
Topics: Adolescent; Adult; Carcinoma, Hepatocellular; Case-Control Studies; Cost of Illness; Female; Health Care Costs; Heme; Hospitalization; Humans; Hypertension; Liver Neoplasms; Longitudinal Studies; Male; Middle Aged; Netherlands; Porphyria, Acute Intermittent; Quality of Life; Renal Insufficiency, Chronic; Retrospective Studies; Surveys and Questionnaires; Young Adult | 2018 |
Systemic messenger RNA as an etiological treatment for acute intermittent porphyria.
Topics: Animals; Disease Models, Animal; Female; Genetic Therapy; Haploinsufficiency; Heme; Hepatocytes; Humans; Hydroxymethylbilane Synthase; Liver; Male; Porphyria, Acute Intermittent; RNA, Messenger | 2018 |
Acute hepatic porphyrias: Identification of 46 hydroxymethylbilane synthase, 11 coproporphyrinogen oxidase, and 20 protoporphyrinogen oxidase novel mutations.
Topics: Asymptomatic Diseases; Coproporphyrinogen Oxidase; Family; Genetic Heterogeneity; Heme; Humans; Hydroxymethylbilane Synthase; Molecular Diagnostic Techniques; Mutation; Porphyria, Acute Intermittent; Protoporphyrinogen Oxidase | 2019 |
Hepatocellular carcinoma in acute hepatic porphyrias: A Damocles Sword.
Topics: Biomarkers; Carcinoma, Hepatocellular; Female; Heme; Humans; Incidence; Liver Neoplasms; Male; Middle Aged; Norway; Porphobilinogen Synthase; Porphyria, Acute Intermittent; Porphyrias, Hepatic; Risk Factors; Sweden | 2019 |
Sex differences in vascular reactivity in mesenteric arteries from a mouse model of acute intermittent porphyria.
Topics: Acetylcholine; Animals; Disease Models, Animal; Female; Heme; Hydroxymethylbilane Synthase; Male; Mesenteric Arteries; Mice; Mice, Inbred C57BL; Phenobarbital; Phenylephrine; Porphyria, Acute Intermittent; Sex Factors; Vasodilation | 2019 |
Pilot study of mitochondrial bioenergetics in subjects with acute porphyrias.
Topics: Adenosine Triphosphate; Adult; Aged; Aged, 80 and over; Blood Platelets; Coproporphyria, Hereditary; Electron Transport; Energy Metabolism; Female; Heme; Humans; Infant; Leukocytes, Mononuclear; Male; Middle Aged; Mitochondria; Oxygen; Pilot Projects; Porphyria, Acute Intermittent | 2019 |
[Clinical characteristics of 50 patients with acute intermittent porphyria].
Topics: Abdominal Pain; Adult; Female; Heme; Humans; Hydroxymethylbilane Synthase; Male; Mutation; Porphyria, Acute Intermittent; Retrospective Studies; Young Adult | 2019 |
Circadian rhythms in acute intermittent porphyria--a pilot study.
Topics: 5-Aminolevulinate Synthetase; Adult; Aged; Case-Control Studies; Circadian Clocks; Circadian Rhythm; Female; Heme; Humans; Hydrocortisone; Melatonin; Middle Aged; Pilot Projects; Porphobilinogen; Porphyria, Acute Intermittent; RNA, Messenger | 2013 |
Acute intermittent porphyria presenting as progressive muscular atrophy in a young black man.
Topics: Arginine; Heme; Humans; Hydroxymethylbilane Synthase; Male; Muscular Atrophy, Spinal; Porphyria, Acute Intermittent; Young Adult | 2014 |
Role of delta-aminolevulinic acid in the symptoms of acute porphyria.
Topics: Abdominal Pain; Adult; Aminolevulinic Acid; Chelation Therapy; Diagnosis, Differential; Female; Heme; Humans; Lead Poisoning; Medicine, Ayurvedic; Neuralgia; Porphyria, Acute Intermittent; Treatment Outcome; Tyrosinemias | 2015 |
A 17-year-old girl with chronic intermittent abdominal pain. Acute intermittent porphyria.
Topics: Abdominal Pain; Adolescent; Arginine; Cholelithiasis; Chronic Disease; Diagnosis, Differential; Female; Heme; Humans; Porphyria, Acute Intermittent; Porphyrins; Tomography, X-Ray Computed | 2015 |
Liver Transplantation for Acute Intermittent Porphyria: Biochemical and Pathologic Studies of the Explanted Liver.
Topics: 5-Aminolevulinate Synthetase; Adult; Aminolevulinic Acid; Female; Heme; Humans; Hydroxymethylbilane Synthase; Liver; Liver Transplantation; Porphobilinogen; Porphyria, Acute Intermittent; RNA, Messenger; Uroporphyrins | 2015 |
Challenges in the successful management of a case of acute intermittent porphyria in India.
Topics: Abdominal Pain; Administration, Intravenous; Adolescent; Arginine; Heme; Humans; India; Male; Porphobilinogen; Porphyria, Acute Intermittent; Seizures; Treatment Outcome | 2016 |
Light-induced depigmentation in planarians models the pathophysiology of acute porphyrias.
Topics: Animals; Disease Models, Animal; Gene Expression Regulation; Helminth Proteins; Heme; Humans; Light; Phenothiazines; Pigments, Biological; Planarians; Porphyria, Acute Intermittent; Porphyrins; Skin Pigmentation; Starvation | 2016 |
Haem Biosynthesis and Antioxidant Enzymes in Circulating Cells of Acute Intermittent Porphyria Patients.
Topics: Blotting, Western; Case-Control Studies; Erythrocytes; Female; Gene Expression; Heme; Humans; Hydroxymethylbilane Synthase; Leukocytes; Male; Oxidative Stress; Porphyria, Acute Intermittent; Porphyria, Variegate; Protoporphyrinogen Oxidase; Real-Time Polymerase Chain Reaction | 2016 |
Differential regulation of human ALAS1 mRNA and protein levels by heme and cobalt protoporphyrin.
Topics: 5-Aminolevulinate Synthetase; Cell Line, Tumor; Cycloheximide; Dactinomycin; Down-Regulation; Gene Expression Regulation, Enzymologic; Half-Life; Heme; Hepatocytes; Humans; Mitochondrial Proteins; Nucleic Acid Synthesis Inhibitors; Porphyria, Acute Intermittent; Protein Synthesis Inhibitors; Protoporphyrins; RNA, Messenger | 2008 |
The acute porphyrias: a diagnostic and therapeutic challenge in internal and emergency medicine.
Topics: Arginine; Diagnostic Errors; Emergency Medicine; Heme; Humans; Internal Medicine; Porphyria, Acute Intermittent | 2009 |
Safe and probably safe drugs in acute hepatic porphyria.
Topics: 5-Aminolevulinate Synthetase; Arginine; Drug-Related Side Effects and Adverse Reactions; Heme; Humans; Liver Transplantation; Porphyria, Acute Intermittent | 2009 |
A retrospective analysis of outcome of pregnancy in patients with acute porphyria.
Topics: Abortion, Spontaneous; Adolescent; Adult; Arginine; Child; Female; Heme; Humans; Live Birth; London; Middle Aged; Porphyria, Acute Intermittent; Pregnancy; Pregnancy Complications; Retrospective Studies; Surveys and Questionnaires; Time Factors; Treatment Outcome; Young Adult | 2010 |
Renal failure affects the enzymatic activities of the three first steps in hepatic heme biosynthesis in the acute intermittent porphyria mouse.
Topics: Aminolevulinic Acid; Animals; Disease Models, Animal; Enzyme Activation; Female; Heme; Hydroxymethylbilane Synthase; Kidney Function Tests; Liver; Male; Mice; Mice, Inbred C57BL; Nephrectomy; Porphyria, Acute Intermittent; Porphyrinogens; Porphyrins; Renal Insufficiency; Sex Factors | 2012 |
Acute intermittent porphyria: fatal complications of treatment.
Topics: Abdominal Pain; Adolescent; Analgesics; Arginine; Disease Management; Fatal Outcome; Female; Hallucinations; Heme; Humans; Hyponatremia; Monitoring, Physiologic; Porphobilinogen; Porphyria, Acute Intermittent; Water-Electrolyte Balance | 2012 |
Alterations of the redox state, pentose pathway and glutathione metabolism in an acute porphyria model. Their impact on heme pathway.
Topics: Allylisopropylacetamide; Animals; Disease Models, Animal; Glucose; Glucosephosphate Dehydrogenase; Glutathione; Glutathione Disulfide; Glutathione Peroxidase; Glutathione Reductase; Glutathione Transferase; Heme; Liver; NADP; Oxidation-Reduction; Oxidative Stress; Pentose Phosphate Pathway; Porphyria, Acute Intermittent; Pyridines; Rats; Reactive Oxygen Species | 2013 |
["Acute intermittent porphyria" diagnosis. An odyssey in diagnosis].
Topics: Abdominal Pain; Arginine; Colic; Diagnosis, Differential; Heme; Humans; Porphyria, Acute Intermittent | 2002 |
Atypical attack of acute intermittent porphyria--paresis but no abdominal pain.
Topics: Abdominal Pain; Adult; Arginine; Disease Progression; Estradiol; Female; Heme; Humans; Hysterectomy; Middle Aged; Ovariectomy; Paresis; Periodicity; Porphyria, Acute Intermittent; Progesterone; Recurrence | 2002 |
Molecular characterization of porphyrias in Italy: a diagnostic flow-chart.
Topics: DNA; Ferrochelatase; Flavoproteins; Heme; Humans; Hydroxymethylbilane Synthase; Italy; Mitochondrial Proteins; Mutation; Oxidoreductases; Oxidoreductases Acting on CH-CH Group Donors; Polymerase Chain Reaction; Polymorphism, Single-Stranded Conformational; Porphyria Cutanea Tarda; Porphyria, Acute Intermittent; Porphyria, Hepatoerythropoietic; Porphyrias; Porphyrias, Hepatic; Porphyrins; Protoporphyrinogen Oxidase; Reverse Transcriptase Polymerase Chain Reaction; Risk Factors; Sensitivity and Specificity; Spectrometry, Fluorescence; Uroporphyrinogen Decarboxylase | 2002 |
[Clinical manifestations of porphyrin metabolism disorders].
Topics: Acute Disease; Adolescent; Adult; Arginine; Chronic Disease; Female; Heme; Humans; Inosine Diphosphate; Middle Aged; Octreotide; Plasmapheresis; Porphyria, Acute Intermittent; Porphyria, Erythropoietic; Porphyrias; Porphyrins | 2003 |
Correction of the biochemical defect in porphobilinogen deaminase deficient cells by non-viral gene delivery.
Topics: Aminolevulinic Acid; Animals; Chromatography, High Pressure Liquid; Fibroblasts; Gene Transfer Techniques; Genetic Techniques; Genetic Vectors; Heme; Humans; Hydroxymethylbilane Synthase; Mice; Photosensitizing Agents; Plasmids; Porphyria, Acute Intermittent; Protoporphyrins; Time Factors; Transfection | 2003 |
[NEW DATA ON THE PHYSIOPATHOGENESIS OF ACUTE PORPHYRIA].
Topics: Biochemical Phenomena; Biochemistry; Classification; Heme; Humans; Isomerases; Pathology; Physiology; Porphyria, Acute Intermittent; Porphyrias; Porphyrins | 1964 |
An analysis of 112 acute porphyric attacks in Cape Town, South Africa: Evidence that acute intermittent porphyria and variegate porphyria differ in susceptibility and severity.
Topics: Abdominal Pain; Acute Disease; Adult; Age Factors; Arginine; Epidemiologic Methods; Female; Heme; Humans; Hypertension; Male; Porphyria, Acute Intermittent; Porphyria, Variegate; Precipitating Factors; Psychotic Disorders; Remission, Spontaneous; Sex Factors; South Africa; Tachycardia | 2005 |
Familial occurrence of myoclonic epilepsy syndrome and acute intermittent porphyria.
Topics: Adolescent; Adult; Anticonvulsants; Brain; Child; Electroencephalography; Epilepsies, Myoclonic; Female; Heme; Humans; Hydroxymethylbilane Synthase; Male; Porphyria, Acute Intermittent; Porphyrins | 2005 |
ED presentation of acute porphyria.
Topics: Abdominal Pain; Adolescent; Adult; Age of Onset; Analgesia; Arginine; Diagnostic Errors; Emergency Medicine; Emergency Service, Hospital; Female; Glucose; Heme; Humans; Hyponatremia; Infusions, Intravenous; Male; Middle Aged; Porphyria, Acute Intermittent; Retrospective Studies; Seizures; Taiwan; Treatment Outcome | 2005 |
Response of glucose metabolism enzymes in an acute porphyria model. Role of reactive oxygen species.
Topics: Allylisopropylacetamide; Animals; Dicarbethoxydihydrocollidine; Disease Models, Animal; Female; Glucose; Heme; Lipid Peroxidation; Liver; Luminescent Measurements; Porphyria, Acute Intermittent; Rats; Rats, Wistar; Reactive Oxygen Species; Urine | 2005 |
Cimetidine and acute intermittent porphyria.
Topics: 5-Aminolevulinate Synthetase; Adult; Cimetidine; Female; Heme; Humans; Porphyria, Acute Intermittent | 2005 |
Neurovisceral porphyrias: what a hematologist needs to know.
Topics: Coproporphyria, Hereditary; Erythrocytes; Heme; Humans; Porphobilinogen Synthase; Porphyria, Acute Intermittent; Porphyrias | 2005 |
Treatment of an acute attack of porphyria during pregnancy.
Topics: Abortion, Induced; Arginine; Female; Heme; Humans; Porphyria, Acute Intermittent; Pregnancy; Pregnancy Complications, Infectious | 2006 |
[Acute intermittent porphyria and oral contraception. Case report].
Topics: Adult; Arginine; Contraceptives, Oral, Synthetic; Desogestrel; Female; Glucose; Heme; Humans; Porphyria, Acute Intermittent; Saline Solution, Hypertonic; Treatment Outcome | 2006 |
[Management of pregnancy in women with acute porphyria. Case reports].
Topics: Adult; Arginine; Female; Follow-Up Studies; Heme; Humans; Infant, Newborn; Male; Porphobilinogen; Porphyria, Acute Intermittent; Porphyrins; Pregnancy; Pregnancy Complications; Pregnancy Outcome; Risk Factors | 2007 |
[Favorable outcome of acute porphyric neuropathy after treatment with heme arginate].
Topics: Adult; Arginine; Electrodiagnosis; Electrophysiology; Female; Heme; Humans; Laparoscopy; Motor Neuron Disease; Nervous System Diseases; Neural Conduction; Ovarian Cysts; Peripheral Nerves; Porphyria, Acute Intermittent; Postoperative Complications; Quadriplegia | 2007 |
A new mutation within the porphobilinogen deaminase gene leading to a truncated protein as a cause of acute intermittent porphyria in an extended Indian family.
Topics: Amino Acid Sequence; Base Sequence; DNA Mutational Analysis; Electrophoresis, Polyacrylamide Gel; Family; Female; Heme; Humans; Hydroxymethylbilane Synthase; India; Male; Middle Aged; Molecular Sequence Data; Mutant Proteins; Mutation; Pedigree; Porphyria, Acute Intermittent; Protein Structure, Secondary; Recombinant Fusion Proteins | 2007 |
Congenital porphyria.
Topics: Adolescent; Blood; Bone Marrow; Child; Child, Preschool; Diagnosis, Differential; Erythropoiesis; Female; Genes, Recessive; Heme; Humans; Liver; Male; Pedigree; Porphyria, Acute Intermittent; Porphyrias; Skin; Spleen | 1980 |
STZ-induced diabetes in mice and heme pathway enzymes. Effect of allylisopropylacetamide and alpha-tocopherol.
Topics: 5-Aminolevulinate Synthetase; Allylisopropylacetamide; Animals; Blood Glucose; Diabetes Mellitus, Experimental; Heme; Male; Mice; Nucleoside Deaminases; Porphobilinogen Synthase; Porphyria, Acute Intermittent; Streptozocin; Thiosulfate Sulfurtransferase; Vitamin E | 1995 |
Porphyric neuropathy: prevention of progression using haeme-arginate.
Topics: Adult; Arginine; Glucose Solution, Hypertonic; Heme; Humans; Male; Peripheral Nervous System Diseases; Porphyria, Acute Intermittent | 1993 |
Decreased nocturnal plasma melatonin levels in patients with recurrent acute intermittent porphyria attacks.
Topics: Adult; Arginine; Circadian Rhythm; Female; Heme; Humans; Melatonin; Porphyria, Acute Intermittent; Recurrence; Tryptophan | 1993 |
Early administration of heme arginate for acute porphyric attacks.
Topics: Adult; Aged; Arginine; Female; Heme; Humans; Length of Stay; Male; Middle Aged; Porphyria, Acute Intermittent; Time Factors; Treatment Outcome | 1993 |
Increased delta aminolevulinic acid and decreased pineal melatonin production. A common event in acute porphyria studies in the rat.
Topics: Acetylserotonin O-Methyltransferase; Adrenergic alpha-Agonists; Adrenergic beta-Agonists; Aminolevulinic Acid; Animals; Arylamine N-Acetyltransferase; Cells, Cultured; Enzyme Inhibitors; gamma-Aminobutyric Acid; Heme; Heptanoates; In Vitro Techniques; Isoproterenol; Male; Melatonin; Norepinephrine; Photoperiod; Pineal Gland; Porphobilinogen Synthase; Porphyria, Acute Intermittent; Rats; Rats, Wistar; Tryptophan | 1996 |
Haem precursors and porphobilinogen deaminase in erythrocytes and lymphocytes of patients with acute intermittent porphyria.
Topics: Adult; Aged; Erythrocytes; Female; Heme; Humans; Hydroxymethylbilane Synthase; Lymphocytes; Male; Middle Aged; Pedigree; Porphyria, Acute Intermittent; Protein Precursors | 1997 |
Hepatocellular carcinoma in patients from northern Sweden with acute intermittent porphyria: morphology and mutations.
Topics: Adenine; Aged; Aged, 80 and over; Alleles; Base Sequence; Carcinoma, Hepatocellular; Cell Division; Codon; DNA Damage; DNA, Viral; Female; Fixatives; Formaldehyde; Genes, p53; Genes, ras; Genes, Tumor Suppressor; Guanine; Heme; Hepatitis B virus; Humans; Hydroxymethylbilane Synthase; Liver Cirrhosis; Liver Neoplasms; Male; Middle Aged; Mutation; Porphyria, Acute Intermittent; Sweden; Tissue Fixation | 1996 |
5-Aminolevulinic acid dehydratase deficiency porphyria: a twenty-year clinical and biochemical follow-up.
Topics: Adolescent; Aminolevulinic Acid; Arginine; Biomarkers; Erythrocytes; Follow-Up Studies; Glucose; Heme; Humans; Male; Mutation; Porphobilinogen Synthase; Porphyria, Acute Intermittent; Porphyrins | 1998 |
Acute intermittent porphyria with central pontine myelinolysis and cortical laminar necrosis.
Topics: Adult; Arginine; Brain; Female; Fluid Therapy; Heme; Humans; Hyponatremia; Myelinolysis, Central Pontine; Necrosis; Porphyria, Acute Intermittent; Saline Solution, Hypertonic; Seizures; Vasospasm, Intracranial | 1999 |
Administration of heme arginate, but not hematin, caused anaphylactic shock.
Topics: Adult; Anaphylaxis; Arginine; Female; Heme; Hemin; Humans; Porphyria, Acute Intermittent | 2001 |
Zinc mesoporphyrin represses induced hepatic 5-aminolevulinic acid synthase and reduces heme oxygenase activity in a mouse model of acute hepatic porphyria.
Topics: 5-Aminolevulinate Synthetase; Acute Disease; Aminolevulinic Acid; Animals; Arginine; Cytosol; Drug Combinations; Female; Heme; Heme Oxygenase (Decyclizing); Injections, Intraperitoneal; Liver; Metalloporphyrins; Mice; Mice, Inbred C57BL; Mitochondria, Liver; Phenobarbital; Porphyria, Acute Intermittent; Porphyrias, Hepatic; Reference Values; RNA, Messenger | 2001 |
[Acute intermittent porphyria is a difficult diagnosis--especially in children].
Topics: Adolescent; Child; Cytosol; Diagnosis, Differential; Heme; Humans; Male; Medical Records; Mitochondria; Porphyria, Acute Intermittent | 2001 |
Mutants of Escherichia coli K12 accumulating porphobilinogen: a new locus, hemC.
Topics: Chromosome Mapping; Escherichia coli; Genes; Heme; Mutation; Porphobilinogen; Porphyria, Acute Intermittent; Transduction, Genetic | 1979 |
New form of dual porphyria: coexistent acute intermittent porphyria and porphyria cutanea tarda.
Topics: Adult; Erythrocytes; Female; Heme; Humans; Hydroxymethylbilane Synthase; Liver Diseases; Male; Middle Aged; Porphyria, Acute Intermittent; Porphyrias; Skin Diseases; Uroporphyrinogen Decarboxylase | 1989 |