porphobilinogen has been researched along with Porphyria, Acute Intermittent in 115 studies
Porphyria, Acute Intermittent: An autosomal dominant porphyria that is due to a deficiency of HYDROXYMETHYLBILANE SYNTHASE in the LIVER, the third enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features are recurrent and life-threatening neurologic disturbances, ABDOMINAL PAIN, and elevated level of AMINOLEVULINIC ACID and PORPHOBILINOGEN in the urine.
| Excerpt | Relevance | Reference |
|---|---|---|
| "Patients with major forms of acute hepatic porphyria present acute neurological attacks with overproduction of porphobilinogen (PBG) and δ-aminolevulinic acid (ALA)." | 8.12 | ALAD Inhibition by Porphobilinogen Rationalizes the Accumulation of δ-Aminolevulinate in Acute Porphyrias. ( Bernardo-Seisdedos, G; Cendoya, X; Laín, A; Mateos, B; Mato, JM; Millet, O; Pereira-Ortuzar, T; Planes, FJ; San Juan, I; To-Figueras, J, 2022) |
| "Autosomal-dominant acute porphyria, a group of rare diseases, can lead to life-threatening neurovisceral attacks." | 5.48 | Rapid spectrophotometric quantification of urinary porphyrins and porphobilinogen as screening tool for attacks of acute porphyria. ( Heckl, C; Hennig, G; Homann, C; Lang, A; Sroka, R; Stauch, T; Stepp, H; Vogeser, M, 2018) |
| "The acute hepatic porphyrias (AHP) are rare, inborn errors of heme-metabolism and include acute intermittent porphyria, hereditary coproporphyria, variegate porphyria, and porphyria due to severe deficiency of 5-aminolevulinic acid dehydratase." | 5.41 | AGA Clinical Practice Update on Diagnosis and Management of Acute Hepatic Porphyrias: Expert Review. ( Balwani, M; Bonkovsky, HL; Lim, JK; Wang, B, 2023) |
| ") Key secondary end points were levels of ALA and porphobilinogen and the annualized attack rate among patients with acute hepatic porphyria, along with hemin use and daily worst pain scores in patients with acute intermittent porphyria." | 5.34 | Phase 3 Trial of RNAi Therapeutic Givosiran for Acute Intermittent Porphyria. ( Anderson, KE; Balwani, M; Bissell, DM; Bonkovsky, HL; Chen, J; Garg, P; Gouya, L; Harper, P; Horie, Y; Ivanova, A; Kauppinen, R; Keel, SB; Kim, JB; Ko, JJ; Langendonk, JG; Liu, S; Minder, E; Parker, C; Peiró, PA; Penz, C; Phillips, J; Rees, DC; Sardh, E; Silver, SM; Simon, AR; Stein, PE; Stölzel, U; Sweetser, MT; Vaishnaw, A; Vassiliou, D; Ventura, P; Wang, B; Wang, JD; Windyga, J, 2020) |
| "Acute intermittent porphyria (AIP), caused by heterozygous germline mutations of the heme synthesis pathway enzyme HMBS (hydroxymethylbilane synthase), confers a high risk of hepatocellular carcinoma (HCC) development." | 4.12 | Bi-allelic hydroxymethylbilane synthase inactivation defines a homogenous clinico-molecular subtype of hepatocellular carcinoma. ( Amaddeo, G; Bayard, Q; Blanc, JF; Calderaro, J; Letouzé, E; Ma, X; Molina, L; Trépo, E; Zhu, J; Zucman-Rossi, J, 2022) |
| "Patients with major forms of acute hepatic porphyria present acute neurological attacks with overproduction of porphobilinogen (PBG) and δ-aminolevulinic acid (ALA)." | 4.12 | ALAD Inhibition by Porphobilinogen Rationalizes the Accumulation of δ-Aminolevulinate in Acute Porphyrias. ( Bernardo-Seisdedos, G; Cendoya, X; Laín, A; Mateos, B; Mato, JM; Millet, O; Pereira-Ortuzar, T; Planes, FJ; San Juan, I; To-Figueras, J, 2022) |
| "Demonstration of substantially increased urinary excretion of porphobilinogen is the cornerstone of diagnosing acute porphyria crisis." | 3.77 | Evaluation of a commercially available rapid urinary porphobilinogen test. ( Stauch, T; Vogeser, M, 2011) |
| "Accurate determinations of 5-aminolevulinic acid (ALA) and porphobilinogen (PBG) in physiologic fluids are required for the diagnosis and therapeutic monitoring of acute porphyrias." | 3.77 | A LC-MS/MS method for the specific, sensitive, and simultaneous quantification of 5-aminolevulinic acid and porphobilinogen. ( Balwani, M; Bishop, D; Desnick, RJ; Yasuda, M; Yu, C; Zhang, J, 2011) |
| "A new form of acute hepatic porphyria with double genetic defect--deficiency of porphobilinogen deaminase and coproporphyrinogen oxidase--is described." | 3.69 | Coexistence of hereditary coproporphyria with acute intermittent porphyria. ( Gregor, A; Kostrzewska, E; Stachurska, H; Tarczynska-Nosal, S, 1994) |
| "Acute intermittent porphyria (AIP) is a primary disorder of haem biosynthesis that is chemically characterised by raised urinary porphobilinogen (PBG)." | 3.66 | Family evaluations in acute intermittent porphyria using red cell uroporphyrinogen I synthetase. ( Frykholm, BC; Lamon, JM; Tschudy, DP, 1979) |
| "Acute hepatic porphyria (AHP) is a family of four rare genetic diseases, each involving deficiency in a hepatic heme biosynthetic enzyme." | 3.11 | Disease burden in patients with acute hepatic porphyria: experience from the phase 3 ENVISION study. ( Balwani, M; Cassiman, D; Kubisch, I; Liu, S; Sweetser, MT; Takase, KI; Thapar, M; Ventura, P; Wang, B, 2022) |
| " This phase I study evaluated the safety, pharmacokinetic, and pharmacodynamic profile of subcutaneously (SC) administered givosiran in patients with acute intermittent porphyria, the most common AHP type." | 2.94 | Pharmacokinetics and Pharmacodynamics of the Small Interfering Ribonucleic Acid, Givosiran, in Patients With Acute Hepatic Porphyria. ( Agarwal, S; Clausen, VA; Goel, V; Habtemariam, BA; Kim, JB; Robbie, GJ; Simon, AR, 2020) |
| " In AIP mice, preventive treatment with an experimental fusion protein of insulin and apolipoprotein A-I improved the disease by promoting fat mobilization in adipose tissue, increasing the metabolite bioavailability for the TCA cycle and inducing mitochondrial biogenesis in the liver." | 2.82 | Understanding Carbohydrate Metabolism and Insulin Resistance in Acute Intermittent Porphyria. ( Córdoba, KM; Ena, J; Enríquez de Salamanca, R; Fontanellas, A; Jericó, D; Morales-Conejo, M; Solares, I, 2022) |
| "No serious adverse events were observed." | 2.73 | 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. ( Andersson, DE; Harper, P; Rejkjaer, L; Sardh, E, 2007) |
| "Acute intermittent porphyria is one of eight disorders arising from disturbances in heme biosynthesis where the precursors, 5-aminolevulinate and porphobilinogen, are elevated in plasma and urine." | 1.72 | Peritoneal dialysis resulting in discontinuance of recurring attacks of acute intermittent porphyria: A case report. ( Erlandsen, EJ; Randers, E; Thomsen, HH; Østergaard, MGØ, 2022) |
| "Although classified as an acute hepatic porphyria (AHP), induction of the rate limiting hepatic enzyme 5-aminolevulinic acid synthase-1 (ALAS1) has not been demonstrated, and the marrow may also contribute excess 5-aminolevulinic acid (ALA)." | 1.56 | 5-Aminolevulinate dehydratase porphyria: Update on hepatic 5-aminolevulinic acid synthase induction and long-term response to hemin. ( Anderson, KE; Chan, A; Desnick, RJ; Lahiji, AP; Ramanujam, VMS; Simon, A, 2020) |
| " Finally, a theoretical hemin effect was implemented to illustrate the applicability of the model to dosage optimization in drug therapies." | 1.51 | Computational disease model of phenobarbital-induced acute attacks in an acute intermittent porphyria mouse model. ( Fontanellas, A; Jericó, D; Parra-Guillén, ZP; Sampedro, A; Serrano-Mendioroz, I; Trocóniz, IF; Vera-Yunca, D, 2019) |
| "Autosomal-dominant acute porphyria, a group of rare diseases, can lead to life-threatening neurovisceral attacks." | 1.48 | Rapid spectrophotometric quantification of urinary porphyrins and porphobilinogen as screening tool for attacks of acute porphyria. ( Heckl, C; Hennig, G; Homann, C; Lang, A; Sroka, R; Stauch, T; Stepp, H; Vogeser, M, 2018) |
| "Acute intermittent porphyria is a rare disorder, characterised clinically by variable patterns of neurological and metabolic disturbances." | 1.40 | Sudden bilateral reversible vision loss: a rare presentation of acute intermittent porphyria. ( Bhuyan, S; Gupta, V; Sharma, AK; Singh, PK; Sureka, RK, 2014) |
| "Acute intermittent porphyria is a metabolic disorder rarely seen in prepubertal children." | 1.38 | Acute intermittent porphyria: a diagnostic challenge. ( Ahn, SY; Anyaegbu, E; Goodman, M; Shinawi, M; Thangarajh, M; Wong, M, 2012) |
| "Acute intermittent porphyria is the most common of hepatic porphyrias and can tax the therapeutic capabilities of the physician to the limit." | 1.35 | Hemodialysis: a therapeutic option for severe attacks of acute intermittent porphyria in developing countries. ( Jayakumar, M; Manorajan, R; Prabahar, MR; Sathiyakumar, D; Soundararajan, P, 2008) |
| "Analysis of primary diagnosis of acute porphyria hepatica in Russia (region-related prevalence, duration of diagnosis, complications because of late pathogenetic treatment) demonstrates the importance of screening diagnosis of acute porphyria at the level of municipal clinics." | 1.34 | [Acute porphyrias: problem of primary diagnosis in Russia and CIS countries]. ( Karpova, IV; Kravshenko, SK; Kremenetskaia, AM; Luchinina, IuA; Luk'ianenko, AV; Pustovoĭt, IaS; Surin, VL, 2007) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 18 (15.65) | 18.7374 |
| 1990's | 17 (14.78) | 18.2507 |
| 2000's | 25 (21.74) | 29.6817 |
| 2010's | 41 (35.65) | 24.3611 |
| 2020's | 14 (12.17) | 2.80 |
| Authors | Studies |
|---|---|
| Østergaard, MGØ | 1 |
| Erlandsen, EJ | 1 |
| Thomsen, HH | 1 |
| Randers, E | 1 |
| Molina, L | 1 |
| Zhu, J | 1 |
| Trépo, E | 1 |
| Bayard, Q | 1 |
| Amaddeo, G | 1 |
| Blanc, JF | 1 |
| Calderaro, J | 1 |
| Ma, X | 1 |
| Zucman-Rossi, J | 1 |
| Letouzé, E | 1 |
| Wang, B | 3 |
| Ventura, P | 2 |
| Takase, KI | 1 |
| Thapar, M | 1 |
| Cassiman, D | 1 |
| Kubisch, I | 1 |
| Liu, S | 2 |
| Sweetser, MT | 2 |
| Balwani, M | 7 |
| San Juan, I | 1 |
| Pereira-Ortuzar, T | 1 |
| Cendoya, X | 1 |
| Laín, A | 1 |
| To-Figueras, J | 3 |
| Mateos, B | 1 |
| Planes, FJ | 1 |
| Bernardo-Seisdedos, G | 1 |
| Mato, JM | 1 |
| Millet, O | 1 |
| Solares, I | 1 |
| Jericó, D | 2 |
| Córdoba, KM | 1 |
| Morales-Conejo, M | 1 |
| Ena, J | 1 |
| Enríquez de Salamanca, R | 1 |
| Fontanellas, A | 3 |
| Bonkovsky, HL | 5 |
| Lim, JK | 1 |
| Lissing, M | 1 |
| Wester, A | 1 |
| Vassiliou, D | 3 |
| Floderus, Y | 3 |
| Harper, P | 9 |
| Sardh, E | 8 |
| Wahlin, S | 3 |
| Guzman, KJ | 1 |
| Suthar, LA | 1 |
| Golla, R | 1 |
| Mukherjee, A | 1 |
| Gone, RK | 1 |
| Singh, H | 1 |
| Pannu, AK | 1 |
| Suri, V | 1 |
| Bhalla, A | 1 |
| Agarwal, S | 1 |
| Simon, AR | 3 |
| Goel, V | 1 |
| Habtemariam, BA | 1 |
| Clausen, VA | 1 |
| Kim, JB | 3 |
| Robbie, GJ | 1 |
| Bustos, J | 1 |
| Vargas, L | 1 |
| Quintero, R | 1 |
| Peiró, PA | 1 |
| Rees, DC | 5 |
| Stölzel, U | 1 |
| Bissell, DM | 3 |
| Windyga, J | 1 |
| Anderson, KE | 5 |
| Parker, C | 2 |
| Silver, SM | 1 |
| Keel, SB | 1 |
| Wang, JD | 1 |
| Stein, PE | 2 |
| Phillips, J | 2 |
| Ivanova, A | 1 |
| Langendonk, JG | 1 |
| Kauppinen, R | 3 |
| Minder, E | 2 |
| Horie, Y | 3 |
| Penz, C | 2 |
| Chen, J | 1 |
| Ko, JJ | 1 |
| Garg, P | 2 |
| Vaishnaw, A | 2 |
| Gouya, L | 2 |
| Cerovac, A | 1 |
| Brigic, A | 1 |
| Softic, D | 1 |
| Barakovic, A | 1 |
| Adzajlic, S | 1 |
| Lahiji, AP | 1 |
| Chan, A | 1 |
| Simon, A | 1 |
| Desnick, RJ | 5 |
| Ramanujam, VMS | 1 |
| Fredrick, TW | 1 |
| Braga Neto, MB | 1 |
| Johnsrud, DO | 1 |
| Camilleri, M | 1 |
| Chedid, VG | 1 |
| Lin, CN | 1 |
| Huang, YC | 1 |
| Ro, LS | 1 |
| Liao, MF | 1 |
| Ning, HC | 2 |
| Kuo, HC | 3 |
| Senn, JD | 1 |
| Huber, LC | 1 |
| Barman-Aksözen, J | 1 |
| Ruspini, SF | 1 |
| Zuccoli, JR | 1 |
| Lavandera, JV | 1 |
| Martínez, MDC | 1 |
| Oliveri, LM | 1 |
| Gerez, EN | 1 |
| Batlle, AMDC | 1 |
| Buzaleh, AM | 1 |
| Lang, A | 1 |
| Heckl, C | 1 |
| Vogeser, M | 2 |
| Stauch, T | 2 |
| Homann, C | 1 |
| Hennig, G | 1 |
| Sroka, R | 1 |
| Stepp, H | 1 |
| Ren, Y | 1 |
| Xu, LX | 1 |
| Liu, YF | 1 |
| Xiang, CY | 1 |
| Gao, F | 1 |
| Wang, Y | 1 |
| Bai, T | 1 |
| Yin, JH | 1 |
| Zhao, YL | 1 |
| Yang, J | 1 |
| Storjord, E | 2 |
| Dahl, JA | 1 |
| Landsem, A | 1 |
| Ludviksen, JK | 1 |
| Karlsen, MB | 1 |
| Karlsen, BO | 1 |
| Brekke, OL | 2 |
| Yasuda, M | 4 |
| Gan, L | 2 |
| Chen, B | 3 |
| Yu, C | 3 |
| Zhang, J | 2 |
| Gama-Sosa, MA | 1 |
| Pollak, DD | 1 |
| Berger, S | 1 |
| Phillips, JD | 2 |
| Edelmann, W | 1 |
| Vera-Yunca, D | 1 |
| Serrano-Mendioroz, I | 1 |
| Sampedro, A | 2 |
| Trocóniz, IF | 1 |
| Parra-Guillén, ZP | 1 |
| Stein, P | 1 |
| Rees, D | 1 |
| Desnick, R | 1 |
| Chan-Daniels, A | 1 |
| He, Q | 1 |
| Querbes, W | 1 |
| Fitzgerald, K | 1 |
| Barreda-Sánchez, M | 1 |
| Buendía-Martínez, J | 1 |
| Glover-López, G | 1 |
| Carazo-Díaz, C | 1 |
| Ballesta-Martínez, MJ | 1 |
| López-González, V | 1 |
| Sánchez-Soler, MJ | 1 |
| Rodriguez-Peña, L | 1 |
| Serrano-Antón, AT | 1 |
| Gil-Ferrer, R | 1 |
| Martínez-Romero, MDC | 1 |
| Carbonell-Meseguer, P | 1 |
| Guillén-Navarro, E | 1 |
| Tatari, MM | 1 |
| McCain, JD | 1 |
| Cowdell, JC | 1 |
| Yin, Z | 1 |
| Ellis, EC | 1 |
| Ericzon, BG | 2 |
| Nowak, G | 1 |
| Larion, S | 1 |
| Caballes, FR | 1 |
| Hwang, SI | 1 |
| Lee, JG | 1 |
| Rossman, WE | 1 |
| Parsons, J | 1 |
| Steuerwald, N | 1 |
| Li, T | 1 |
| Maddukuri, V | 1 |
| Groseclose, G | 1 |
| Finkielstein, CV | 1 |
| Marsden, JT | 3 |
| Mumoli, N | 2 |
| Vitale, J | 2 |
| Cei, M | 2 |
| Füessl, HS | 1 |
| Sabatini, S | 1 |
| Cocciolo, M | 1 |
| Gambaccini, L | 1 |
| Masi, L | 1 |
| Bhuyan, S | 1 |
| Sharma, AK | 1 |
| Sureka, RK | 1 |
| Gupta, V | 1 |
| Singh, PK | 1 |
| Pallet, N | 1 |
| Mami, I | 1 |
| Schmitt, C | 1 |
| Karim, Z | 1 |
| François, A | 1 |
| Rabant, M | 1 |
| Nochy, D | 1 |
| Deybach, JC | 3 |
| Xu-Dubois, Y | 1 |
| Thervet, E | 1 |
| Puy, H | 3 |
| Karras, A | 1 |
| Erwin, AL | 1 |
| Liu, LU | 1 |
| Kadirvel, S | 1 |
| Fiel, MI | 1 |
| Gordon, RE | 1 |
| Clavero, S | 1 |
| Arvelakis, A | 1 |
| Naik, H | 2 |
| Martin, LD | 1 |
| Sadagoparamanujam, VM | 1 |
| Florman, SS | 1 |
| Marcos, J | 1 |
| Ibañez, M | 1 |
| Ventura, R | 1 |
| Segura, J | 1 |
| Pozo, OJ | 1 |
| Patell, R | 1 |
| Dosi, R | 1 |
| Joshi, H | 1 |
| Shah, P | 1 |
| Tripathi, R | 1 |
| Oosthuizen, NM | 1 |
| Olivier, J | 1 |
| Martins, J | 1 |
| Schutte, C | 1 |
| Pillay, TS | 1 |
| Singh, P | 1 |
| Seth, A | 1 |
| Debnath, EM | 1 |
| Doheny, D | 1 |
| Billoo, AG | 1 |
| Lone, SW | 1 |
| Luder, AS | 1 |
| Mamet, R | 3 |
| Farbstein, I | 1 |
| Schoenfeld, N | 3 |
| Andersson, DE | 5 |
| Henrichson, A | 1 |
| Pfäfflin, A | 1 |
| Unzu, C | 1 |
| Mauleón, I | 1 |
| Vanrell, L | 1 |
| Dubrot, J | 1 |
| de Salamanca, RE | 1 |
| González-Aseguinolaza, G | 1 |
| Melero, I | 1 |
| Prieto, J | 1 |
| Andersson, C | 4 |
| Tébar, MT | 1 |
| Aguilera, L | 1 |
| Webber, PR | 1 |
| Aarsand, AK | 2 |
| Sandvik, AK | 1 |
| Skadberg, Ø | 1 |
| Lindberg, M | 1 |
| Sandberg, S | 2 |
| Paradisi, I | 1 |
| Arias, S | 1 |
| Bouizegarene, P | 1 |
| da Silva, VP | 1 |
| Masuda, T | 1 |
| Ota, R | 1 |
| Ando, T | 1 |
| Maeda, N | 2 |
| Yoshimura, T | 1 |
| Motomura, M | 1 |
| Kawakami, A | 1 |
| Bishop, D | 1 |
| Huang, CC | 2 |
| Chu, CC | 1 |
| Lee, MJ | 2 |
| Chuang, WL | 2 |
| Wu, CL | 1 |
| Wu, T | 1 |
| Liu, CY | 1 |
| Anyaegbu, E | 1 |
| Goodman, M | 1 |
| Ahn, SY | 1 |
| Thangarajh, M | 1 |
| Wong, M | 1 |
| Shinawi, M | 1 |
| Beliaev, AM | 1 |
| Foliaki, A | 1 |
| Ha, L | 1 |
| Boswell, DR | 1 |
| Benton, CM | 2 |
| Couchman, L | 2 |
| Moniz, C | 2 |
| Lim, CK | 3 |
| Badminton, MN | 1 |
| Barth, JH | 2 |
| Sarkany, R | 1 |
| Stewart, MF | 1 |
| Cox, TM | 1 |
| von und zu Fraunberg, M | 1 |
| Hultdin, J | 1 |
| Schmauch, A | 1 |
| Wikberg, A | 1 |
| Dahlquist, G | 1 |
| WESTALL, RG | 1 |
| GOLDBERG, A | 1 |
| RIMINGTON, C | 1 |
| BLEIFER, SB | 1 |
| ALPHAS, SJ | 1 |
| ACKNER, B | 1 |
| COOPER, JE | 1 |
| GRAY, CH | 1 |
| KELLY, M | 1 |
| NICHOLSON, DC | 1 |
| WATSON, CJ | 1 |
| BOSSENMAIER, I | 1 |
| CARDINAL, R | 1 |
| WITH, TK | 1 |
| JAMES, GW | 1 |
| RUDOLPH, SG | 1 |
| ABBOTT, LD | 1 |
| SMITH, SG | 1 |
| KELENYI, G | 1 |
| ARATO, G | 1 |
| BUDA, V | 1 |
| ORBAN, S | 1 |
| GRANICK, S | 1 |
| VANDEN SCHRIECK, HG | 1 |
| Warholm, C | 1 |
| Wilczek, H | 1 |
| ERIKSEN, L | 2 |
| Herrick, AL | 1 |
| McColl, KE | 1 |
| Möller, C | 1 |
| Rejkjaer, L | 2 |
| Petersen, PH | 1 |
| Prunty, FT | 1 |
| Badenas, C | 1 |
| Carrera, C | 1 |
| Muñoz, C | 1 |
| Milá, M | 1 |
| Lecha, M | 1 |
| Herrero, C | 1 |
| Nielsen, EW | 1 |
| Karpova, IV | 2 |
| Pustovoĭt, IaS | 2 |
| Luchinina, IuA | 1 |
| Surin, VL | 1 |
| Luk'ianenko, AV | 1 |
| Kravshenko, SK | 1 |
| Kremenetskaia, AM | 2 |
| Feder, ZM | 1 |
| Mironova, TS | 1 |
| Shtabnitskiĭ, AM | 1 |
| Kurtser, MA | 1 |
| Sokolova, MIu | 1 |
| Murashko, LE | 1 |
| Shmakov, RG | 1 |
| Petrova, VI | 1 |
| Ignashina, EV | 1 |
| Pustovoĭt, LA | 1 |
| Kravchenko, SK | 1 |
| Charytan, DM | 1 |
| Albrich, WC | 1 |
| Brown, RS | 1 |
| Prabahar, MR | 1 |
| Manorajan, R | 1 |
| Sathiyakumar, D | 1 |
| Soundararajan, P | 1 |
| Jayakumar, M | 1 |
| Romeo, G | 1 |
| Elcock, D | 1 |
| Norris, A | 1 |
| Ben-Chetrit, E | 1 |
| Putterman, C | 1 |
| Gregor, A | 1 |
| Kostrzewska, E | 1 |
| Tarczynska-Nosal, S | 1 |
| Stachurska, H | 1 |
| Helson, L | 1 |
| Braverman, S | 1 |
| Mangiardi, J | 1 |
| Stevens, JJ | 1 |
| Kneeshaw, JD | 1 |
| Usalan, C | 1 |
| Erdem, Y | 1 |
| Altun, B | 1 |
| Gürsoy, M | 1 |
| Celik, I | 1 |
| Yasavul, U | 1 |
| Turgan, C | 1 |
| Cağlar, S | 1 |
| Sasaki, H | 1 |
| Kaneko, K | 1 |
| Tsuneyama, H | 1 |
| Daimon, M | 1 |
| Yamatani, K | 1 |
| Manaka, H | 1 |
| Luo, JL | 1 |
| Deka, J | 1 |
| Sztern, M | 1 |
| Rosipal, R | 1 |
| Lamoril, J | 1 |
| Martasek, P | 1 |
| Nordmann, Y | 1 |
| Goerz, G | 1 |
| Bolsen, K | 1 |
| Böhrer, H | 1 |
| Fritsch, C | 1 |
| Kalka, K | 1 |
| Rominger, KL | 1 |
| Allen, KR | 1 |
| Rushworth, PA | 1 |
| Degg, TJ | 1 |
| Schattenberg, AV | 1 |
| de Pauw, BE | 1 |
| Bylesjö, I | 1 |
| Lithner, F | 1 |
| Morales Ortega, X | 1 |
| Wolff Fernández, C | 1 |
| Leal Ibarra, T | 1 |
| Montaña Navarro, N | 1 |
| Armas-Merino, R | 1 |
| Sasaki, Y | 1 |
| Ueta, E | 1 |
| Adachi, K | 1 |
| Nanba, E | 1 |
| Kawasaki, H | 1 |
| Kudo, Y | 1 |
| Kondo, M | 1 |
| Oomman, A | 1 |
| Sharma, RN | 1 |
| Vilasini, K | 1 |
| Sykes, RM | 1 |
| Elder, GH | 1 |
| Hift, RJ | 1 |
| Hiraki, T | 1 |
| Oishi, K | 1 |
| Kano, T | 1 |
| Gorchein, A | 1 |
| McConville, ML | 1 |
| Charles, HP | 1 |
| Lamon, JM | 1 |
| Frykholm, BC | 1 |
| Tschudy, DP | 1 |
| Iwanov, ED | 1 |
| Adjarov, D | 1 |
| Tsanev, R | 1 |
| Knudsen, KB | 1 |
| Sparberg, M | 1 |
| Lecocq, F | 1 |
| Trial | Phase | Enrollment | Study Type | Start Date | Status | ||
|---|---|---|---|---|---|---|---|
| ENVISION: A Phase 3 Randomized, Double-blind, Placebo-Controlled Multicenter Study With an Open-label Extension to Evaluate the Efficacy and Safety of Givosiran in Patients With Acute Hepatic Porphyrias[NCT03338816] | Phase 3 | 94 participants (Actual) | Interventional | 2017-11-16 | Completed | ||
| Dental Health, Diet, Inflammation and Biomarkers in Patients With Acute Intermittent Porphyria(AIP)[NCT01617642] | 100 participants (Actual) | Observational | 2012-07-01 | Active, not recruiting | |||
| A Phase 1, Single-ascending Dose, Multiple-ascending Dose, and Multi-dose Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics Study of Subcutaneously Administered ALN AS1 in Patients With Acute Intermittent Porphyria (AIP)[NCT02452372] | Phase 1 | 40 participants (Actual) | Interventional | 2015-05-06 | Completed | ||
| [information is prepared from clinicaltrials.gov, extracted Sep-2024] | |||||||
Annualized rate of hemin doses was evaluated as annualized days of hemin use. (NCT03338816)
Timeframe: 6 months
| Intervention | annualized rate of use (Mean) |
|---|---|
| Placebo | 29.71 |
| Givosiran 2.5 mg/kg | 6.77 |
Porphyria attacks were defined as meeting all of the following criteria: an acute episode of neurovisceral pain in the abdomen, back, chest, extremities and/or limbs, no other medically determined cause, and required treatment with intravenous (IV) dextrose or hemin, carbohydrates, or analgesics, or other medications such as antiemetics at a dose or frequency beyond the participant's usual daily porphyria management. The annualized rate of porphyria attacks is a composite endpoint which included porphyria attacks requiring hospitalization, urgent healthcare visit, or IV hemin administration at home. (NCT03338816)
Timeframe: 6 months
| Intervention | annualized attack rate (Mean) |
|---|---|
| Placebo | 12.52 |
| Givosiran 2.5 mg/kg | 3.22 |
Porphyria attacks were defined as meeting all of the following criteria: an acute episode of neurovisceral pain in the abdomen, back, chest, extremities and/or limbs, no other medically determined cause, and required treatment with intravenous (IV) dextrose or hemin, carbohydrates, or analgesics, or other medications such as antiemetics at a dose or frequency beyond the participant's usual daily porphyria management. The annualized rate of porphyria attacks is a composite endpoint which included porphyria attacks requiring hospitalization, urgent healthcare visit, or IV hemin administration at home. (NCT03338816)
Timeframe: 6 months
| Intervention | annualized attack rate (Mean) |
|---|---|
| Placebo | 12.26 |
| Givosiran 2.5 mg/kg | 3.35 |
Participants rated worst daily pain score in an eDiary using the 11-point BPI-SF NRS, in which 0=no pain and 10=worst pain. Daily eDiary entries were averaged into a weekly (i.e. 7 day) score. The change from baseline in weekly mean scores is defined as the post baseline weekly mean score minus the baseline score. Lower scores indicate an improvement. The 6-month AUC was calculated based on change from baseline in weekly mean scores. (NCT03338816)
Timeframe: Baseline and 6 months
| Intervention | score on a scale*week (Median) |
|---|---|
| Placebo | 5.286 |
| Givosiran 2.5 mg/kg | -11.514 |
Participants rated worst daily nausea score in an eDiary using an 11-point NRS, in which 0=no nausea and 10=worst nausea. Daily eDiary entries were averaged into a weekly (i.e. 7 day) score. The change from baseline in weekly mean scores is defined as the postbaseline weekly mean score minus the baseline score. Lower scores indicate an improvement. The 6-month AUC was calculated based on change from baseline in weekly mean scores. (NCT03338816)
Timeframe: Baseline and 6 months
| Intervention | score on a scale (Least Squares Mean) |
|---|---|
| Placebo | -4.011 |
| Givosiran 2.5 mg/kg | 1.481 |
Participants rated daily worst fatigue score in an eDiary using the 11-point BFI-SF NRS, in which 0=no fatigue and 10=worst fatigue. Daily eDiary entries were averaged into a weekly (i.e. 7 day) score. The change from baseline in weekly mean scores is defined as the post baseline weekly mean score minus the baseline score. Lower scores indicate an improvement. The 6-month AUC was calculated based on change from baseline in weekly mean scores. (NCT03338816)
Timeframe: Baseline and 6 months
| Intervention | score on a scale*week (Least Squares Mean) |
|---|---|
| Placebo | -4.208 |
| Givosiran 2.5 mg/kg | -11.148 |
Participants rated worst daily nausea score in an eDiary using an 11-point NRS, in which 0=no nausea and 10=worst nausea. Daily eDiary entries were averaged into a weekly (i.e. 7 day) score. The change from baseline in weekly mean scores is defined as the postbaseline weekly mean score minus the baseline score. Lower scores indicate an improvement. (NCT03338816)
Timeframe: Baseline and 6 months
| Intervention | score on a scale (Least Squares Mean) |
|---|---|
| Placebo | -0.181 |
| Givosiran 2.5 mg/kg | 0.067 |
Participants rated daily worst fatigue score in an eDiary using the 11-point BFI-SF NRS, in which 0=no fatigue and 10=worst fatigue. Daily eDiary entries were averaged into a weekly (i.e. 7 day) score. The change from baseline in weekly mean scores is defined as the postbaseline weekly mean score minus the baseline score. Lower scores indicate an improvement. (NCT03338816)
Timeframe: Baseline and 6 months
| Intervention | score on a scale (Least Squares Mean) |
|---|---|
| Placebo | -0.182 |
| Givosiran 2.5 mg/kg | -0.502 |
Participants rated worst daily pain score in an eDiary using the 11-point BPI-SF NRS, in which 0=no pain and 10=worst pain. Daily eDiary entries were averaged into a weekly (i.e. 7 day) score. The change from baseline in weekly mean scores is defined as the postbaseline weekly mean score minus the baseline score. Lower scores indicate an improvement. (NCT03338816)
Timeframe: Baseline and 6 months
| Intervention | score on a scale (Median) |
|---|---|
| Placebo | 0.245 |
| Givosiran 2.5 mg/kg | -0.506 |
The SF-12 is a survey designed for use in patients with multiple chronic conditions. This 12-item scale can be used to assess the physical and mental health of respondents. 10 of the 12 questions are answered on a 5 point likert scale and 2 are answered on a 3 point likert scale. The questions are then scored and weighted into 2 subscales, physical health and mental health. Respondents can have a score that ranges from 0-100 with 100 being the best score and indicating high physical or mental health. A 3 point change in SF-12 score reflects a meaningful difference. A higher score indicates improvement. (NCT03338816)
Timeframe: Baseline and 6 months
| Intervention | score on a scale (Least Squares Mean) |
|---|---|
| Placebo | 1.431 |
| Givosiran 2.5 mg/kg | 5.369 |
The PD effect of givosiran was evaluated by spot urine PBG levels normalized to spot urine creatinine levels. (NCT03338816)
Timeframe: 6 months
| Intervention | mmol/mol Cr (Least Squares Mean) |
|---|---|
| Placebo | 49.110 |
| Givosiran 2.5 mg/kg | 12.906 |
The PD effect of givosiran was evaluated by spot urine ALA levels normalized to spot urine creatinine levels. (NCT03338816)
Timeframe: 3 and 6 months
| Intervention | mmol/mol creatinine (Cr) (Least Squares Mean) | |
|---|---|---|
| Month 3 | Month 6 | |
| Givosiran 2.5 mg/kg | 1.756 | 4.013 |
| Placebo | 19.965 | 23.150 |
10 reviews available for porphobilinogen and Porphyria, Acute Intermittent
| Article | Year |
|---|---|
Understanding Carbohydrate Metabolism and Insulin Resistance in Acute Intermittent Porphyria.
Topics: Aminolevulinic Acid; Animals; Carbohydrate Metabolism; Glucose; Heme; Humans; Hydroxymethylbilane Sy | 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; Hem | 2023 |
Porphyria.
Topics: Female; Heme; Hemin; Humans; Male; Phlebotomy; Porphobilinogen; Porphyria Cutanea Tarda; Porphyria, | 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 Dise | 2018 |
Acute Intermittent Porphyria in children: A case report and review of the literature.
Topics: Child; Female; Genetic Testing; Heme; Humans; Hydroxymethylbilane Synthase; Male; Mutation; Porphobi | 2016 |
Molecular diagnostics of acute intermittent porphyria.
Topics: Genetic Testing; Humans; Molecular Diagnostic Techniques; Mutation; Porphobilinogen; Porphyria, Acut | 2004 |
Acute intermittent porphyria.
Topics: Abdominal Pain; Adult; Aminolevulinic Acid; Cytochrome P-450 Enzyme System; Erythrocytes; Female; He | 2005 |
The hepatic porphyrias.
Topics: 5-Aminolevulinate Synthetase; Acute Disease; Adolescent; Adult; Aminolevulinic Acid; Chemical Phenom | 1980 |
[Perplexing acute or chronic somatic or psychiatric symptoms: possibly due to porphyria].
Topics: Abdominal Pain; Adult; Aminolevulinic Acid; Disease Management; Female; Humans; Laparotomy; Mental D | 1998 |
Treatment of acute porphyria.
Topics: Adolescent; Adult; Analgesics, Opioid; Arginine; Clinical Trials as Topic; Dietary Carbohydrates; Fe | 2001 |
6 trials available for porphobilinogen and Porphyria, Acute Intermittent
| Article | Year |
|---|---|
Disease burden in patients with acute hepatic porphyria: experience from the phase 3 ENVISION study.
Topics: Cost of Illness; Hemin; Humans; Pain; Porphobilinogen; Porphobilinogen Synthase; Porphyria, Acute In | 2022 |
Pharmacokinetics and Pharmacodynamics of the Small Interfering Ribonucleic Acid, Givosiran, in Patients With Acute Hepatic Porphyria.
Topics: Acetylgalactosamine; Adult; Aminolevulinic Acid; Dose-Response Relationship, Drug; Drug Administrati | 2020 |
Phase 3 Trial of RNAi Therapeutic Givosiran for Acute Intermittent Porphyria.
Topics: Acetylgalactosamine; Adult; Aminolevulinic Acid; Double-Blind Method; Fatigue; Female; Humans; Injec | 2020 |
Phase 1 Trial of an RNA Interference Therapy for Acute Intermittent Porphyria.
Topics: 5-Aminolevulinate Synthetase; Acetylgalactosamine; Adult; Amides; Dose-Response Relationship, Drug; | 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 | 2009 |
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.
Topics: Adult; Aged; Aminolevulinic Acid; Antibody Formation; Area Under Curve; Chromatography, Liquid; Dose | 2007 |
99 other studies available for porphobilinogen 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; | 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 N | 2022 |
ALAD Inhibition by Porphobilinogen Rationalizes the Accumulation of δ-Aminolevulinate in Acute Porphyrias.
Topics: Humans; Hydroxymethylbilane Synthase; Porphobilinogen; Porphyria, Acute Intermittent; Porphyrias, He | 2022 |
Porphyrin precursors and risk of primary liver cancer in acute intermittent porphyria: A case-control study of 188 patients.
Topics: Aged; Aminolevulinic Acid; Case-Control Studies; Humans; Liver Neoplasms; Middle Aged; Porphobilinog | 2023 |
Axonal Polyneuropathy in a Man Treated for Pulmonary Cocci: A Case of Acute Intermittent Porphyria.
Topics: Aged; Antifungal Agents; Coccidioidomycosis; Fluconazole; Humans; Lung Diseases, Fungal; Male; Polyn | 2019 |
Acute intermittent porphyria and anti-tuberculosis therapy.
Topics: Adolescent; Antitubercular Agents; Brain; Glucose; Humans; Magnetic Resonance Imaging; Male; Porphob | 2020 |
Acute intermittent porphyria: A case report
Topics: Delayed Diagnosis; Female; Gastrointestinal Diseases; Hemin; Humans; Neurons; Porphobilinogen; Porph | 2020 |
Uncontrolled Acute Intermittent Porphyria as a Cause of Spontaneous Abortion.
Topics: Abortion, Spontaneous; Adult; Aminolevulinic Acid; Contraceptives, Oral, Hormonal; Disease Progressi | 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; Human | 2020 |
Turning Purple with Pain.
Topics: Abdominal Pain; Adult; Constipation; Diagnosis, Differential; Female; Glucose; Humans; Hyponatremia; | 2021 |
Validation and evaluation of two porphobilinogen deaminase activity assays for diagnosis of acute intermittent porphyria.
Topics: Adolescent; Adult; Aged; Child; DNA; Female; Fluorometry; Hematocrit; Hemoglobins; Humans; Hydroxyme | 2018 |
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; Mi | 2018 |
Rapid spectrophotometric quantification of urinary porphyrins and porphobilinogen as screening tool for attacks of acute porphyria.
Topics: Algorithms; Equipment Design; Humans; Porphobilinogen; Porphyria, Acute Intermittent; Porphyrins; Sp | 2018 |
A novel 55-basepair deletion of hydroxymethylbilane synthase gene found in a Chinese patient with acute intermittent porphyria and her family: A case report.
Topics: Asian People; Base Pairing; China; Codon, Terminator; Female; Frameshift Mutation; Humans; Hydroxyme | 2018 |
Lifestyle factors including diet and biochemical biomarkers in acute intermittent porphyria: Results from a case-control study in northern Norway.
Topics: Acute Disease; Adult; Aged; Aminolevulinic Acid; Biomarkers; Case-Control Studies; Cross-Sectional S | 2019 |
Homozygous hydroxymethylbilane synthase knock-in mice provide pathogenic insights into the severe neurological impairments present in human homozygous dominant acute intermittent porphyria.
Topics: Aminolevulinic Acid; Animals; Central Nervous System; Gene Knock-In Techniques; Genes, Dominant; Hom | 2019 |
Computational disease model of phenobarbital-induced acute attacks in an acute intermittent porphyria mouse model.
Topics: Aminolevulinic Acid; Animals; Computer Simulation; Disease Models, Animal; Male; Mice; Mice, Inbred | 2019 |
High penetrance of acute intermittent porphyria in a Spanish founder mutation population and CYP2D6 genotype as a susceptibility factor.
Topics: Adolescent; Adult; Aged; Creatinine; Cytochrome P-450 CYP2D6; Female; Genetic Predisposition to Dise | 2019 |
28-Year-Old Woman With Severe Generalized Abdominal Pain.
Topics: Abdominal Pain; Adult; Contraceptive Agents, Female; Female; Humans; Medroxyprogesterone Acetate; Po | 2019 |
Hepatocyte transplantation ameliorates the metabolic abnormality in a mouse model of acute intermittent porphyria.
Topics: 5-Aminolevulinate Synthetase; Aminolevulinic Acid; Animals; Aryl Hydrocarbon Hydroxylases; Cells, Cu | 2014 |
Circadian rhythms in acute intermittent porphyria--a pilot study.
Topics: 5-Aminolevulinate Synthetase; Adult; Aged; Case-Control Studies; Circadian Clocks; Circadian Rhythm; | 2013 |
Urinary excretion of porphyrins, porphobilinogen and δ-aminolaevulinic acid following an attack of acute intermittent porphyria.
Topics: Aminolevulinic Acid; Female; Half-Life; Humans; Male; Porphobilinogen; Porphyria, Acute Intermittent | 2014 |
Images in emergency medicine. Acute intermittent porphyria.
Topics: Aged; Emergency Service, Hospital; Female; Humans; Porphobilinogen; Porphyria, Acute Intermittent | 2014 |
[Dark red urine].
Topics: Aged; Diagnosis, Differential; Female; Hematuria; Humans; Porphobilinogen; Porphyria, Acute Intermit | 2014 |
Prevalence and clinical features of acute intermittent porphyria: a retrospective analysis.
Topics: Abdominal Pain; Aged, 80 and over; Alcoholism; Bradycardia; Confusion; Female; Humans; Hypotension, | 2014 |
Sudden bilateral reversible vision loss: a rare presentation of acute intermittent porphyria.
Topics: Abdomen, Acute; Blindness; Brain; Epilepsy, Tonic-Clonic; Female; Follow-Up Studies; Humans; India; | 2014 |
High prevalence of and potential mechanisms for chronic kidney disease in patients with acute intermittent porphyria.
Topics: Aged; Aminolevulinic Acid; Apoptosis; Cells, Cultured; Endoplasmic Reticulum Stress; Epithelial Cell | 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 | 2015 |
Mass spectrometric characterisation of a condensation product between porphobilinogen and indolyl-3-acryloylglycine in urine of patients with acute intermittent porphyria.
Topics: Adult; Biomarkers; Female; Glycine; Humans; Male; Mass Spectrometry; Middle Aged; Porphobilinogen; P | 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; Porpho | 2016 |
Red-Brown Urine in a Patient with Chronic HIV Infection and Quadriparesis.
Topics: Adult; Antiretroviral Therapy, Highly Active; Chronic Disease; Diagnosis, Differential; Female; HIV | 2016 |
A family with acute intermittent porphyria.
Topics: Adolescent; Aminolevulinic Acid; Family; Female; Genetic Predisposition to Disease; Humans; Pedigree | 2008 |
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.
Topics: Adolescent; Aminolevulinic Acid; Autistic Disorder; Female; Humans; Hydroxymethylbilane Synthase; Mu | 2009 |
Porphyrin precursors and porphyrins in three patients with acute intermittent porphyria and end-stage renal disease under different therapy regimes.
Topics: Adult; Aminolevulinic Acid; Female; Humans; Kidney Failure, Chronic; Middle Aged; Peritoneal Dialysi | 2009 |
Remarks on the acute intermittent porphyria.
Topics: Coproporphyrins; Female; Humans; Intracranial Aneurysm; Male; Porphobilinogen; Porphyria, Acute Inte | 2009 |
Porphobilinogen deaminase over-expression in hepatocytes, but not in erythrocytes, prevents accumulation of toxic porphyrin precursors in a mouse model of acute intermittent porphyria.
Topics: Aminolevulinic Acid; Animals; Bone Marrow Transplantation; Disease Models, Animal; Erythrocytes; Fem | 2010 |
Combined liver and kidney transplantation in acute intermittent porphyria.
Topics: Female; Humans; Hydroxymethylbilane Synthase; Kidney Transplantation; Liver Transplantation; Middle | 2010 |
[Acute intermittent porphyria and inappropriate ADH syndrome].
Topics: Abdominal Pain; Adult; Aminolevulinic Acid; Coproporphyrins; Delayed Diagnosis; Dietary Carbohydrate | 2010 |
Acute porphyrias may be overlooked in patients taking methenamine hippurate.
Topics: Aged; Aminolevulinic Acid; Artifacts; Diagnostic Errors; Female; Hippurates; Humans; Methenamine; Po | 2010 |
Marked geographic aggregation of acute intermittent porphyria families carrying mutation Q180X in Venezuelan populations, with description of further mutations.
Topics: Adolescent; Adult; Biomarkers; Child; Child, Preschool; DNA Mutational Analysis; Female; Founder Eff | 2010 |
[Porphyria. What to think in the absence of a cause of abdominal pain].
Topics: Abdominal Pain; Aminolevulinic Acid; Female; Humans; Porphobilinogen; Porphyria, Acute Intermittent; | 2010 |
False-positive accumulation of metaiodobenzylguanidine in a case with acute intermittent porphyria.
Topics: 3-Iodobenzylguanidine; Adrenal Gland Neoplasms; Adult; Catecholamines; Diagnosis, Differential; Fals | 2011 |
Evaluation of a commercially available rapid urinary porphobilinogen test.
Topics: Humans; Porphobilinogen; Porphyria, Acute Intermittent; Time Factors; Urinalysis | 2011 |
A LC-MS/MS method for the specific, sensitive, and simultaneous quantification of 5-aminolevulinic acid and porphobilinogen.
Topics: Adolescent; Adult; Aminolevulinic Acid; Animals; Child; Child, Preschool; Chromatography, Liquid; Di | 2011 |
Neurological complications of acute intermittent porphyria.
Topics: Adolescent; Adult; Aminolevulinic Acid; Brain; Electroencephalography; Electromyography; Female; Hum | 2011 |
Acute intermittent porphyria: a diagnostic challenge.
Topics: Brain; Child; Complement C3; Electroencephalography; Humans; Hypertension; Magnetic Resonance Imagin | 2012 |
Acute non-specific abdominal pain with port-wine urine.
Topics: Abdomen, Acute; Biomarkers; Color; Female; Humans; Porphobilinogen; Porphyria, Acute Intermittent; Y | 2012 |
Direct and simultaneous determination of 5-aminolaevulinic acid and porphobilinogen in urine by hydrophilic interaction liquid chromatography-electrospray ionisation/tandem mass spectrometry.
Topics: Aminolevulinic Acid; Analysis of Variance; Chromatography, Liquid; Humans; Hydrophobic and Hydrophil | 2012 |
Acute intermittent porphyria: fatal complications of treatment.
Topics: Abdominal Pain; Adolescent; Analgesics; Arginine; Disease Management; Fatal Outcome; Female; Halluci | 2012 |
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.
Topics: Aminolevulinic Acid; Chromatography, Liquid; Humans; Hydrophobic and Hydrophilic Interactions; Least | 2013 |
Molecular and biochemical studies of acute intermittent porphyria in 196 patients and their families.
Topics: Adolescent; Adult; Aged; Aminolevulinic Acid; DNA; Family; Feces; Female; Humans; Hydroxymethylbilan | 2002 |
Acute intermittent porphyria in childhood: a population-based study.
Topics: Adolescent; Age Factors; Aminolevulinic Acid; Child; Child, Preschool; Female; Humans; Male; Photose | 2003 |
Isolation of porphobilinogen from the urine of a patient with acute porphyria.
Topics: Animals; Body Fluids; Humans; Porifera; Porphobilinogen; Porphyria, Acute Intermittent; Porphyrias | 1952 |
Fate of porphobilinogen in the rat: relation to acute porphyria in man.
Topics: Animals; Humans; Male; Porphobilinogen; Porphyria, Acute Intermittent; Porphyrins; Rats | 1954 |
Acute intermittent porphyria; report of a case associated with porphobilinogen in the urine of four of five children.
Topics: Body Fluids; Child; Humans; Medical Records; Porphobilinogen; Porphyria, Acute Intermittent; Porphyr | 1959 |
Excretion of porphobilinogen and 5-aminolaevulinic acid in acute porphyria.
Topics: Amino Acids; Humans; Porphobilinogen; Porphyria, Acute Intermittent; Porphyrias; Pyrroles | 1961 |
Acute intermittent porphyria. Urinary porphobilinogen and other Ehrlich reactors in diagnosis.
Topics: Humans; Porphobilinogen; Porphyria, Acute Intermittent; Porphyrias | 1961 |
Excretion of porphobilinogen and Delta-aminolaevulinic acid in acute porphyria.
Topics: Amino Acids; Aminolevulinic Acid; Biological Products; Humans; Pigments, Biological; Porphobilinogen | 1961 |
Delta-amino-levulinic acid, porphobilinogen, and porphyrin excretion throughout pregnancy in a patient with acute intermittent porphyria with "passive porphyria" in the infant.
Topics: Amino Acids; Aminolevulinic Acid; Female; Humans; Infant, Newborn, Diseases; Porphobilinogen; Porphy | 1961 |
The porphobilinogen in fresh postmortem tissues from a case of acute intermittent porphyria.
Topics: Animals; Autopsy; Humans; Porifera; Porphobilinogen; Porphyria, Acute Intermittent; Porphyrias; Porp | 1960 |
Urinary excretion of porphobilinogen in acute porphyria.
Topics: Humans; Porphobilinogen; Porphyria, Acute Intermittent; Porphyrias | 1960 |
Porphobilinogen and delta-amino levulinic acid in acute porphyria.
Topics: Aminolevulinic Acid; Humans; Keto Acids; Ketones; Porphobilinogen; Porphyria, Acute Intermittent; Po | 1955 |
Renal transplantation in a case of acute intermittent porphyria.
Topics: Aminolevulinic Acid; Azathioprine; Creatinine; Cyclosporine; Drug Interactions; Female; Graft Reject | 2003 |
Acute porphyria. II. Some observations on the conversion products from porphobilinogen.
Topics: Humans; Porphobilinogen; Porphyria, Acute Intermittent; Porphyrias | 1951 |
Acute porphyria. III. The separation of preformed porphyrin and porphobilinogen in the urine in acute porphyria; a coproporphyrin chromogen in normal and pathological urine.
Topics: Coproporphyrins; Humans; Naphthalenesulfonates; Porphobilinogen; Porphyria, Acute Intermittent; Porp | 1951 |
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.
Topics: Adult; Aminolevulinic Acid; Chromatography, High Pressure Liquid; Female; Heterozygote; Humans; Male | 2006 |
Estimation and application of biological variation of urinary delta-aminolevulinic acid and porphobilinogen in healthy individuals and in patients with acute intermittent porphyria.
Topics: Adult; Aminolevulinic Acid; Child; Female; Humans; Male; Middle Aged; Porphobilinogen; Porphyria, Ac | 2006 |
Acute porphyria: Some properties of porphobilinogen.
Topics: Humans; Porphobilinogen; Porphyria, Acute Intermittent; Porphyrins | 1945 |
Genetic and biochemical characterization of 16 acute intermittent porphyria cases with a high prevalence of the R173W mutation.
Topics: Adolescent; Adult; DNA Mutational Analysis; Female; Humans; Hydroxymethylbilane Synthase; Male; Midd | 2006 |
Individualized workup: a new approach to the biochemical diagnosis of acute attacks of neuroporphyria.
Topics: Adolescent; Adult; Female; Humans; Male; Middle Aged; Porphobilinogen; Porphyria, Acute Intermittent | 2006 |
Acute intermittent porphyria with peripheral neuropathy: a follow-up study after hematin treatment.
Topics: Adult; Aminolevulinic Acid; DNA Mutational Analysis; Female; Follow-Up Studies; Genetic Markers; Gen | 2007 |
Safe usage of isotretinoin in a woman with latent acute intermittent porphyria.
Topics: Acne Vulgaris; Adult; Aminolevulinic Acid; Dermatologic Agents; Female; Humans; Isotretinoin; Porpho | 2007 |
[Acute porphyrias: problem of primary diagnosis in Russia and CIS countries].
Topics: Adolescent; Adult; Aminolevulinic Acid; Diagnosis, Differential; Female; Humans; Hydroxymethylbilane | 2007 |
[Management of pregnancy in women with acute porphyria. Case reports].
Topics: Adult; Arginine; Female; Follow-Up Studies; Heme; Humans; Infant, Newborn; Male; Porphobilinogen; Po | 2007 |
The case: a pregnant woman with hyponatremia.
Topics: Acute Disease; Adult; Diagnosis, Differential; Female; Humans; Hyponatremia; Inappropriate ADH Syndr | 2007 |
Hemodialysis: a therapeutic option for severe attacks of acute intermittent porphyria in developing countries.
Topics: Adolescent; Aminolevulinic Acid; Developing Countries; Female; Humans; India; Porphobilinogen; Porph | 2008 |
Elevated porphyrins following propofol anaesthesia in acute intermittent porphyria.
Topics: Adult; Aminolevulinic Acid; Anesthesia, General; Humans; Male; Porphobilinogen; Porphyria, Acute Int | 1994 |
Clinical problem-solving. Still hazy after all these years.
Topics: Abdominal Pain; Acute Disease; Adult; Diagnosis, Differential; Familial Mediterranean Fever; Female; | 1994 |
Coexistence of hereditary coproporphyria with acute intermittent porphyria.
Topics: Adolescent; Adult; Aged; Aminolevulinic Acid; Child; Female; Humans; Male; Middle Aged; Pedigree; Po | 1994 |
delta-Aminolevulinic acid effects on neuronal and glial tumor cell lines.
Topics: Aminolevulinic Acid; Cell Survival; Deferoxamine; Glioblastoma; Hemin; Humans; Nervous System Diseas | 1993 |
Mitral valve replacement in a patient with acute intermittent porphyria.
Topics: Anesthesia; Cardiopulmonary Bypass; Heart Valve Prosthesis; Humans; Hypothermia, Induced; Male; Midd | 1996 |
Severe hyponatremia due to SIADH provoked by acute intermittent porphyria.
Topics: Adult; Female; Humans; Hyponatremia; Inappropriate ADH Syndrome; Porphobilinogen; Porphyria, Acute I | 1996 |
Family study of acute intermittent porphyria and hereditary coproporphyria in Niigata and Akita Prefectures, Japan.
Topics: Adolescent; Adult; Aged; Biomarkers; Child; Coproporphyrins; Feces; Female; Humans; Japan; Male; Mid | 1996 |
Determination of 5-aminolaevulinic acid dehydratase activity in erythrocytes and porphobilinogen in urine by micellar electrokinetic capillary chromatography.
Topics: Aminolevulinic Acid; Electrophoresis, Capillary; Erythrocytes; Humans; Hydrogen-Ion Concentration; L | 1996 |
Yeast, creatinine and false diagnosis of porphyria.
Topics: Alanine Transaminase; Chromatography, High Pressure Liquid; Colorimetry; Creatinine; Diagnostic Erro | 1997 |
Molecular analysis of porphobilinogen (PBG) deaminase gene mutations in acute intermittent porphyria: first study in patients of Slavic origin.
Topics: Aminolevulinic Acid; Czech Republic; Exons; Genetic Testing; Humans; Hydroxymethylbilane Synthase; I | 1997 |
Effects of clonidine in a primed rat model of acute hepatic porphyria.
Topics: 5-Aminolevulinate Synthetase; Allylisopropylacetamide; Aminolevulinic Acid; Aminopyrine N-Demethylas | 1997 |
Measurement of urinary porphobilinogen and porphyrins: preliminary data from a pilot QA scheme.
Topics: Chemistry, Clinical; Coproporphyrins; Humans; Pilot Projects; Porphobilinogen; Porphyria Cutanea Tar | 1997 |
Effects of diabetes mellitus on patients with acute intermittent porphyria.
Topics: Age of Onset; Aged; Aged, 80 and over; Carcinoma, Hepatocellular; Diabetes Mellitus, Type 2; Female; | 1999 |
[Porphyric crisis: experience of 30 episodes].
Topics: Adolescent; Adult; Female; Hemin; Humans; Male; Middle Aged; Porphobilinogen; Porphyria, Acute Inter | 1999 |
A splicing mutation in the hydroxymethylbilane synthase gene in a Japanese family with acute intermittent porphyria.
Topics: Adult; Aminolevulinic Acid; Child, Preschool; Deoxyribonucleases, Type II Site-Specific; Erythrocyte | 1999 |
Acute intermittent porphyria presenting postmenopausally for the first time.
Topics: Diagnosis, Differential; Female; Humans; Middle Aged; Porphobilinogen; Porphyria, Acute Intermittent | 1999 |
Acute intermittent porphyria, seizures, and antiepileptic drugs: a report on a 3-year-old Nigerian boy.
Topics: Anticonvulsants; Carbamazepine; Child, Preschool; Epilepsy, Generalized; Humans; Male; Phenobarbital | 2001 |
[Anesthetic management of a patient with a history of acute intermittent porphyria and an elevation of urinary porphobilinogen].
Topics: Anesthesia, General; Arthroplasty, Replacement, Hip; Female; Femoral Neck Fractures; Humans; Middle | 2001 |
Testing for porphobilinogen in urine.
Topics: Humans; Porphobilinogen; Porphyria, Acute Intermittent; Sensitivity and Specificity | 2002 |
Mutants of Escherichia coli K12 accumulating porphobilinogen: a new locus, hemC.
Topics: Chromosome Mapping; Escherichia coli; Genes; Heme; Mutation; Porphobilinogen; Porphyria, Acute Inter | 1979 |
Family evaluations in acute intermittent porphyria using red cell uroporphyrinogen I synthetase.
Topics: Ammonia-Lyases; Erythrocytes; Female; Genes, Dominant; Humans; Hydroxymethylbilane Synthase; Male; P | 1979 |
[Uroporphyrinogen-I-synthetase in erythrocytes in acute intermittent porphyria].
Topics: Adolescent; Aminolevulinic Acid; Ammonia-Lyases; Bulgaria; Erythrocytes; Female; Humans; Hydroxymeth | 1977 |
Porphyria precipitated by fasting.
Topics: Adolescent; Fasting; Humans; Male; Porphobilinogen; Porphyria, Acute Intermittent | 1967 |