Page last updated: 2024-08-23

heme and Porphyria, Acute Intermittent

heme has been researched along with Porphyria, Acute Intermittent in 103 studies

Research

Studies (103)

TimeframeStudies, this research(%)All Research%
pre-19908 (7.77)18.7374
1990's16 (15.53)18.2507
2000's29 (28.16)29.6817
2010's31 (30.10)24.3611
2020's19 (18.45)2.80

Authors

AuthorsStudies
Erlandsen, EJ; Randers, E; Thomsen, HH; Østergaard, MGØ1
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, N1
Harper, P; Sardh, E1
Córdoba, KM; Fontanellas, A; Jericó, D; Parra-Guillen, ZP; Trocóniz, IF; Vera-Yunca, D1
Larmann, J; Lederer, D; Weigand, MA1
Amaddeo, G; Bayard, Q; Blanc, JF; Calderaro, J; Letouzé, E; Ma, X; Molina, L; Trépo, E; Zhu, J; Zucman-Rossi, J1
Testai, FD; Wylie, K1
He, J; Huang, J; Xu, J; Yi, C1
Córdoba, KM; Ena, J; Enríquez de Salamanca, R; Fontanellas, A; Jericó, D; Morales-Conejo, M; Solares, I1
Balwani, M; Bonkovsky, HL; Lim, JK; Wang, B1
Airosa Pardal, A; Brito Avô, L; Coelho Rodrigues, I; Couto, E; Ferreira, F; Filipe, P; Moreira, S; Morgado, P; Oliveira, A; Pereira, L1
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, G1
Beykirch, MK; Bronisch, O; Haverkamp, T; Petrides, PE; Stauch, T1
de Paula Brandão, PR; Titze-de-Almeida, R; Titze-de-Almeida, SS1
Fontanellas, A; Guey, LT; Hard, M; Jericó, D; Jiang, L; Martini, P; Parra-Guillen, ZP; Troconiz, IF; Vera-Yunca, D1
Anderson, KE; Chan, A; Desnick, RJ; Lahiji, AP; Ramanujam, VMS; Simon, A1
Fertrin, KY; Linenberger, M1
Aarsand, AK; Bustad, HJ; Fiorentino, V; Kallio, JP; Martinez, A; Sandberg, S; Schmitt, C; Vorland, M1
Aarsand, AK; Aguilera, P; Brunet, M; Deulofeu, R; García-Villoria, J; Gómez-Gómez, À; Pozo, OJ; Sandberg, S; To-Figueras, J; Wijngaard, R1
Beykirch, MK; Klein, M; Loehr, C; Molitor, B; Obermeier, Z; Petrides, PE; Schuhmann, E; Torkler, H1
Deguchi, K; Ikeda, K; Kamada, M; Kokudo, Y; Kume, K; Masaki, T; Takata, T; Touge, T1
Anderson, KE; Bissell, DM; Bonkovsky, HL1
Barman-Aksözen, J; Huber, LC; Minder, E; Senn, JD1
Batlle, AMDC; Buzaleh, AM; Gerez, EN; Lavandera, JV; Martínez, MDC; Oliveri, LM; Ruspini, SF; Zuccoli, JR1
Friesema, ECH; Koole-Lesuis, RH; Langendonk, JG; Mijnhout, GS; Neeleman, RA; Wagenmakers, MAEM; Wilson, JHP1
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, X1
Chen, B; Cody, N; Desnick, RJ; Loskove, Y; Nazarenko, I; Yasuda, M1
Deybach, JC; Gouya, L; Karim, Z; Manceau, H; Peoc'h, K; Puy, H; Wahlin, S1
Chen, B; Desnick, RJ; Yasuda, M1
Bonkovsky, HL; Desnick, RJ; Gan, L; Pulgar, VM; Yasuda, M1
Bonkovsky, HL; Dixon, N; Dozier, S; Faust, D; Li, T; Marion, B; Molina, A; Rudnick, S1
Chen, XY; Dong, XH; Li, Y; Wang, Y; Xu, F1
Phillips, JD1
Bonkovsky, HL; Caballes, FR; Finkielstein, CV; Groseclose, G; Hwang, SI; Larion, S; Lee, JG; Li, T; Maddukuri, V; Parsons, J; Rossman, WE; Steuerwald, N1
Albertyn, CH; Bryer, A; Corrigall, A; Heckmann, JM; Meissner, P; Sonderup, M1
Bissell, DM; Blanc, PD; Lai, JC; Meister, RK1
Hergüner, Ö; Mungan, NÖ; Nazoglu, S; Öktem, M; Turgut, M; Yildizdas, D; Yilmaz, BS1
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, C1
Dosi, R; Joshi, H; Patell, R; Shah, P; Tripathi, R1
Deybach, JC; Gouya, L; Martin-Schmitt, C; Peoc'h, K; Puy, H; Talbi, N1
Beaudry, MS; Burk-McCoy, E; Dustin, JP; He, X; Nadeau, LE; Neverett, ER; Pearson, BJ; Pellettieri, J; Stubenhaus, BM1
Balwani, M; Chen, B; Debnath, EM; Desnick, RJ; Doheny, D; Naik, H; Seth, A; Singh, P; Yasuda, M1
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, JA1
Bonkovsky, HL; Donohue, SE; Lambrecht, RW; Shan, Y; Zheng, J1
Andersson, DE; Floderus, Y; Harper, P; Sardh, E1
Cappellini, MD; Rocchi, E; Ventura, P1
Brosche, C; Doss, MO; Koszka, C; Stauch, T; Stölzel, U; Teubner, A1
Arnardottir, S; Asgeirsson, H; Birgisdottir, BT; Jonsson, JJ; Vidarsson, B1
Marsden, JT; Rees, DC1
Brun, A; Hift, RJ; Thunell, S1
Kiernan, MC; Lee, MJ; Lin, CS; Park, SB1
Enríquez de Salamanca, R; Fontanellas, A; Harper, P; Mauleón, I; Prieto, J; Salido, E; Sampedro, A; Sardh, E; Unzu, C1
Badminton, MN; Barth, JH; Cox, TM; Rees, DC; Sarkany, R; Stein, PE; Stewart, MF1
Faut, M; Mazzetti, MB; Paiz, A; San Martín de Viale, LC1
Andersson, C; Bäckström, T; Nilsson, A1
Biolcati, G; Cappellini, MD; Danielli, MG; Di Pierro, E; Martinez di Montemuros, F; Patti, E; Rocchi, E; Tavazzi, D1
Karpova, IV; Luchinina, IuA; Luk'ianenko, AV; Pivnik, AV; Pustovoĭt, IaS; Surin, VL1
Harper, P; Johansson, A; Möller, C1
CANIVET, J1
Hasui, Y; Ikeda, M; Tanabe, H1
Hift, RJ; Meissner, PN1
Bozek, P; Buranová, D; Kollár, B; Mikulecký, M; Traubner, P; Varsik, P1
Chen, WJ; Fang, CC; Lai, TI; Lien, WC; Liu, YP; Wang, HP1
Herrick, AL; McColl, KE1
Lelli, SM; Mazzetti, MB; San Martín de Viale, LC1
Florkowski, C; George, P; Potter, H; Sies, C1
Cherem, JH; Malagon, J; Nellen, H1
Bonkovsky, HL1
Badminton, MN; Deybach, JC1
Bianketti, J; Gregor, A; Lipniacka, A; Szlendak, U1
Jordan, PM; Lambert, R; Wood, S1
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, MIu1
Borie, MJ; Chauvet, MA; Corcia, P; Diot, E; Maillot, F; Zannad, N1
Flachsová, E; Martásek, P; Raman, CS; Saudek, V; Saxena, R; Ulbrichová, D; Verma, IC; Zeman, J1
Romeo, G1
Fuchs, T; Ippen, H1
Sugimura, K1
Batlle, AM; Caballero, FA; Gerez, EN; Polo, CF; Vázquez, ES1
Astrin, KH; Desnick, RJ1
Elder, GH1
Bharathi, KC; Mamatha, P; Muthane, UB; Vengamma, B1
Baudry, P; Callebert, J; Deybach, JC; Nordmann, Y; Puy, H; Touitou, Y1
Mustajoki, P; Nordmann, Y1
Baumgartner, M; Bogdan, A; Callebert, J; Deybach, JC; Nordmann, Y; Puy, H; Touitou, Y; Voisin, P1
Schreiber, WE1
Bechara, EJ1
Doss, MO; Frank, M; Gross, U; Jacob, K1
Andersson, C; Bjersing, L; Lithner, F1
Deybach, JC; Doss, MO; Frank, M; Gross, U; Jacob, K; Nordmann, Y; Sassa, S1
Bogard, C; Deybach, JC1
Daimon, M; Hirata, A; Kato, T; Kitagawa, M; Manaka, H; Morita, Y; Sasaki, H; Susa, S1
Daimon, M; Igarashi, M; Kameda, W; Kato, T; Susa, S1
Hoffmann, F; Lindberg, RL; Meyer, UA; Schuurmans, MM1
Elder, GH; Hift, RJ1
Benestad, Y; Brun, A; Danielsen, OK; Iversen, IR; Sandberg, S; Skadberg, Ø1
Brekke, OL; Nielsen, EW; Tollåli, G1
Badminton, MN; Elder, GH1
Charles, HP; McConville, ML1
Meyer, UA1
Doss, MO1
Billett, HH1
Rimington, C1

Reviews

32 review(s) available for heme and Porphyria, Acute Intermittent

ArticleYear
RNAi therapy with givosiran significantly reduces attack rates in acute intermittent porphyria.
    Journal of internal medicine, 2022, Volume: 291, Issue:5

    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.
    Current neurology and neuroscience reports, 2022, Volume: 22, Issue:7

    Topics: Heme; Humans; Neuralgia; Porphyria, Acute Intermittent; Porphyrias; Porphyrias, Hepatic; Posterior Leukoencephalopathy Syndrome

2022
Understanding Carbohydrate Metabolism and Insulin Resistance in Acute Intermittent Porphyria.
    International journal of molecular sciences, 2022, Dec-20, Volume: 24, Issue:1

    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.
    Gastroenterology, 2023, Volume: 164, Issue:3

    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.
    Molecular diagnosis & therapy, 2020, Volume: 24, Issue:1

    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.
    International journal of molecular sciences, 2021, Jan-12, Volume: 22, Issue:2

    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.
    The New England journal of medicine, 2017, Aug-31, Volume: 377, Issue:9

    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?]
    Praxis, 2018, Volume: 107, Issue:3

    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.
    Molecular genetics and metabolism, 2019, Volume: 128, Issue:3

    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.
    Molecular genetics and metabolism, 2019, Volume: 128, Issue:3

    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].
    La Revue de medecine interne, 2016, Volume: 37, Issue:3

    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.
    Molecular genetics and metabolism, 2016, Volume: 119, Issue:4

    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].
    Laeknabladid, 2010, Volume: 96, Issue:6

    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.
    Pharmacology & therapeutics, 2011, Volume: 132, Issue:2

    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.
    Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology, 2011, Volume: 122, Issue:12

    Topics: Animals; Heme; Humans; Hydroxymethylbilane Synthase; Mice; Mutation; Peripheral Nervous System Diseases; Pigments, Biological; Porphyria, Acute Intermittent

2011
[Porphyria].
    Ryoikibetsu shokogun shirizu, 2003, Issue:40

    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.
    Best practice & research. Clinical gastroenterology, 2005, Volume: 19, Issue:2

    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.
    The New Zealand medical journal, 2005, Sep-16, Volume: 118, Issue:1222

    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.
    Molecular medicine today, 1995, Volume: 1, Issue:5

    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.
    Progress in medical genetics, 1980, Volume: 4

    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].
    Nihon rinsho. Japanese journal of clinical medicine, 1995, Volume: 53, Issue:6

    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.
    Human mutation, 1994, Volume: 4, Issue:4

    Topics: Chromosome Mapping; DNA Mutational Analysis; Heme; Humans; Hydroxymethylbilane Synthase; Mutation; Polymorphism, Genetic; Porphyria, Acute Intermittent

1994
Molecular genetics of disorders of haem biosynthesis.
    Journal of clinical pathology, 1993, Volume: 46, Issue:11

    Topics: Anemia, Sideroblastic; Genes, Dominant; Genes, Recessive; Heme; Humans; Porphyria, Acute Intermittent; Porphyrias

1993
Acute intermittent porphyria: laboratory diagnosis by molecular methods.
    Clinics in laboratory medicine, 1995, Volume: 15, Issue:4

    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.
    Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas, 1996, Volume: 29, Issue:7

    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].
    Annales de biologie clinique, 1998, Volume: 56 Spec No

    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.
    Hospital medicine (London, England : 1998), 2001, Volume: 62, Issue:7

    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].
    Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke, 2002, Apr-30, Volume: 122, Issue:11

    Topics: Female; Heme; Humans; Male; Norway; Porphyria, Acute Intermittent; Pregnancy

2002
Management of acute and cutaneous porphyrias.
    International journal of clinical practice, 2002, Volume: 56, Issue:4

    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.
    Progress in liver diseases, 1976, Volume: 5

    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.
    Hospital practice (Office ed.), 1988, Sep-30, Volume: 23, Issue:9A

    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.
    Scandinavian journal of clinical and laboratory investigation, 1985, Volume: 45, Issue:4

    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

Trials

3 trial(s) available for heme and Porphyria, Acute Intermittent

ArticleYear
Evaluating the Patient-Reported Outcomes Measurement Information System scales in acute intermittent porphyria.
    Genetics in medicine : official journal of the American College of Medical Genetics, 2020, Volume: 22, Issue:3

    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.
    Annals of hematology, 2019, Volume: 98, Issue:12

    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.
    European journal of internal medicine, 2009, Volume: 20, Issue:2

    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

Other Studies

68 other study(ies) available for heme and Porphyria, Acute Intermittent

ArticleYear
Peritoneal dialysis resulting in discontinuance of recurring attacks of acute intermittent porphyria: A case report.
    Seminars in dialysis, 2022, Volume: 35, Issue:1

    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.
    Molecular genetics and metabolism, 2022, Volume: 135, Issue:3

    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.
    British journal of pharmacology, 2022, Volume: 179, Issue:14

    Topics: Aminolevulinic Acid; Animals; Disease Models, Animal; Heme; Mice; Mice, Inbred C57BL; Porphyria, Acute Intermittent; Recombinant Proteins

2022
[Anesthesia in patients with acute porphyria].
    Der Anaesthesist, 2022, Volume: 71, Issue:4

    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.
    Journal of hepatology, 2022, Volume: 77, Issue:4

    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.
    Clinical laboratory, 2022, Sep-01, Volume: 68, Issue:9

    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.
    Acta medica portuguesa, 2023, Nov-02, Volume: 36, Issue:11

    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.
    British journal of pharmacology, 2020, Volume: 177, Issue:14

    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.
    Molecular genetics and metabolism, 2020, Volume: 131, Issue:4

    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.
    Hematology. American Society of Hematology. Education Program, 2020, 12-04, Volume: 2020, Issue:1

    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.
    Journal of inherited metabolic disease, 2021, Volume: 44, Issue:4

    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?
    Annals of hematology, 2021, Volume: 100, Issue:7

    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.
    Internal medicine (Tokyo, Japan), 2017, Volume: 56, Issue:6

    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.
    Biochimica et biophysica acta. General subjects, 2018, Volume: 1862, Issue:6

    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.
    Journal of inherited metabolic disease, 2018, Volume: 41, Issue:5

    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.
    Nature medicine, 2018, Volume: 24, Issue:12

    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.
    Molecular genetics and metabolism, 2019, Volume: 128, Issue:3

    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.
    Molecular genetics and metabolism, 2019, Volume: 128, Issue:3

    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.
    Molecular genetics and metabolism, 2019, Volume: 128, Issue:3

    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.
    Molecular genetics and metabolism, 2019, Volume: 128, Issue:3

    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].
    Zhonghua nei ke za zhi, 2019, Jul-01, Volume: 58, Issue:7

    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.
    European journal of clinical investigation, 2013, Volume: 43, Issue:7

    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.
    South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde, 2014, Volume: 104, Issue:4

    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.
    The American journal of medicine, 2015, Volume: 128, Issue:3

    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.
    Pediatric annals, 2015, Volume: 44, Issue:4

    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.
    Molecular medicine (Cambridge, Mass.), 2015, Jun-05, Volume: 21

    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.
    Tropical doctor, 2016, Volume: 46, Issue:3

    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.
    eLife, 2016, 05-31, Volume: 5

    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.
    PloS one, 2016, Volume: 11, Issue:10

    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.
    Molecular and cellular biochemistry, 2008, Volume: 319, Issue:1-2

    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.
    Internal and emergency medicine, 2009, Volume: 4, Issue:4

    Topics: Arginine; Diagnostic Errors; Emergency Medicine; Heme; Humans; Internal Medicine; Porphyria, Acute Intermittent

2009
Safe and probably safe drugs in acute hepatic porphyria.
    Cellular and molecular biology (Noisy-le-Grand, France), 2009, Jul-01, Volume: 55, Issue:2

    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.
    Journal of inherited metabolic disease, 2010, Volume: 33, Issue:5

    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.
    PloS one, 2012, Volume: 7, Issue:3

    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.
    Clinical medicine (London, England), 2012, Volume: 12, Issue:3

    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.
    Experimental biology and medicine (Maywood, N.J.), 2013, Volume: 238, Issue:2

    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].
    MMW Fortschritte der Medizin, 2002, May-23, Volume: 144, Issue:21

    Topics: Abdominal Pain; Arginine; Colic; Diagnosis, Differential; Heme; Humans; Porphyria, Acute Intermittent

2002
Atypical attack of acute intermittent porphyria--paresis but no abdominal pain.
    Journal of internal medicine, 2002, Volume: 252, Issue:3

    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.
    Cellular and molecular biology (Noisy-le-Grand, France), 2002, Volume: 48, Issue:8

    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].
    Terapevticheskii arkhiv, 2003, Volume: 75, Issue:7

    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.
    Molecular and cellular biochemistry, 2003, Volume: 250, Issue:1-2

    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].
    Bulletins et memoires de la Societe medicale des hopitaux de Paris, 1964, Nov-13, Volume: 115

    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.
    Medicine, 2005, Volume: 84, Issue:1

    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.
    Neuro endocrinology letters, 2005, Volume: 26, Issue:1

    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.
    The American journal of emergency medicine, 2005, Volume: 23, Issue:2

    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.
    Toxicology, 2005, Volume: 216, Issue:1

    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.
    Annals of internal medicine, 2005, Nov-01, Volume: 143, Issue:9

    Topics: 5-Aminolevulinate Synthetase; Adult; Cimetidine; Female; Heme; Humans; Porphyria, Acute Intermittent

2005
Neurovisceral porphyrias: what a hematologist needs to know.
    Hematology. American Society of Hematology. Education Program, 2005

    Topics: Coproporphyria, Hereditary; Erythrocytes; Heme; Humans; Porphobilinogen Synthase; Porphyria, Acute Intermittent; Porphyrias

2005
Treatment of an acute attack of porphyria during pregnancy.
    European journal of neurology, 2006, Volume: 13, Issue:6

    Topics: Abortion, Induced; Arginine; Female; Heme; Humans; Porphyria, Acute Intermittent; Pregnancy; Pregnancy Complications, Infectious

2006
[Acute intermittent porphyria and oral contraception. Case report].
    Ginekologia polska, 2006, Volume: 77, Issue:3

    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].
    Terapevticheskii arkhiv, 2007, Volume: 79, Issue:8

    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].
    Revue neurologique, 2007, Volume: 163, Issue:11

    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.
    Folia biologica, 2007, Volume: 53, Issue:6

    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.
    Clinics in haematology, 1980, Volume: 9, Issue:2

    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.
    Chemico-biological interactions, 1995, Apr-14, Volume: 95, Issue:3

    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.
    Journal of internal medicine, 1993, Volume: 234, Issue:6

    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.
    Life sciences, 1993, Volume: 53, Issue:8

    Topics: Adult; Arginine; Circadian Rhythm; Female; Heme; Humans; Melatonin; Porphyria, Acute Intermittent; Recurrence; Tryptophan

1993
Early administration of heme arginate for acute porphyric attacks.
    Archives of internal medicine, 1993, Sep-13, Volume: 153, Issue:17

    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.
    The Journal of clinical investigation, 1996, Jan-01, Volume: 97, Issue:1

    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.
    Cellular and molecular biology (Noisy-le-Grand, France), 1997, Volume: 43, Issue:1

    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.
    Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology, 1996, Volume: 5, Issue:5

    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.
    Clinical chemistry, 1998, Volume: 44, Issue:9

    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.
    Neuroradiology, 1999, Volume: 41, Issue:11

    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.
    The American journal of medicine, 2001, Feb-15, Volume: 110, Issue:3

    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.
    Hepatology (Baltimore, Md.), 2001, Volume: 33, Issue:5

    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].
    Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke, 2001, Oct-10, Volume: 121, Issue:24

    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.
    Journal of general microbiology, 1979, Volume: 111, Issue:1

    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.
    European journal of clinical investigation, 1989, Volume: 19, Issue:1

    Topics: Adult; Erythrocytes; Female; Heme; Humans; Hydroxymethylbilane Synthase; Liver Diseases; Male; Middle Aged; Porphyria, Acute Intermittent; Porphyrias; Skin Diseases; Uroporphyrinogen Decarboxylase

1989