Page last updated: 2024-08-23

heme and Erythrohepatic Protoporphyria

heme has been researched along with Erythrohepatic Protoporphyria in 37 studies

Research

Studies (37)

TimeframeStudies, this research(%)All Research%
pre-19909 (24.32)18.7374
1990's4 (10.81)18.2507
2000's9 (24.32)29.6817
2010's11 (29.73)24.3611
2020's4 (10.81)2.80

Authors

AuthorsStudies
Heerfordt, IM; Lerche, CM; Wulf, HC1
Dickey, AK; Leaf, RK1
Bailey, HJ; Bezerra, GA; Bishop, DF; Bulusu, G; Dailey, HA; Desnick, RJ; Foster, WR; Marcero, JR; Padhi, S; Rembeza, E; Roy, A; Yue, WW1
Fertrin, KY; Linenberger, M1
Anderson, KE; Bissell, DM; Bonkovsky, HL1
Balwani, M; Chen, B; Desnick, RJ; Nazarenko, I; Weiss, Y; Yasuda, M1
Chen, B; Desnick, RJ; Yasuda, M1
Balwani, M1
Cuny, JF1
Burgio, G; David, P; Deybach, JC; Foote, SJ; Goodman, CD; Gouya, L; Jerkovic, A; Manceau, H; McFadden, GI; McMorran, BJ; Mercereau-Puijalon, O; Puy, H; Smith, CM; Sturm, A; van Dooren, G; Winship, I1
Farrag, MS; Kučerová, J; Martásek, P; Šeda, O; Šlachtová, L; Šperl, J1
Kauppinen, R; Pischik, E1
Campagna, DR; Fleming, MD; Justice, MJ; Tian, M; Woodward, LS1
Afonso, SG; Batlle, A; Buzaleh, AM; Martinez, Mdel C; Meiss, RP1
Bolsen, K; Gardlo, K; Hanneken, S; Neumann, NJ; Siegesmund, M1
Kaplan, J; Khalimonchuk, O; Paw, BH; Phillips, J; Spangrude, GJ; Thomas, K; Troadec, MB; Wallace, J; Ward, DM; Warner, D1
Bishop, DF; Fraser, ME; Hoffbrand, AV; Margolis, S; Tchaikovskii, V1
Chuah, SY; Pramono, ZA; Tee, SI; Theng, CT1
PORTER, FS1
Barker, CR; Chernova, T; Clothier, B; Davies, R; Dinsdale, D; Edwards, RE; Gant, TW; Greaves, P; Higginson, FM; Judah, DJ; Schuurman, A; Smith, AG1
Chen, JJ; Fleming, MD; Han, AP1
Florkowski, C; George, P; Potter, H; Sies, C1
Sassa, S1
Chen, JJ1
Abitbol, M; Deybach, JC; Guénet, JL; Montagutelli, X; Puy, H; Sabaté, JM1
Romeo, G1
Beaumont, C; Da Silva, V; Deybach, JC; Gouya, L; Grandchamp, B; Lamoril, J; Nordmann, Y1
Inokuchi, H; Nakayashiki, T1
Rutherford, TR; Weatherall, DJ1
Balachandran, S; Buck, ED; Carpentieri, U; Haggard, ME; Minguell, JJ1
Becker, DM; Bernstein, R; Cayanis, E; Dawson, B; Kramer, S; Viljoen, DJ1
Becker, DM; Kramer, S; Viljoen, JD1
Bloomer, JR; Hill, HD; Kools, AM; Straka, JG1
Elder, GH; Tovey, JA1
Hindmarsh, JT1
Tangerås, A1
Rimington, C1

Reviews

12 review(s) available for heme and Erythrohepatic Protoporphyria

ArticleYear
Cimetidine for erythropoietic protoporphyria.
    Photodiagnosis and photodynamic therapy, 2022, Volume: 38

    Topics: Cimetidine; Ferrochelatase; Heme; Humans; Photochemotherapy; Photosensitivity Disorders; Protoporphyria, Erythropoietic; Protoporphyrins

2022
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
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
Erythropoietic Protoporphyria and X-Linked Protoporphyria: pathophysiology, genetics, clinical manifestations, and management.
    Molecular genetics and metabolism, 2019, Volume: 128, Issue:3

    Topics: 5-Aminolevulinate Synthetase; Anemia; Clinical Trials as Topic; Dermatitis, Phototoxic; Disease Management; Genes, X-Linked; Heme; Humans; Liver Diseases; Porphyrias, Hepatic; Protoporphyria, Erythropoietic

2019
[The cutaneous porphyrias].
    Annales de dermatologie et de venereologie, 2019, Volume: 146, Issue:2

    Topics: Biopsy; Coproporphyria, Hereditary; Diagnosis, Differential; Heme; Humans; Photosensitivity Disorders; Porphyria Cutanea Tarda; Porphyria, Erythropoietic; Porphyrias; Protoporphyria, Erythropoietic; Skin; Skin Diseases, Metabolic

2019
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
Modern diagnosis and management of the porphyrias.
    British journal of haematology, 2006, Volume: 135, Issue:3

    Topics: Acute Disease; Chronic Disease; Coproporphyria, Hereditary; Heme; Humans; Porphobilinogen Synthase; Porphyria Cutanea Tarda; Porphyria, Erythropoietic; Porphyria, Hepatoerythropoietic; Porphyria, Variegate; Porphyrias; Porphyrias, Hepatic; Protoporphyria, Erythropoietic

2006
Regulation of protein synthesis by the heme-regulated eIF2alpha kinase: relevance to anemias.
    Blood, 2007, Apr-01, Volume: 109, Issue:7

    Topics: Anemia; Anemia, Hypochromic; Anemia, Iron-Deficiency; Animals; beta-Thalassemia; Blood Proteins; eIF-2 Kinase; Enzyme Activation; Erythropoiesis; Heme; Humans; Mice; Models, Biological; Protoporphyria, Erythropoietic; Signal Transduction

2007
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
Heme synthesis in protoporphyria.
    Current problems in dermatology, 1991, Volume: 20

    Topics: Animals; Heme; Humans; Liver Diseases; Photosensitivity Disorders; Porphyrias; Protoporphyria, Erythropoietic; Protoporphyrins

1991
The porphyrias: recent advances.
    Clinical chemistry, 1986, Volume: 32, Issue:7

    Topics: Acute Disease; Adult; Child; Chromatography, High Pressure Liquid; Diagnosis, Differential; Erythrocytes; Heme; Humans; Infant, Newborn; Lead Poisoning; Liver Diseases; Porphobilinogen Synthase; Porphyria, Erythropoietic; Porphyrias; Porphyrias, Hepatic; Porphyrins; Protoporphyria, Erythropoietic; Skin Diseases; Uroporphyrinogen Decarboxylase

1986
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

1 trial(s) available for heme and Erythrohepatic Protoporphyria

ArticleYear
The prognostic value of cord blood analysis in erythropoietic protoporphyria: the 'Duesseldorf Cord Blood Study'.
    Photodermatology, photoimmunology & photomedicine, 2010, Volume: 26, Issue:1

    Topics: Erythrocytes; Female; Ferrochelatase; Fetal Blood; Follow-Up Studies; Germany; Heme; Humans; Infant, Newborn; Male; Predictive Value of Tests; Prognosis; Protoporphyria, Erythropoietic; Protoporphyrins

2010

Other Studies

24 other study(ies) available for heme and Erythrohepatic Protoporphyria

ArticleYear
How I treat erythropoietic protoporphyria and X-linked protoporphyria.
    Blood, 2023, Jun-15, Volume: 141, Issue:24

    Topics: Ferrochelatase; Heme; Humans; Liver Diseases; Photosensitivity Disorders; Protoporphyria, Erythropoietic; Protoporphyrins

2023
Human aminolevulinate synthase structure reveals a eukaryotic-specific autoinhibitory loop regulating substrate binding and product release.
    Nature communications, 2020, 06-04, Volume: 11, Issue:1

    Topics: 5-Aminolevulinate Synthetase; Acyl Coenzyme A; Catalysis; Catalytic Domain; Crystallography, X-Ray; Gene Expression Regulation, Enzymologic; Genetic Diseases, X-Linked; Heme; Humans; Kinetics; Molecular Dynamics Simulation; Protein Binding; Protein Conformation; Protein Domains; Protoporphyria, Erythropoietic; Substrate Specificity

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
Congenital erythropoietic porphyria and erythropoietic protoporphyria: Identification of 7 uroporphyrinogen III synthase and 20 ferrochelatase novel mutations.
    Molecular genetics and metabolism, 2019, Volume: 128, Issue:3

    Topics: Family; Female; Ferrochelatase; Genetic Carrier Screening; Genetic Heterogeneity; Heme; Humans; Male; Molecular Diagnostic Techniques; Mutation; Photosensitivity Disorders; Porphyria, Erythropoietic; Protoporphyria, Erythropoietic; Uroporphyrinogen III Synthetase

2019
Red cells from ferrochelatase-deficient erythropoietic protoporphyria patients are resistant to growth of malarial parasites.
    Blood, 2015, Jan-15, Volume: 125, Issue:3

    Topics: Animals; Erythrocytes; Female; Ferrochelatase; Heme; Humans; Malaria, Falciparum; Male; Mice; Mice, Inbred C57BL; Phenotype; Plasmodium berghei; Protoporphyria, Erythropoietic; Protoporphyrins

2015
A Novel Mutation in the FECH Gene in a Czech Family with Erythropoietic Protoporphyria and a Population Study of IVS3-48C Variant Contributing to the Disease.
    Folia biologica, 2015, Volume: 61, Issue:6

    Topics: Adolescent; Adult; Amino Acid Sequence; Base Sequence; Biosynthetic Pathways; Czech Republic; DNA; DNA Mutational Analysis; Erythrocytes; Family; Female; Ferrochelatase; Genetic Predisposition to Disease; Genome, Human; Heme; Humans; Male; Molecular Sequence Data; Mutation; Pedigree; Polymorphism, Genetic; Protoporphyria, Erythropoietic; Protoporphyrins

2015
Lead poisoning from the beauty case: neurologic manifestations in an elderly woman.
    Neurology, 2008, Jul-22, Volume: 71, Issue:4

    Topics: Aged; Aminolevulinic Acid; Anemia, Macrocytic; Causality; Diagnostic Errors; Erythrocytes; Female; Heme; Humans; Lead Poisoning, Nervous System, Adult; Peripheral Nerves; Peripheral Nervous System Diseases; Porphyrins; Protoporphyria, Erythropoietic; Protoporphyrins

2008
hem6: an ENU-induced recessive hypochromic microcytic anemia mutation in the mouse.
    Blood, 2008, Nov-15, Volume: 112, Issue:10

    Topics: 5-Aminolevulinate Synthetase; Anemia, Hypochromic; Animals; Crosses, Genetic; Female; Gene Expression Regulation, Enzymologic; Hematopoiesis; Heme; Iron; Male; Mice; Mice, Mutant Strains; Protoporphyria, Erythropoietic; Reticulocytes

2008
Hepatic damage and oxidative stress induced by Griseofulvin in mice.
    Cellular and molecular biology (Noisy-le-Grand, France), 2009, Jul-01, Volume: 55, Issue:2

    Topics: Animals; Antifungal Agents; Aryl Hydrocarbon Hydroxylases; Cytochrome P-450 CYP2A6; Cytochrome P-450 CYP3A; Disease Models, Animal; Griseofulvin; Heme; Heme Oxygenase (Decyclizing); Immunohistochemistry; Liver; Male; Mice; Oxidative Stress; Protoporphyria, Erythropoietic; Protoporphyrins; Tryptophan Oxygenase

2009
Targeted deletion of the mouse Mitoferrin1 gene: from anemia to protoporphyria.
    Blood, 2011, May-19, Volume: 117, Issue:20

    Topics: Anemia; Animals; Base Sequence; DNA Primers; Embryo Loss; Female; Gene Targeting; Heme; Hepatocytes; Iron; Male; Membrane Transport Proteins; Mice; Mice, Inbred C57BL; Mice, Knockout; Mitochondria; Pregnancy; Protoporphyria, Erythropoietic; Protoporphyrins

2011
X-linked sideroblastic anemia due to carboxyl-terminal ALAS2 mutations that cause loss of binding to the β-subunit of succinyl-CoA synthetase (SUCLA2).
    The Journal of biological chemistry, 2012, Aug-17, Volume: 287, Issue:34

    Topics: 5-Aminolevulinate Synthetase; Adult; Amino Acid Substitution; Anemia, Sideroblastic; Enzyme Stability; Genetic Diseases, X-Linked; Heme; Humans; Male; Mutation, Missense; Protein Binding; Protoporphyria, Erythropoietic; Succinate-CoA Ligases; Vitamin B 6

2012
Genetic study in a Singaporean patient with erythropoietic protoporphyria.
    Photodermatology, photoimmunology & photomedicine, 2012, Volume: 28, Issue:5

    Topics: Adult; Alleles; Asian People; Ferrochelatase; Heme; Humans; Male; Photosensitivity Disorders; Protoporphyria, Erythropoietic; Protoporphyrins; Singapore; Sunlight

2012
CONGENITAL ERYTHROPOIETIC PROTOPORPHYRIA. II. AN EXPERIMENTAL STUDY.
    Blood, 1963, Volume: 22

    Topics: Animals; Birds; Bone Marrow Examination; Chromatography; Erythropoiesis; Fluorescence; Heme; Metabolism; Porphyrias; Porphyrins; Protoporphyria, Erythropoietic; Research; Spectrophotometry

1963
Hepatic gene expression in protoporphyic Fech mice is associated with cholestatic injury but not a marked depletion of the heme regulatory pool.
    The American journal of pathology, 2005, Volume: 166, Issue:4

    Topics: Aging; Animals; Antifungal Agents; Cholestasis; Disease Models, Animal; Gene Expression; Gene Expression Profiling; Gene Expression Regulation; Griseofulvin; Heme; Hemeproteins; Immunoblotting; Liver; Male; Mice; Protoporphyria, Erythropoietic; Protoporphyrins; Reverse Transcriptase Polymerase Chain Reaction

2005
Heme-regulated eIF2alpha kinase modifies the phenotypic severity of murine models of erythropoietic protoporphyria and beta-thalassemia.
    The Journal of clinical investigation, 2005, Volume: 115, Issue:6

    Topics: Animals; beta-Thalassemia; Disease Models, Animal; eIF-2 Kinase; Erythrocytes; Eukaryotic Initiation Factor-2; Globins; Heat Stress Disorders; Heme; Humans; Mice; Mice, Knockout; Oxidative Stress; Phenotype; Protein Biosynthesis; Protoporphyria, Erythropoietic

2005
Ursodesoxycholic acid and heme-arginate are unable to improve hematopoiesis and liver injury in an erythropoietic protoporphyria mouse model.
    Physiological research, 2006, Volume: 55 Suppl 2

    Topics: Animals; Arginine; Cholagogues and Choleretics; Disease Models, Animal; Hematopoiesis; Heme; Injections, Intraperitoneal; Liver; Mice; Mice, Transgenic; Protoporphyria, Erythropoietic; Ursodeoxycholic Acid

2006
Modulation of the phenotype in dominant erythropoietic protoporphyria by a low expression of the normal ferrochelatase allele.
    American journal of human genetics, 1996, Volume: 58, Issue:2

    Topics: Base Sequence; Cells, Cultured; DNA Primers; Electrophoresis, Polyacrylamide Gel; Female; Ferrochelatase; Gene Expression; Genes, Dominant; Genotype; Heme; Humans; Male; Molecular Sequence Data; Mutation; Pedigree; Phenotype; Photosensitivity Disorders; Polymerase Chain Reaction; Polymorphism, Genetic; Porphyria, Hepatoerythropoietic; Protoporphyria, Erythropoietic; Sequence Analysis, DNA; Sequence Deletion

1996
Effects of starvation for heme on the synthesis of porphyrins in Escherichia coli.
    Molecular & general genetics : MGG, 1997, Volume: 255, Issue:4

    Topics: Aldehyde Oxidoreductases; Aminolevulinic Acid; Butanols; Escherichia coli; Gene Expression Regulation, Bacterial; Guanosine Tetraphosphate; Heme; Porphyrins; Protoporphyria, Erythropoietic

1997
Deficient heme synthesis as the cause of noninducibility of hemoglobin synthesis in a Friend erythroleukemia cell line.
    Cell, 1979, Volume: 16, Issue:2

    Topics: Animals; Cell Line; Erythropoiesis; Friend murine leukemia virus; Globins; Heme; Hemin; Hemoglobins; Leukemia, Erythroblastic, Acute; Leukemia, Experimental; Lyases; Mice; Protein Biosynthesis; Protoporphyria, Erythropoietic; RNA, Messenger

1979
Ferrochelatase deficiency in an infant with anemia and growth delay.
    Pediatrics, 1979, Volume: 63, Issue:5

    Topics: Anemia, Hypochromic; Growth Disorders; Heme; Hemosiderosis; Humans; Infant; Lyases; Male; Protoporphyria, Erythropoietic

1979
Reduced ferrochelatase activity in fibroblasts from patients with porphyria variegata.
    American journal of hematology, 1979, Volume: 6, Issue:3

    Topics: Fibroblasts; Heme; Humans; Lyases; Porphyrias; Protoporphyria, Erythropoietic

1979
Enzyme deficiencies in the porphyrias.
    British journal of haematology, 1977, Volume: 37, Issue:4

    Topics: 5-Aminolevulinate Synthetase; Enzymes; Heme; Humans; Liver; Oxidoreductases; Porphyria, Erythropoietic; Porphyrias; Protoporphyria, Erythropoietic

1977
Ferrochelatase activity in human lymphocytes: effect of storage on haem formation.
    Annals of clinical biochemistry, 1990, Volume: 27 ( Pt 1)

    Topics: Blood Specimen Collection; Ferrochelatase; Heme; Humans; Lyases; Lymphocytes; Mitogens; Porphyrias; Protoporphyria, Erythropoietic

1990
Effect of decreased ferrochelatase activity on iron and porphyrin content in mitochondria of mice with porphyria induced by griseofulvin.
    Biochimica et biophysica acta, 1986, Jun-03, Volume: 882, Issue:1

    Topics: Animals; Chemical and Drug Induced Liver Injury; Griseofulvin; Heme; Iron; Liver Diseases; Lyases; Mice; Mitochondria, Liver; Oxidative Phosphorylation; Oxygen Consumption; Porphyrias; Porphyrins; Protoporphyria, Erythropoietic

1986