Page last updated: 2024-08-23

heme and Congenital Erythropoietic Porphyria

heme has been researched along with Congenital Erythropoietic Porphyria in 26 studies

Research

Studies (26)

TimeframeStudies, this research(%)All Research%
pre-19903 (11.54)18.7374
1990's5 (19.23)18.2507
2000's9 (34.62)29.6817
2010's8 (30.77)24.3611
2020's1 (3.85)2.80

Authors

AuthorsStudies
Davies, SM; Gloude, NJ; Lucky, AW; Nelson, AS; Wang, YM1
Kakoullis, L; Louppides, S; Panos, G; Papachristodoulou, E1
Balwani, M; Chen, B; Desnick, RJ; Nazarenko, I; Weiss, Y; Yasuda, M1
Desnick, RJ; Erwin, AL1
Cuny, JF1
Fujiwara, T; Harigae, H1
Brancaleoni, V; Di Pierro, E; Granata, F1
Gouya, L; Manceau, H; Puy, H1
Bose, S; Darlong, V; Kumar, M; Punj, J1
Balwani, M; Desnick, RJ1
Murphy, GM1
Karpova, IV; Luchinina, IuA; Luk'ianenko, AV; Pivnik, AV; Pustovoĭt, IaS; Surin, VL1
Brand, HS; Kooijman, MM1
Florkowski, C; George, P; Potter, H; Sies, C1
Bishop, DF; Caro, A; Desnick, RJ; Johansson, A; Phelps, R; Ramirez, MC; Shady, AA; Yasuda, M1
Sassa, S1
Adler, J; Inokuchi, H; Yang, H1
Jensen, JD; Resnick, SD1
Astrin, KH; Desnick, RJ; Xu, W1
Aizencang, G; Astrin, KH; Atweh, GF; Desnick, RJ; Glass, IA; Kauppinen, R1
Aizencang, GI; Astrin, KH; Bishop, DF; Desnick, RJ; Solis, C1
Astrin, KH; Desnick, RJ1
Becker, DM; Kramer, S; Viljoen, JD1
Paslin, DA1
Hindmarsh, JT1
Rimington, C1

Reviews

16 review(s) available for heme and Congenital Erythropoietic Porphyria

ArticleYear
Porphyrias and photosensitivity: pathophysiology for the clinician.
    Postgraduate medicine, 2018, Volume: 130, Issue:8

    Topics: Heme; Iron; Photosensitivity Disorders; Porphyria Cutanea Tarda; Porphyria, Erythropoietic; Porphyrias; Porphyrins; Protoporphyrins; Uroporphyrins

2018
Congenital erythropoietic porphyria: Recent advances.
    Molecular genetics and metabolism, 2019, Volume: 128, Issue:3

    Topics: Animals; Biosynthetic Pathways; GATA1 Transcription Factor; Genetic Diseases, Inborn; Genetic Therapy; Heme; Humans; Mice; Mutation; Porphyria, 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
Biology of Heme in Mammalian Erythroid Cells and Related Disorders.
    BioMed research international, 2015, Volume: 2015

    Topics: Anemia, Sideroblastic; Animals; Erythroid Cells; Heme; Humans; Mice; Porphyria, Erythropoietic

2015
Advances in understanding the pathogenesis of congenital erythropoietic porphyria.
    British journal of haematology, 2016, Volume: 173, Issue:3

    Topics: GATA1 Transcription Factor; Heme; Humans; Mutation; Phenotype; Porphyria, Erythropoietic; Porphyrins; Uroporphyrinogen III Synthetase

2016
Acute hepatic and erythropoietic porphyrias: from ALA synthases 1 and 2 to new molecular bases and treatments.
    Current opinion in hematology, 2017, Volume: 24, Issue:3

    Topics: 5-Aminolevulinate Synthetase; Age Factors; Animals; Biomarkers; Chronic Pain; Enzyme Activation; Erythrocytes; Gene Expression Regulation; Genes, X-Linked; Genetic Association Studies; Genetic Predisposition to Disease; Heme; Humans; Mutation; Phenotype; Porphobilinogen Synthase; Porphyria, Erythropoietic; Porphyrias, Hepatic; RNA, Small Interfering

2017
The porphyrias: advances in diagnosis and treatment.
    Hematology. American Society of Hematology. Education Program, 2012, Volume: 2012

    Topics: 5-Aminolevulinate Synthetase; DNA; Erythrocytes; Genes, Recessive; Genetic Therapy; Hematology; Heme; Homozygote; Humans; Metabolism, Inborn Errors; Models, Biological; Mutation; Phlebotomy; Porphyria Cutanea Tarda; Porphyria, Erythropoietic; Porphyrias; Skin; Stem Cells

2012
Diagnosis and management of the erythropoietic porphyrias.
    Dermatologic therapy, 2003, Volume: 16, Issue:1

    Topics: Heme; Humans; Immunohistochemistry; Porphyria, Erythropoietic; Ultraviolet Therapy

2003
Oral aspects of porphyria.
    International dental journal, 2005, Volume: 55, Issue:2

    Topics: Algorithms; Anesthesia, Dental; Arginine; Blister; Carbohydrates; Contraindications; Heme; Humans; Mouth Diseases; Photophobia; Porphobilinogen Synthase; Porphyria, Erythropoietic; Porphyrias, Hepatic; Tooth Discoloration

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
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
Porphyria in childhood.
    Seminars in dermatology, 1995, Volume: 14, Issue:1

    Topics: Adult; Child; Heme; Humans; Infant; Porphyria Cutanea Tarda; Porphyria, Erythropoietic; Porphyria, Hepatoerythropoietic; Porphyrias

1995
Congenital erythropoietic porphyria: advances in pathogenesis and treatment.
    British journal of haematology, 2002, Volume: 117, Issue:4

    Topics: Animals; Base Sequence; Bone Marrow Transplantation; Genetic Therapy; Hematopoietic Stem Cell Transplantation; Heme; Humans; Infant, Newborn; Mice; Mice, Knockout; Molecular Sequence Data; Mutation; Porphyria, Erythropoietic; Research Design; Uroporphyrinogen III Synthetase

2002
The porphyrias.
    International journal of dermatology, 1992, Volume: 31, Issue:8

    Topics: Acute Disease; Heme; Humans; Plasmapheresis; Porphyria, Erythropoietic; Porphyrias; Porphyrias, Hepatic; Porphyrinogens; Porphyrins

1992
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

Other Studies

10 other study(ies) available for heme and Congenital Erythropoietic Porphyria

ArticleYear
Hematopoietic stem cell transplant for erythropoietic porphyrias in pediatric patients.
    Pediatric blood & cancer, 2021, Volume: 68, Issue:9

    Topics: Child; Child, Preschool; Hematopoietic Stem Cell Transplantation; Heme; Humans; Liver; Porphyria, Erythropoietic

2021
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
Congenital erythropoietic porphyria: anesthetic implications.
    Journal of anesthesia, 2009, Volume: 23, Issue:4

    Topics: Adult; Anesthesia, General; Blindness; Dermatitis, Phototoxic; Endophthalmitis; Hand Deformities, Acquired; Heme; Humans; Male; Ophthalmologic Surgical Procedures; Pain, Postoperative; Perioperative Care; Porphyria, Erythropoietic; Postoperative Complications

2009
[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
Uroporphyrinogen III synthase knock-in mice have the human congenital erythropoietic porphyria phenotype, including the characteristic light-induced cutaneous lesions.
    American journal of human genetics, 2006, Volume: 78, Issue:4

    Topics: Animals; Heme; Humans; Light; Mice; Mice, Transgenic; Microsomes, Liver; Molecular Sequence Data; Phenotype; Porphyria, Erythropoietic; Porphyrins; Skin Diseases; Uroporphyrinogen III Synthetase

2006
Phototaxis away from blue light by an Escherichia coli mutant accumulating protoporphyrin IX.
    Proceedings of the National Academy of Sciences of the United States of America, 1995, Aug-01, Volume: 92, Issue:16

    Topics: Anaerobiosis; Cell Movement; Chemotaxis; Escherichia coli; Ferrochelatase; Genes, Bacterial; Heme; Humans; Light; Mutation; Oxygen; Porphyria, Erythropoietic; Protoporphyrins

1995
Molecular basis of congenital erythropoietic porphyria: mutations in the human uroporphyrinogen III synthase gene.
    Human mutation, 1996, Volume: 7, Issue:3

    Topics: Adolescent; Adult; Alleles; Child; Child, Preschool; Cloning, Molecular; Escherichia coli; Female; Genotype; Heme; Humans; Infant; Male; Middle Aged; Mutation; Phenotype; Porphyria, Erythropoietic; Uroporphyrinogen III Synthetase

1996
Congenital erythropoietic porphyria: prolonged high-level expression and correction of the heme biosynthetic defect by retroviral-mediated gene transfer into porphyric and erythroid cells.
    Molecular genetics and metabolism, 1998, Volume: 65, Issue:1

    Topics: Base Sequence; Cell Line; DNA Primers; Gene Transfer Techniques; Genetic Therapy; Genetic Vectors; Heme; Humans; Porphyria, Erythropoietic; Retroviridae; Transduction, Genetic; Tumor Cells, Cultured; Uroporphyrinogen III Synthetase

1998
Uroporphyrinogen III synthase erythroid promoter mutations in adjacent GATA1 and CP2 elements cause congenital erythropoietic porphyria.
    The Journal of clinical investigation, 2001, Volume: 107, Issue:6

    Topics: Alleles; Base Sequence; Binding Sites; Case-Control Studies; DNA; DNA Primers; DNA-Binding Proteins; Erythrocytes; Erythroid-Specific DNA-Binding Factors; GATA1 Transcription Factor; Genes, Reporter; Haplotypes; Heme; Humans; K562 Cells; Luciferases; Molecular Sequence Data; Mutation; Porphyria, Erythropoietic; Promoter Regions, Genetic; Transcription Factors; Transfection; Uroporphyrinogen III Synthetase

2001
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