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what is 'congenital erythropoietic protoporphyria - disorders of heme synthesis causing liver and skin problems '?
Definition for congenital erythropoietic protoporphyria
http://www.emedicine.com/DERM/topic473.htm
do i have 'congenital erythropoietic protoporphyria'?
In addition the following diagnostic tests might be need to help verify the diagnosis:
diagnostic test search results for 'congenital erythropoietic protoporphyria'
1 - 5 of
15
diagnostic tests
Erythrocyte protoporphyrin
congenital erythropoietic protoporphyria and Erythrocyte protoporphyrin
Fecal protoporphyrin
congenital erythropoietic protoporphyria and Fecal protoporphyrin
plasma protoporphyrin
congenital erythropoietic protoporphyria and plasma protoporphyrin
Abdominal CAT Scan
congenital erythropoietic protoporphyria and Abdominal CAT Scan
Complete Blood Count
congenital erythropoietic protoporphyria and Complete Blood Count
Hepatic ultrasonography
congenital erythropoietic protoporphyria and Hepatic ultrasonography
Liver Function Tests
elevated liver enzymes
congenital erythropoietic protoporphyria and Liver Function Tests
Molecular Genetic Studies
congenital erythropoietic protoporphyria and Molecular Genetic Studies
Abdominal MRI
MRI of abdominal contents
congenital erythropoietic protoporphyria and Abdominal MRI
Biopsy liver
congenital erythropoietic protoporphyria and Biopsy liver
24-hour urinary porphyrin
congenital erythropoietic protoporphyria and 24-hour urinary porphyrin
Erythrocyte porphyrin
congenital erythropoietic protoporphyria and Erythrocyte porphyrin
Plasma porphyrin
congenital erythropoietic protoporphyria and Plasma porphyrin
Ultrasound gallbladder and bile ducts
congenital erythropoietic protoporphyria and Ultrasound gallbladder and bile ducts
Urine coproporphyrins
congenital erythropoietic protoporphyria and Urine coproporphyrins
for more please login, login is free (click to login)
therapeutic procedures for 'congenital erythropoietic protoporphyria'?
Managing or treating a diseases should always be determined by a patients health care provider. Below is a list of associated therapeutic procedures or medications for congenital erythropoietic protoporphyria:
therapeutic procedure search results for 'congenital erythropoietic protoporphyria'
1 - 5 of
5
therapeutic procedures
rankings are computer generated. please consult your health care provider.
Liver Transplant
Replacing diseased liver by healthy one
congenital erythropoietic protoporphyria and Liver Transplant
Sun protection
congenital erythropoietic protoporphyria and Sun protection
exchange transfusion
congenital erythropoietic protoporphyria and exchange transfusion
Plasmapheresis
Hemapheresis
congenital erythropoietic protoporphyria and Plasmapheresis
Hypertransfusion
congenital erythropoietic protoporphyria and Hypertransfusion
medications search results for 'congenital erythropoietic protoporphyria'
1 - 5 of
8
medications
rankings are computer generated. please consult your health care provider.
beta-carotene
congenital erythropoietic protoporphyria and beta-carotene
Heme arginate
congenital erythropoietic protoporphyria and Heme arginate
Hemin
congenital erythropoietic protoporphyria and Hemin
cholestyramine
congenital erythropoietic protoporphyria and cholestyramine
activated charcoal
congenital erythropoietic protoporphyria and activated charcoal
Cimetidine
congenital erythropoietic protoporphyria and Cimetidine
Fexofenadine
congenital erythropoietic protoporphyria and Fexofenadine
Ursodiol
congenital erythropoietic protoporphyria and Ursodiol
for more please login, login is free (click to login)
web search results for 'congenital erythropoietic protoporphyria'?
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1 - 50
- congenital erythropoietic protoporphyria
Erythropoietic protoporphyria - Wikipedia, the free encyclopedia
Erythropoietic protoporphyria (EPP) is a relatively mild form of porphyria, ... Gunther disease/congenital erythropoietic porphyria · Porphyria cutanea ...
http://en.wikipedia.org/wiki/Erythropoietic_protoporphyria
en.wikipedia.org
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summary
Porphyria
Porphyrias are a rare group of disorders passed down through families in which ... Congenital erythropoietic porphyria; Erythropoietic protoporphyria ...
http://adam.about.com/encyclopedia/infectiousdiseases/Porphyria_1.htm
adam.about.com
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summary
Porphyria - Genetics Home Reference
... congenital erythropoietic porphyria, erythropoietic protoporphyria, ... congenital erythropoietic porphyria, and rare cases of erythropoietic protoporphyria. ...
http://ghr.nlm.nih.gov/condition=erythropoieticprotoporphyria
ghr.nlm.nih.gov
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summary
Introduction: Porphyrias: Merck Manual Home Edition
erythropoietic protoporphyria. hemoglobin. neurologic. porphyria ... hepatoerythropoietic porphyria and congenital erythropoietic porphyria. ...
http://www.merck.com/mmhe/sec12/ch160/ch160a.html
www.merck.com
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summary
MedlinePlus Medical Encyclopedia: Porphyria
... Congenital erythropoietic porphyria; Erythropoietic protoporphyria ... Porphyrias are a rare group of disorders passed down through families in which ...
http://www.nlm.nih.gov/medlineplus/ency/article/001208.htm
www.nlm.nih.gov
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Health Library - Avera Health
Porphyrias are a rare group of disorders passed down through families in which ... Congenital erythropoietic porphyria; Erythropoietic protoporphyria ...
http://averaorg.adam.com/content.aspx?productId=101&pid=1&gid=001208
averaorg.adam.com
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Health Information - MMCI
MMCI - Methodist Medical Center, methodist hospital, Illinois hospital, peoria hospital ... Congenital erythropoietic porphyria; Erythropoietic protoporphyria ...
http://mmci2.adam.com/content.aspx?productId=101&pid=1&gid=001208
mmci2.adam.com
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Porphyria - Related Gene(s) - Genetics Home Reference
FECH: ferrochelatase (protoporphyria) HFE: hemochromatosis. HMBS: ... UROS: uroporphyrinogen III synthase (congenital erythropoietic porphyria) ...
http://www.ghr.nlm.nih.gov/condition=porphyria/show/Related+Gene(s)
www.ghr.nlm.nih.gov
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summary
Candidate gene mutation analysis in idiopathic acquired sideroblastic ...
... of previously undiagnosed patients with biochemical evidence for erythropoietic ... PUS1, genes implicated in congenital sideroblastic anemia syndromes, but again ...
http://www.ncbi.nlm.nih.gov/pubmed/16870250
www.ncbi.nlm.nih.gov
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summary
Porphyria
Important It is possible that the main title of the report ... Protoporphyria. Porphyria Cutanea Tarda. Congenital Erythropoietic Porphyria. ALA-D Porphyria ...
http://www.webmd.com/a-to-z-guides/porphyria-10646
www.webmd.com
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summary
Erythropoietic porphyria - Wikipedia, the free encyclopedia
erythropoietic protoporphyria (EPP) 177000. ferrochelatase. congenital erythropoietic porphyria or "Gunther's" ... "OMIM - PORPHYRIA, CONGENITAL ERYTHROPOIETIC" ...
http://en.wikipedia.org/wiki/Erythropoietic_porphyria
en.wikipedia.org
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Porphyria - OMIM - Genetic disorder catalog - Genetics Home Reference
OMIM: Congenital Erythropoietic Porphyria. OMIM: Erythropoietic Protoporphyria ... OMIM: X-linked dominant erythropoietic protoporphyria. Reviewed: November 2006 ...
http://ghr.nlm.nih.gov/condition=porphyria/show/OMIM
ghr.nlm.nih.gov
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Cutaneous Porphyrias: Porphyrias: Merck Manual Professional
Congenital erythropoietic porphyria (Günther disease) ... disease similar to that of congenital erythropoietic porphyria ... Erythropoietic Protoporphyria ...
http://www.merck.com/mmpe/print/sec12/ch155/ch155c.html
www.merck.com
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Table of Contents: Dermatology
Erythropoietic Porphyria. Erythropoietic Protoporphyria. Hemochromatosis. Lipoid Proteinosis ... Hyperkeratosis (Bullous Congenital Ichthyosiform Erythroderma) ...
http://author.emedicine.com/derm/contents.htm
author.emedicine.com
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summary
Encyclopedia E-Ez on Yahoo! Health
Emphysema, Congenital Lobar. Employment / Retirement. Empty Sella Syndrome. Encephalitis ... Erythropoietic Protoporphyria. Erythropoietin stimulators ...
http://health.yahoo.com/ency/e/
health.yahoo.com
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summary
Porphyrins - blood
congenital erythropoietic porphyria. sideroblastic anemia ... congenital erythropoietic porphyria. erythropoietic protoporphyria. Blood test. Related Articles ...
http://adam.about.com/encyclopedia/003372res.htm
adam.about.com
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summary
MedlinePlus Medical Encyclopedia: Porphyrins - blood
Congenital erythropoietic porphyria. Sideroblastic anemia ... Congenital erythropoietic porphyria. Erythropoietic protoporphyria. Risks Return to top ...
http://www.nlm.nih.gov/medlineplus/ency/article/003372.htm
www.nlm.nih.gov
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Porphyrins - blood
Erythropoietic protoporphyria. Increased erythropoiesis. Infection. Iron ... Congenital erythropoietic porphyria. Erythropoietic protoporphyria. Risks ...
http://adam.about.com/encyclopedia/Porphyrins-blood.htm
adam.about.com
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summary
Hepatoerythropoietic porphyria - Wikipedia, the free encyclopedia
... Gunther disease/congenital erythropoietic porphyria · Porphyria cutanea ... Hereditary coproporphyria · Variegate porphyria · Erythropoietic protoporphyria ...
http://en.wikipedia.org/wiki/Hepatoerythropoietic_porphyria
en.wikipedia.org
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Introduction: Porphyrias: Merck Manual Home Edition
Others include erythropoietic protoporphyria, and the extremely rare hepatoerythropoietic porphyria and congenital erythropoietic porphyria. ...
http://www.merck.com/mmhe/print/sec12/ch160/ch160a.html
www.merck.com
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summary
OMIM Update List for January, 2001
Clinical Synopsis for 177000 PROTOPORPHYRIA, ERYTHROPOIETIC ... Clinical Synopsis for 263700 PORPHYRIA, CONGENITAL ERYTHROPOIETIC ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?1.2001
www.ncbi.nlm.nih.gov
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Genomics|HuGENet|Literature|2006 Jan 5
... polymorphism to the genetic predisposition for erythropoietic protoporphyria. Gouya L, et al. ... Mutations in Primary Congenital Glaucoma Are Strongly ...
http://www.cdc.gov/genomics/hugenet/literature/2006/Hjan05.htm
www.cdc.gov
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FECH - NextBio
... are associated with protoporphyria. Two transcript... study OMIM - Congenital disorder. homo sapiens. Mouse Phenotypes - Erythropoietic porphyria ...
http://www.nextbio.com/b/home/home.nb?q=FECH
www.nextbio.com
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New Descriptors by Tree Subcategory - 2005
C16 (Congenital, Hereditary, and Neonatal Diseases and Abnormalities) CADASIL ... Protoporphyria, Erythropoietic. Tay-Sachs Disease, AB Variant ...
http://www.nlm.nih.gov/mesh/newbysub2005.html
www.nlm.nih.gov
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OMIM Update List for March, 2004
... MUSCULAR ATROPHY, CONGENITAL NONPROGRESSIVE, OF ... 108650 ATAXIA, SPASTIC, WITH CONGENITAL MIOSIS ... 115660 CATARACT, CONGENITAL, CERULEAN TYPE, 1; CCA1 ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?3.2004
www.ncbi.nlm.nih.gov
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Index: BL: Merck Manual Professional
congenital anomalies of. Bladder Anomalies. cystocele of. Cystoceles, ... in erythropoietic protoporphyria. Cutaneous Porphyrias: Treatment. febrile reaction to ...
http://www.merck.com/mmpe/index/ind_bl.html
www.merck.com
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summary
OMIM Update List for June, 2007
601462 MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL; SCCMS ... 177000 PROTOPORPHYRIA, ERYTHROPOIETIC. 177900 PSORIASIS SUSCEPTIBILITY 1; PSORS1 ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?6.2007
www.ncbi.nlm.nih.gov
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2008 MeSH Tree Structures. C17 - Skin and Connective Tissue Diseases
... Erythroderma, Congenital [C17.800. ... Protoporphyria, Erythropoietic [C17.800.827.742.812] Pseudoxanthoma ... Protoporphyria, Erythropoietic [C17. ...
http://www.nlm.nih.gov/mesh/trees2008/C17.html
www.nlm.nih.gov
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Index: FE: Merck Manual Professional
Cutaneous Porphyrias: Erythropoietic Protoporphyria. Ferroportin disease ... Congenital Goiter: Transplacental passage of goitrogens. Mental Retardation (MR) ...
http://www.merck.com/mmpe/index/ind_fe.html
www.merck.com
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OMIM Update List for July, 1998
263700 PORPHYRIA, CONGENITAL ERYTHROPOIETIC; CEP. 263800 POTASSIUM AND MAGNESIUM DEPLETION ... 177000 PROTOPORPHYRIA, ERYTHROPOIETIC. 182265 SMALL PROLINE-RICH ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?7.1998
www.ncbi.nlm.nih.gov
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Biosynthetic process - Gene Category - Genetics Home Reference
FECH: ferrochelatase (protoporphyria) FLNA: filamin A, alpha (actin binding protein 280) ... UROS: uroporphyrinogen III synthase (congenital erythropoietic porphyria) ...
http://ghr.nlm.nih.gov/ghr/genesByCategory/show/GO_0008150,GO_0008152,GO_0009058
ghr.nlm.nih.gov
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summary
Multimedia: Photographs: Merck Manual Professional
Congenital Cytomegalovirus Infection. Congenital Toxoplasmosis ... Erythropoietic Protoporphyria. Esophageal Diverticula. Esophageal Ring. Esophageal Stricture ...
http://www.merck.com/mmpe/resources/multimedia/name/photo.html
www.merck.com
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summary
2008 MeSH Tree Structures. C16 - Congenital, Hereditary, and Neonatal ...
Congenital, Hereditary, and Neonatal Diseases and ... Protoporphyria, Erythropoietic [C16.320.850.742.812] Pseudoxanthoma Elasticum [C16.320.850.750] ...
http://www.nlm.nih.gov/mesh/trees2008/C16.html
www.nlm.nih.gov
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Cellular metabolic process - Gene Category - Genetics Home Reference
ABCA1: ATP-binding cassette, sub-family ... FECH: ferrochelatase (protoporphyria) ... UROS: uroporphyrinogen III synthase (congenital erythropoietic porphyria) ...
http://ghr.nlm.nih.gov/ghr/genesByCategory/show/GO_0008150,GO_0009987,GO_0044237
ghr.nlm.nih.gov
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OMIM Update List for October, 2003
177000 PROTOPORPHYRIA, ERYTHROPOIETIC. 177400 BUTYRYLCHOLINESTERASE; BCHE ... 604168 CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?10.2003
www.ncbi.nlm.nih.gov
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Latest Updates: Merck Manual Home Edition
DiGeorge syndrome is a congenital immunodeficiency disorder in which the thymus ... Erythropoietic protoporphyria is a condition characterized by photosensitivity. ...
http://www.merck.com/mmhe/latest-updates.html
www.merck.com
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OMIM Update List for December, 2008
... MYOPATHY, CONGENITAL NONPROGRESSIVE, ... 300752 PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED DOMINANT; XLDPT ... 607765 BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1 ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?12.2008
www.ncbi.nlm.nih.gov
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OMIM Update List for February, 1996
300030 DEAFNESS, CONGENITAL SENSORINEURAL, X-LINKED TYPE 2 ... 177000 PROTOPORPHYRIA, ERYTHROPOIETIC. 179010 PYLORIC STENOSIS, INFANTILE ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?2.1996
www.ncbi.nlm.nih.gov
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2008 MeSH Tree Structures. C18 - Nutritional and Metabolic Diseases
Lipodystrophy, Congenital Generalized [C18.452.584.625.550] ... Protoporphyria, Erythropoietic [C18.452.811.400.812] Skin Diseases, Metabolic [C18.452.880] ...
http://www.nlm.nih.gov/mesh/trees2008/C18.html
www.nlm.nih.gov
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OMIM Update List for September, 1998
177000 PROTOPORPHYRIA, ERYTHROPOIETIC. 181030 SALIVARY GLAND ADENOMA, PLEOMORPHIC ... 261000 PERNICIOUS ANEMIA, CONGENITAL, DUE TO DEFECT OF INTRINSIC FACTOR ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?9.1998
www.ncbi.nlm.nih.gov
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Multimedia: Photographs: Merck Manual Professional
Erythropoietic Protoporphyria. Infiltrative Ophthalmopathy. Myxedema in Hypothyroidism ... Congenital Cytomegalovirus Infection. Congenital Toxoplasmosis ...
http://www.merck.com/mmpe/resources/multimedia/section/photo.html
www.merck.com
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Porphyria - Yahoo! Health
Important It is possible that the main title of the report ... Protoporphyria. Porphyria Cutanea Tarda. Congenital Erythropoietic Porphyria. ALA-D Porphyria ...
http://health.yahoo.com/children-resources/porphyria/healthwise--nord675.html
health.yahoo.com
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summary
OMIM Update List for March, 2005
Clinical Synopsis for 263700 PORPHYRIA, CONGENITAL ERYTHROPOIETIC ... Clinical Synopsis for 177000 PROTOPORPHYRIA, ERYTHROPOIETIC ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?3.2005
www.ncbi.nlm.nih.gov
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List of genetic disorders - Wikipedia, the free encyclopedia
see erythropoietic protoporphyria. Erythroblastic anemia ... Erythropoietic porphyria. see congenital erythropoietic porphyria. erythropoietic protoporphyria ...
http://en.wikipedia.org/wiki/List_of_genetic_disorders
en.wikipedia.org
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Norton - ADAM
Search engine description ... Porphyrias are a rare group of disorders passed down ... Congenital erythropoietic porphyria; Erythropoietic protoporphyria ...
http://nortonhealthcare.adam.com/content.aspx?productId=101&pid=1&gid=001208
nortonhealthcare.adam.com
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Health Information
A member of SSM Health Care. Body, Mind, Spirit... We care for ... Congenital erythropoietic porphyria. Erythropoietic protoporphyria. Review Date: 8/18/2008 ...
http://ssmhealth.adam.com/content.aspx?pid=1&gid=003372
ssmhealth.adam.com
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Adam
Erythropoietic protoporphyria. Increased erythropoiesis. Infection. Iron ... Congenital erythropoietic porphyria. Erythropoietic protoporphyria. Risks ...
http://stvhs.adam.com/content.aspx?productId=101&pid=1&gid=003372
stvhs.adam.com
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summary
Porphyria
Injury Disease Nutrition Poison Symptoms Surgery Test Special Topic ... Congenital erythropoietic porphyria; Erythropoietic protoporphyria ...
http://adam.about.com/encyclopedia/001208prv.htm
adam.about.com
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Porphyria - Wikipedia, the free encyclopedia
Unrelated HSCT in an adolescent affected by congenital erythropoietic porphyria" ... Hereditary coproporphyria · Variegate porphyria · Erythropoietic protoporphyria ...
http://en.wikipedia.org/wiki/Porphyria
en.wikipedia.org
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Porphyria - Gene Tests - DNA tests ordered by healthcare professionals ...
DNA Test: Congenital Erythropoietic Porphyria. DNA Test: Erythropoietic Protoporphyria ... DNA Test: Porphyria Cutanea Tarda and Hepatoerythropoietic Porphyria ...
http://ghr.nlm.nih.gov/condition=porphyria/show/Gene+Tests
ghr.nlm.nih.gov
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quick facts
category
dermatology
genetic or congenital
liver gallbladder and bile ducts
frequency
rare (U.S.)
More common in those 30 years or older, but can occur in all age groups.
likelihood by age
likelyhood by duration of symptoms
some common symptoms
blister(s) or bump(s) on skin
increased skin sensitivity to sun
scarred skin
wrinkled skin
some related diagnoses
porphyria cutanea tarda
variegate porphyria
photodermatitis
drugs and toxins
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