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Topic: Congenital erythropoietic porphyria

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	Congenital erythropoietic porphyria - Genetics Home Reference (Site not responding. Last check: 2007-11-01)
		Congenital erythropoietic porphyria is a rare type of porphyria that mainly affects the skin.
		Congenital erythropoietic porphyria causes the skin to be overly sensitive to sunlight.
		Mutations in the UROS gene cause congenital erythropoietic porphyria.
	ghr.nlm.nih.gov /condition=congenitalerythropoieticporphyria (664 words)

	Congenital erythropoietic porphyria in two siblings
		Congenital erythropoietic porphyria is a very rare autosomal recessive disease, with mutation in the gene that codifies uroporphyrinogen-III synthease, leading to porphyrin acumulation in many tissues, with marked skin photosensitivity.
		Congenital erythropoietic porphyria (CEP) is an autosomal recessive disease in which the gene that codes for the uroporphyrinogin-III synthetase (URO-III s) (found in chromosome 10) is mutated [1, 2, 3].
		Moreover, the excretion of urinary uroporphyrin III and coproporphyrin III is increased.
	dermatology.cdlib.org /113/case_reports/porphyria/cepENGLISH.html (1340 words)

	Porphyria, Congenital Erythropoietic
		Congenital Erythropoietic Porphyria (CEP) is a hereditary non-x-linked trait disorder.
		The onset of Congenital Erythropoietic Porphyria is in early infancy and is primarily a rare childhood form of porphyria.
		Erythropoietic Protoporphyria (EPP) is a hereditary type of Porphyria marked by an accumulation of protoporphyrin in the bone marrow, red blood cells and sometimes the liver.
	hw.healthdialog.com /kbase/nord/nord319.htm (1478 words)

	Disease - Porphyria - Detroit, Michigan
		Porphyrias are characterized by three major findings: photodermatitis (light sensitivity causing rashes), neuropsychiatric complaints, and visceral complaints (such as abdominal pain or cramping).
		Acute intermittent porphyria; Hereditary coproporphyria; Congenital erythropoietic porphyria; Erythropoietic protoporphyria
		The porphyrias may be inherited as either autosomal dominant (caused by inheriting one abnormal copy of the gene) or autosomal recessive (requires inheritance of two abnormal genes) traits, depending on which type of porphyria is involved.
	www.henryfordhealth.org /12232.cfm (427 words)

	Porphyria - Washington DC
		Porphyria is a group of inherited disorders involving abnormalities in the production of heme pigments (the base material responsible for hemoglobin (red blood cell pigment), myoglobin (reddish muscle cell pigment), and another group of materials called cytochromes.
		Porphyrias are characterized by 3 major findings: photodermatitis (light sensitivity causing rashes), neuropsychiatric complaints, and visceral complaints (such as abdominal pain or cramping).
		The porphyrias may be inherited as either autosomal dominant (caused by inheriting 1 abnormal copy of the gene) or autosomal recessive (requires inheritance of 2 abnormal genes) traits, depending on which type of porphyria is involved.
	www.whcenter.org /16026.cfm (428 words)

	Porphyria
		Hemochromatosis (HFE) Gene Mutations and Response to Chloroquine in Porphyria Cutanea Tarda.
		Congenital erythropoietic porphyria (CEP) is an inherited metabolic disorder resulting from the accumulation of porphyrins because of defective uroporphyrinogen III synthase (UROIIIS).
		Congenital erythropoietic porphyria (CEP) is an autosomal recessive disorder resulting from the deficient activity of the heme biosynthetic enzyme uroporphyrinogen III synthase (UROS).
	www.thedoctorsdoctor.com /diseases/porphyria.htm (4583 words)

	Porphyria, Congenital Erythropoietic - SJMMC, Ann Arbor, Michigan MI
		Congenital Erythropoietic Porphyria (CEP) is extremely rare and is inherited through an autosomal recessive trait.
		CEP is manifested by markedly increased levels of porphyrins in bone marrow, red blood cells, plasma, urine and feces.
		The porphyrias with skin manifestations are sometimes called "cutaneous porphyrias." The "acute porphyrias" are those characterized by sudden attacks of pain and other neurological manifestations.
	www.sjmercyhealth.org /15147.cfm (571 words)

	Erythropoietic Porphyria (Site not responding. Last check: 2007-11-01)
		Porphyria, Congenital Erythropoietic Congenital Erythropoietic Porphyria (CEP) is extremely rare and is inherited...
		Congenital erythropoietic porphyria in two siblings Congenital erythropoietic porphyria is a very rare autosomal recessive disease,...
		Porphyria Foundation Cardiac arrhythmias and tachycardia (fast heart rate) may develop as the autonomic nervous system is affected.
	www.porphyria-symptoms.com /erythropoietic-porphyria_15.html (803 words)

	Porphyria
		Inherited porphyrias are a group of monogenic, mostly autosomal dominant disorders characterized by the markedly increased formation and excretion of porphyrins and their precursors (delta aminolevulinic acid or ALA, and porphobilinogen or PBG).
		Each type of porphyria is the result of a dysfunctioning enzyme involved in the biosynthesis of heme.
		Disorders are classified as hepatic or erythropoietic, according to the location of predominant expression of the metabolic defect.
	www.orpha.net /static/GB/porphyria.html (100 words)

	Porphyria
		Porphyria is a name given to a group of metabolic disorders.
		There are several types of porphyria that have been given an official "medical term." There are also mutations of this disorder that have yet to be given a name.
		It is my belief that many individuals are not being properly diagnosed with porphyria due to the lack of knowledge and because it's symptoms are similar to other, more common diseases.
	www.geocities.com /Heartland/Valley/7299/Porphyria.html (556 words)

	THE MERCK MANUAL, Sec. 2, Ch. 14, The Porphyrias
		The diagnosis of CEP is suggested by the presence of pink to dark brown urine and/or the onset of severe photosensitivity in infancy (or, rarely, in adults).
		Although HEP is clinically very similar to congenital erythropoietic porphyria, these conditions differ in their patterns of porphyrin accumulation.
		Variegate porphyria (VP) is prevalent in South Africa, where most cases have been traced to a couple who immigrated from Holland in the late 1600s, one of whom carried the trait.
	www.merck.com /mrkshared/mmanual/section2/chapter14/14c.jsp (1848 words)

	NicholasAshby.com/WhatIsCEP.html
		Congenital erythropoietic porphyria is a subtype of which condition?
		This disorder is caused by mutations in the UROS gene.
		Congenital erythropoietic porphyria is inherited in an autosomal recessive pattern, which means two copies of the gene must be altered for a person to be affected by the disorder.
	www.nicholasashby.com /WhatIsCEP.html (406 words)

	Vol2.
		CEP porphyria occurs rarely in animals and that is mostly in cattle.
		The pathogenesis of CEP lies with the uroporphyringen III cosynthase gene.
		The diagnosis of CEP is suggested by the presence of pink to dark brown
	members.tripod.com /~PorphBook/vol2_18.html (384 words)

	Congenital Erythropoietic Porphyria Successfully Treated by Allogeneic Bone Marrow Transplantation -- Tezcan et al. 92 ...
		Warner CA, Yoo H-W, Tsai S-F, Roberts AG, Desnick RJ: Congenital erythropoietic porphyria: Characterization of the genomic structure and identification of mutations in the uroporphyrinogen III synthase gene.
		Xu W, Warner CA, Desnick RJ: Congenital erythropoietic porphyria: Identification and expression of 10 mutations in the uroporphyrinogen III synthase gene.
		Enzymatic diagnosis of heterozygotes and homozygotes with congenital erythropoietic porphyria.
	www.bloodjournal.org /cgi/content/full/92/11/4053 (3342 words)

	Porphyria
		Acute Intermittent Porphyria With Seizure and Paralysis in the Puerperium
		Porphyria cutanea tarda associated with an acute gastrointestinal bleed: the roles of supplemental iron and blood transfusion
		Porphyria cutanea tarda precipitated by intravenous iron in a haemodialysis patient
	www.bdid.com /porphyria.htm (584 words)

	Congenital erythropoietic porphyria - References - Genetics Home Reference
		These sources were used to develop the Genetics Home Reference condition summary on congenital erythropoietic porphyria.
		Congenital erythropoietic porphyria: advances in pathogenesis and treatment.
		Congenital erythropoietic porphyria associated with myelodysplasia presenting in a 72-year-old man: report of a case and review of the literature.
	ghr.nlm.nih.gov /condition=congenitalerythropoieticporphyria/show/References (136 words)

	Congenital Erythropoietic Porphyria - Canadian Porphyria Foundation
		Congenital Erythropoietic Porphyria is a very rare form of porphyria inherited as an autosomal recessive trait associated with a deficiency in the enzyme activity of uroporphyrinogen cosynthetase.
		The urinary porphyrins are markedly increased and often stain the diapers red.
		This is the only type of porphyria that can be diagnosed prenatally, and is characterized by the finding of elevated uroporphyrin concentrations in the amniotic fluid.
	www.cpf-inc.ca /CEP.htm (106 words)

	eMedicine - Erythropoietic Porphyria : Article by Jeanette L Hebel, MD (Site not responding. Last check: 2007-11-01)
		Background: Erythropoietic porphyria (EP) is a rare inborn error of porphyrin-heme synthesis inherited that is as an autosomal recessive trait.
		The inheritance of 2 mutant alleles for the gene encoding the enzyme uroporphyrinogen III synthase leads to accumulation of porphyrins of the isomer I type that are biologically useless but cause cutaneous photosensitivity characterized by blisters, erosions, and scarring of light-exposed skin.
		Mascaro JM: The porphyrias: a brief overview based on 25 years of experience (1969-1994) by the Department of Dermatology of the Hospital Clinic and Faculty of Medicine of Barcelona, Spain.
	www.emedicine.com /DERM/topic145.htm (2040 words)

	About Porphyria: Congenital Erythropoietic Porphyria (CEP)
		As is characteristic of the erythropoietic porphyrias, symptoms begin during infancy.
		Sometimes CEP is recognized as a cause of anemia in a fetus before birth.
		Join the APF—Your donations help support patient and physician education as well as porphyria research.
	www.porphyriafoundation.com /about_por/types/types02.html (211 words)

	GENETIC DISORDERS - Congenital Erythropoietic Porphyria
		The disorder results from low levels of the enzyme responsible for the fourth step in haeme production.
		It is a component of haemoglobin, the molecule that carries oxygen in the blood.
		If gene mutations prevent sufficient activity of this enzyme, haeme is not produced normally.
	www.medic8.com /genetics/congenital-erythropoietic-porphyria.htm (444 words)

	Congenital Erythropoietic Porphyria - Karger Publishers
		Congenital erythropoietic porphyria (CEP) is one of the rarest autosomal-recessive disorders of the porphyrin metabolism caused by the homozygous defect of uroporphyrinogen III cosynthase.
		High amounts of uroporphyrin I accumulate in all cells and tissues, reflected by an increased erythrocyte porphyrin concentration and excretion of high porphyrin amounts in urine and feces.
		Up to date 130 cases of CEP have been published.
	content.karger.com /ProdukteDB/produkte.asp?Aktion=ShowFulltext&ProduktNr=224194&Ausgabe=226588&ArtikelNr=29857 (185 words)

	Medical Dictionary: Porphyria, congenital erythropoietic - WrongDiagnosis.com
		Porphyria, congenital erythropoietic is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH).
		This means that Porphyria, congenital erythropoietic, or a subtype of Porphyria, congenital erythropoietic, affects less than 200,000 people in the US population.
		Terms that may be interchangeable with Porphyria, congenital erythropoietic:
	www.wrongdiagnosis.com /medical/porphyria_congenital_erythropoietic.htm (187 words)

	Porphyria, Congenital Erythropoietic - Quest Diagnostics Patient Health Library (Site not responding. Last check: 2007-11-01)
		Porphyria, Congenital Erythropoietic - Quest Diagnostics Patient Health Library
		Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
		Porphyrias can also be classified into two groups: the "hepatic" and "erythropoietic" types.
	www.questdiagnostics.com /kbase/nord/nord319.htm (544 words)

	Medical Dictionary: Congenital erythropoietic porphyria - WrongDiagnosis.com
		Congenital erythropoietic porphyria : autosomal recessive porphyria characterized by splenomegaly, photosensitivity, hemolytic anemia, and the appearance of red urine in early infancy; results from increased synthesis of uroporphyrinogen I relative to uroporphyrinogen III in bone marrow normoblasts.
		The term Congenital erythropoietic porphyria can be used for:
		Other terms that may be related to Congenital erythropoietic porphyria:
	www.wrongdiagnosis.com /medical/congenital_erythropoietic_porphyria.htm (189 words)

	Porphyria, congenital erythropoietic
		Need for measurement of porphyrins in teardrops in patients with congenital erythropoietic porphyria
		Ocular involvement caused by the accumulation of porphyrins in a patient with congenital erythropoietic porphyria
		Ocular involvement in congenital erythropoietic porphyria (Gunther's disease): cytopathological evaluation of conjunctival and corneal changes
	www.gfmer.ch /genetic_diseases_v2/gendis_detail_list.php?cat3=1118 (77 words)

	CONGENITAL ERYTHROPOIETIC PORPHYRIA (Site not responding. Last check: 2007-11-01)
		A group of metabolic disorders that result from a disturbance in porphyrin metabolism, causing increased formation and excretion of porphyrin or its precursors.
		Acute intermittent porphyria is a rare inherited (autosomal dominant) form that can result in abdominal pain, photosensitivity, and neurological disturbances.
		The various forms can be differentiated measuring various blood porphyrins.
	www.medhelp.org /glossary2/new/GLS_1352.HTM (87 words)

	NEJM -- Hydroxyurea in Congenital Erythropoietic Porphyria
		Since this article has no abstract, we have provided an extract of the first 100 words of the full text and any section headings.
		Berry, A. A., Desnick, R. J., Astrin, K. H., Shabbeer, J., Lucky, A. W., Lim, H. Two Brothers With Mild Congenital Erythropoietic Porphyria Due to a Novel Genotype.
		Tezcan, I., Xu, W., Gurgey, A., Tuncer, M., Cetin, M., Öner, C., Yetgin, S., Ersoy, F., Aizencang, G., Astrin, K.H., Desnick, R.J. Congenital Erythropoietic Porphyria Successfully Treated by Allogeneic Bone Marrow Transplantation.
	content.nejm.org /cgi/content/short/330/15/1091 (166 words)

	Congenital Erythropoietic Porphyria Successfully Treated by Allogeneic Bone Marrow Transplantation -- Tezcan et al. 92 ...
		Congenital Erythropoietic Porphyria Successfully Treated by Allogeneic Bone Marrow Transplantation -- Tezcan et al.
		Because the clinical severity of CEP is highly variable, ranging
		Acute Intermittent Porphyria: Studies of the Severe Homozygous Dominant Disease Provides Insights Into the Neurologic Attacks in Acute Porphyrias
	www.bloodjournal.org /cgi/content/abstract/92/11/4053 (312 words)

	MedlinePlus: Porphyria
		Porphyria (National Institute of Diabetes and Digestive and Kidney Diseases)
		Genetics Home Reference: Congenital erythropoietic porphyria (National Library of Medicine)
		The primary NIH organization for research on Porphyria is the National Institute of Diabetes and Digestive and Kidney Diseases
	www.nlm.nih.gov /medlineplus/porphyria.html (174 words)

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