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Porphyria, Erythropoietic
Known as:
congenital porphyria
, Erythropoietic Porphyrias
, Porphyrias, Erythropoietic
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An autosomal recessive porphyria that is due to a deficiency of UROPORPHYRINOGEN III SYNTHASE in the BONE MARROW; also known as congenital…
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National Institutes of Health
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Related topics
Related topics
35 relations
Alopecia
Anemia, Hemolytic
Autosomal recessive inheritance
Bulla
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Broader (2)
Disorders of Porphyrin Metabolism
Hereditary Diseases
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
1981
1981
Transfusion therapy in a patient with erythropoietic protoporphyria.
M. Bechtel
,
S. Bertolone
,
S. J. Hodge
Archives of Dermatology
1981
Corpus ID: 41929505
An 8-year-old boy with erythropoietic protoporphyria had a marked decrease in photosensitivity symptoms after several…
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1981
1981
The diagnosis of acute intermittent porphyria. Usefulness and limitations of the erythrocyte uroporphyrinogen I synthase assay.
S. Bottomley
,
Herbert L. Bonkowsky
,
Martha Kreimer-Birnbaum
American Journal of Clinical Pathology
1981
Corpus ID: 22409695
In acute intermittent porphyria (AIP) the inherited metabolic defect residues in a partial enzyme deficiency at the…
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1978
1978
[Comparative morphological studies on porphyria cutanea tarda and erythropoietic protoporphyris].
A. Kint
,
J. de Weert
Der Hautarzt; Zeitschrift fur Dermatologie…
1978
Corpus ID: 45600178
Porphyria cutanea tarda and erythropoietic protoporphyria have common morphological features. Six patients with porphyria cutanea…
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1971
1971
Hepatic and erythropoietic protoporphyria. Delta-aminolevulinic acid synthetase, fluorescence, and microfluorospectrophotometric study.
Cripps Dj
,
MacEachern Wn
1971
Corpus ID: 88853603
1967
1967
Porphyrin patterns in different types of porphyria.
T. Chu
,
E. Chu
Clinical Chemistry
1967
Corpus ID: 7495963
Porphyrins from 38 cases of different types of porphyria were separated chromatographically and analyzed. Patients with different…
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1964
1964
ERYTHROPOIETIC PROTOPORPHYRIA PRESENTING AS HYDROA AESTIVALE.
A. Redeker
,
Ronald S. Bronow
Archives of Dermatology
1964
Corpus ID: 6027211
Three patients with erythropoietic protoporphyria, the first to be reported from this country, have been studied. In each, as in…
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1963
1963
Porphyria erythropoetica congenita Günther
L. Heilmeyer
,
R. Clotten
,
L. Kerp
,
H. Merker
,
C. A. Parra
,
H. Wetzel
1963
Corpus ID: 76794428
Porfirismo eritropoyético congénito de Günther
1962
1962
Experimental hepatic porphyria caused by feeding 3,5-diethoxycarbonyl-1,4-dihydro-2,4,6-trimethylpyridine. Comparison with sedormid porphyria.
F. de Matteis
,
BE Prior
Biochemical Journal
1962
Corpus ID: 6949624
Since Schmid & Schwartz (1952) described an experimental hepatic porphyria induced in rabbits by Sedormid (2-isopropylpent-4…
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1962
1962
Erythropoietic Protoporphyria with Eczema Solare: Report of a Case
A. Redeker
,
M. Berke
1962
Corpus ID: 72151691
An 8-year-old boy exhibits a chronic photosensitive cutaneous disorder since the age of 3 years. A marked elevation of the free…
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1951
1951
Photosensitive or congenital porphyria with hemolytic anemia. II. Isotopic studies of porphyrin and hemoglobin metabolism.
Moisés Grinstein
,
R. A. Aldrich
,
V. Hawkinson
,
P. Lowry
,
C. J. Watson
Blood
1951
Corpus ID: 7528001
1. Porphyrin and hemoglobin metabolism have been studied in a case of photosensitive or congenital porphyria with the aid of…
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