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Hepatoerythropoietic porphyria: relationship with familial porphyria cutanea tarda.
Dermatology. 1996; 193(4):332-5.D

Abstract

Hepatoerythropoietic porphyria is characterized by an early beginning of severe photosensitivity, with an increase in urinary uroporphyrin excretion and other porphyrins, high isocoproporphyrin fecal levels and an accumulation of protoporphyrin in erythrocytes. It is caused by a dramatic decrease in the activity of the uroporphyrinogen decarboxylase. We report a clinical, biochemical and enzymatic study in a family, where a 2-year-old girl suffers from a hepatoerythropoietic porphyria, and the patient's maternal uncle from a porphyria cutanea tarda. We discuss the relationship between these diseases and their known mutations.

Authors+Show Affiliations

Department of Dermatology, Hospital 12 de Octubre, Madrid, Spain.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Review

Language

eng

PubMed ID

8993961

Citation

Castaño Suárez, E, et al. "Hepatoerythropoietic Porphyria: Relationship With Familial Porphyria Cutanea Tarda." Dermatology (Basel, Switzerland), vol. 193, no. 4, 1996, pp. 332-5.
Castaño Suárez E, Zamarro Sanz O, Guerra Tapia A, et al. Hepatoerythropoietic porphyria: relationship with familial porphyria cutanea tarda. Dermatology (Basel). 1996;193(4):332-5.
Castaño Suárez, E., Zamarro Sanz, O., Guerra Tapia, A., & Enríquez de Salamanca, R. (1996). Hepatoerythropoietic porphyria: relationship with familial porphyria cutanea tarda. Dermatology (Basel, Switzerland), 193(4), 332-5.
Castaño Suárez E, et al. Hepatoerythropoietic Porphyria: Relationship With Familial Porphyria Cutanea Tarda. Dermatology (Basel). 1996;193(4):332-5. PubMed PMID: 8993961.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Hepatoerythropoietic porphyria: relationship with familial porphyria cutanea tarda. AU - Castaño Suárez,E, AU - Zamarro Sanz,O, AU - Guerra Tapia,A, AU - Enríquez de Salamanca,R, PY - 1996/1/1/pubmed PY - 1996/1/1/medline PY - 1996/1/1/entrez SP - 332 EP - 5 JF - Dermatology (Basel, Switzerland) JO - Dermatology (Basel) VL - 193 IS - 4 N2 - Hepatoerythropoietic porphyria is characterized by an early beginning of severe photosensitivity, with an increase in urinary uroporphyrin excretion and other porphyrins, high isocoproporphyrin fecal levels and an accumulation of protoporphyrin in erythrocytes. It is caused by a dramatic decrease in the activity of the uroporphyrinogen decarboxylase. We report a clinical, biochemical and enzymatic study in a family, where a 2-year-old girl suffers from a hepatoerythropoietic porphyria, and the patient's maternal uncle from a porphyria cutanea tarda. We discuss the relationship between these diseases and their known mutations. SN - 1018-8665 UR - https://www.unboundmedicine.com/medline/citation/8993961/Hepatoerythropoietic_porphyria:_relationship_with_familial_porphyria_cutanea_tarda_ L2 - https://www.karger.com?DOI=10.1159/000246284 DB - PRIME DP - Unbound Medicine ER -