COEXISTENT HEREDITARY COPROPORPHYRIA AND CONGENITAL ERYTHROPOIETIC PORPHYRIA (GUNTHER DISEASE)

被引:18
作者
NORDMANN, Y [1 ]
AMRAM, D [1 ]
DEYBACH, JC [1 ]
PHUNG, LN [1 ]
LESBROS, D [1 ]
机构
[1] HOSP CAREMEAU,DEPT PAEDIAT,F-30006 NIMES,FRANCE
关键词
D O I
10.1007/BF01799568
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
We present data on one patient with an inheritance pattern for two porphyrias. From her mother she inherited the trait of hereditary coproporphyria; from both parents she inherited the trait of congenital erythropoietic porphyria (Günther disease). Enzyme studies confirmed this new type of dual porphyria. © 1990 SSIEM and Kluwer Academic Publishers.
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页码:687 / 691
页数:5
相关论文
共 13 条
[11]   HARDEROPORPHYRIA - A VARIANT HEREDITARY COPROPORPHYRIA [J].
NORDMANN, Y ;
GRANDCHAMP, B ;
DEVERNEUIL, H ;
PHUNG, L ;
CARTIGNY, B ;
FONTAINE, G .
JOURNAL OF CLINICAL INVESTIGATION, 1983, 72 (03) :1139-1149
[12]  
SCHWARTZ SAMUEL, 1960, METHODS BIOCHEM ANAL, V8, P221
[13]   PORPHYRIA VARIEGATA AND PORPHYRIA CUTANEA-TARDA IN SIBLINGS - CHEMICAL AND GENETIC ASPECTS [J].
WATSON, CJ ;
CARDINAL, RA ;
BOSSENMAIER, I ;
PETRYKA, ZJ .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1975, 72 (12) :5126-5129