SCREENING FOR LATENT ACUTE INTERMITTENT PORPHYRIA - THE VALUE OF MEASURING BOTH LEUKOCYTE DELTA-AMINOLEVULINIC-ACID SYNTHASE AND ERYTHROCYTE UROPORPHYRINOGEN-1-SYNTHASE ACTIVITIES

被引:58
作者
MCCOLL, KEL
MOORE, MR
THOMPSON, GG
GOLDBERG, A
机构
关键词
D O I
10.1136/jmg.19.4.271
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
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页码:271 / 276
页数:6
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共 21 条
[1]   FAMILY STUDIES ON ACTIVITY OF UROPORPHYRINOGENI SYNTHASE IN DIAGNOSIS OF ACUTE INTERMITTENT PORPHYRIA [J].
ASTRUP, EG .
CLINICAL SCIENCE AND MOLECULAR MEDICINE, 1978, 54 (03) :251-256
[2]   STUDIES IN PORPHYRIA .2. EVIDENCE FOR A DEFICIENCY OF STEROID DELTA-4-5-ALPHA-REDUCTASE ACTIVITY IN ACUTE INTERMITTENT PORPHYRIA [J].
BRADLOW, HL ;
GILLETTE, PN ;
GALLAGHER, TF ;
KAPPAS, A .
JOURNAL OF EXPERIMENTAL MEDICINE, 1973, 138 (04) :754-763
[3]  
BRODIE MJ, 1977, LANCET, V2, P690
[4]   ALTERATIONS IN ACTIVITY OF ENZYMES OF HEME BIOSYNTHESIS IN LEAD-POISONING AND ACUTE HEPATIC PORPHYRIA [J].
CAMPBELL, BC ;
BRODIE, MJ ;
THOMPSON, GG ;
MEREDITH, PA ;
MOORE, MR ;
GOLDBERG, A .
CLINICAL SCIENCE AND MOLECULAR MEDICINE, 1977, 53 (04) :335-340
[5]  
DOSS M, 1978, J CLIN CHEM CLIN BIO, V16, P111
[6]   STUDIES ON PORPHOBILINOGEN DEAMINASE AND UROPORPHYRINOGEN III COSYNTHASE FROM HUMAN ERYTHROCYTES [J].
FRYDMAN, RB ;
FEINSTEIN, G .
BIOCHIMICA ET BIOPHYSICA ACTA, 1974, 350 (02) :358-373
[7]  
GOLDBERG A, 1978, MEDICINE, V11, P551
[8]  
GRELIER M, 1977, NOUV PRESSE MED, V6, P1045
[9]   EXPERIENCE WITH THE RED-CELL UROPORPHYRINOGEN SYNTHASE (URO-S) ASSAY IN KINDREDS WITH ACUTE INTERMITTENT PORPHYRIA (AIP) [J].
KREIMERBIRNBAUM, M ;
BONKOWSKY, HL ;
BOTTOMLEY, SS .
INTERNATIONAL JOURNAL OF BIOCHEMISTRY, 1980, 12 (5-6) :807-810
[10]   FAMILY EVALUATIONS IN ACUTE INTERMITTENT PORPHYRIA USING RED-CELL UROPORPHYRINOGEN-I SYNTHETASE [J].
LAMON, JM ;
FRYKHOLM, BC ;
TSCHUDY, DP .
JOURNAL OF MEDICAL GENETICS, 1979, 16 (02) :134-139