PSEUDO-DOMINANT TRANSMISSION OF FRUCTOSE INTOLERANCE IN AN ADULT AND 3 OFFSPRING - HETEROZYGOTE DETECTION BY INTESTINAL BIOPSY

被引：23

作者：

COX, TM

CAMILLERI, M

ODONNELL, MW

CHADWICK, VS

机构：

来源：

NEW ENGLAND JOURNAL OF MEDICINE | 1982年 / 307卷 / 09期

关键词：

D O I：

10.1056/NEJM198208263070906

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：537 / 540

页数：4

共 23 条

[1]

ADELMAN RC, 1972, ACTA MED SCAND S, V542, P47

[2] HEREDITARY FRUCTOSE INTOLERANCE [J].

CORNBLATH, M ;

CRANE, RK ;

WYBREGT, SH ;

REISNER, SH ;

ROSENTHAL, IM .

NEW ENGLAND JOURNAL OF MEDICINE, 1963, 269 (24) :1271-&

[3] HEREDITARY FRUCTOSE INTOLERANCE - AN INBORN DEFECT OF HEPATICFRUCTOSE-1-PHOSPHATE SPLITTING ALDOLASE [J].

FROESCH, ER ;

PRADER, A ;

BAITSCH, H ;

WOLF, HP ;

LABHART, A .

AMERICAN JOURNAL OF MEDICINE, 1963, 34 (02) :151-&

[4]

FROESCH ER, 1978, METABOLIC BASIS INHE, P126

[5] ANTIBODY ACTIVATION OF MUTANT HUMAN FRUCTOSEDIPHOSPHATE ALDOLASE B IN LIVER EXTRACTS OF PATIENTS WITH HEREDITARY FRUCTOSE INTOLERANCE [J].

GITZELMANN, R ;

STEINMANN, B ;

BALLY, C ;

LEBHERZ, HG .

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1974, 59 (04) :1270-1279

[6]

HERS H. G., 1961, ENZYMOL BIOL ET CLIN, V1, P4

[7] ON THE EVALUATION OF THE CONSTANT-VM AND CONSTANT-KM IN ENZYME REACTIONS [J].

HOFSTEE, BHJ .

SCIENCE, 1952, 116 (3013) :329-331

[8] BIOCHEMICAL BASIS OF HEREDITARY FRUCTOSE INTOLERANCE [J].

KOSTER, JF ;

SLEE, RG ;

FERNANDES, J .

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1975, 64 (01) :289-294

[9] POSSIBLE ROLE OF THIOL-GROUPS IN ABNORMAL KINETICS OF ALDOLASE IN HEREDITARY FRUCTOSE INTOLERANCE [J].

LEMONNIER, F ;

GREGORI, C ;

SCHAPIRA, F .

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1974, 61 (01) :306-312

[10] FRUCTOSAEMIA - OBSERVATIONS ON 7 CASES [J].

LEVIN, B ;

SNODGRASS, GJ ;

OBERHOLZER, VG ;

BURGESS, EA ;

DOBBS, RH .

AMERICAN JOURNAL OF MEDICINE, 1968, 45 (06) :826-+

← 1 2 3 →