PARTIAL PYRUVATE DECARBOXYLASE DEFICIENCY WITH PROFOUND LACTIC-ACIDOSIS AND HYPERAMMONEMIA - RESPONSES TO DICHLOROACETATE AND BENZOATE

被引：26

作者：

MCCORMICK, K

VISCARDI, RM

ROBINSON, B

HEININGER, J

机构：

[1] UNIV ROCHESTER,SCH MED & DENT,DEPT PEDIAT,ROCHESTER,NY 14642

[2] HOSP SICK CHILDREN,TORONTO M5G 1X8,ONTARIO,CANADA

[3] NEW YORK STATE INST BASIC RES DEV DISABIL,STATEN ISL,NY 10314

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1985年 / 22卷 / 02期

关键词：

D O I：

10.1002/ajmg.1320220211

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：291 / 299

页数：9

共 18 条

[1] TREATMENT OF HYPERAMMONEMIC COMA CAUSED BY INBORN-ERRORS OF UREA SYNTHESIS [J].

BATSHAW, ML ;

BRUSILOW, SW .

JOURNAL OF PEDIATRICS, 1980, 97 (06) :893-900

[2]

BLASS JP, 1970, J CLIN INVEST, V49, P433

[3]

Brusilow S W, 1982, Adv Pediatr, V29, P69

[4] NEW PATHWAYS OF NITROGEN-EXCRETION IN INBORN-ERRORS OF UREA SYNTHESIS [J].

BRUSILOW, SW ;

VALLE, DL ;

BATSHAW, ML .

LANCET, 1979, 2 (8140) :452-454

[5] SENSITIVITY TO CARBOHYDRATE IN A PATIENT WITH FAMILIAL INTERMITTENT LACTIC-ACIDOSIS AND PYRUVATE-DEHYDROGENASE DEFICIENCY [J].

CEDERBAUM, SD ;

BLASS, JP ;

MINKOFF, N ;

BROWN, WJ ;

COTTON, ME ;

HARRIS, SH .

PEDIATRIC RESEARCH, 1976, 10 (08) :713-720

[6]

COUDE FX, 1978, NEW ENGL J MED, V299, P1365

[7]

COUDE FX, 1981, PEDIATRICS, V68, P914

[8] PROGRESS IN ENDOCRINOLOGY AND METABOLISM - THE METABOLIC EFFECTS OF DICHLOROACETATE [J].

CRABB, DW ;

YOUNT, EA ;

HARRIS, RA .

METABOLISM-CLINICAL AND EXPERIMENTAL, 1981, 30 (10) :1024-1039

[9]

FARMER TW, 1973, NEUROLOGY, V23, P429

[10] ABSENCE OF PYRUVATE DECARBOXYLASE ACTIVITY IN MAN - CAUSE OF CONGENITAL LACTIC ACIDOSIS [J].

FARRELL, DF ;

CLARK, AF ;

SCOTT, CR ;

WENNBERG, RP .

SCIENCE, 1975, 187 (4181) :1082-1084

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