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

[11]

GOODMAN SI, 1981, DIAGNOSIS ORGANIC AC

[12]

HENSGENS HESJ, 1980, BIOCHEM J, V186, P1

[13]

Mahoney M J, 1976, Clin Perinatol, V3, P61

[14] DEFICIENCY OF DIHYDROLIPOYL DEHYDROGENASE (A COMPONENT OF PYRUVATE AND ALPHA-KETOGLUTARATE DEHYDROGENASE COMPLEXES) - CAUSE OF CONGENITAL CHRONIC LACTIC-ACIDOSIS IN INFANCY [J].

ROBINSON, BH ;

TAYLOR, J ;

SHERWOOD, WG .

PEDIATRIC RESEARCH, 1977, 11 (12) :1198-1202

[15] PYRUVATE-DEHYDROGENASE PHOSPHATASE DEFICIENCY - CAUSE OF CONGENITAL CHRONIC LACTIC ACIDOSIS IN INFANCY [J].

ROBINSON, BH ;

SHERWOOD, WG .

PEDIATRIC RESEARCH, 1975, 9 (12) :935-939

[16] THE GENETIC-HETEROGENEITY OF LACTIC-ACIDOSIS - OCCURRENCE OF RECOGNIZABLE INBORN-ERRORS OF METABOLISM IN A PEDIATRIC POPULATION WITH LACTIC-ACIDOSIS [J].

ROBINSON, BH ;

TAYLOR, J ;

SHERWOOD, WG .

PEDIATRIC RESEARCH, 1980, 14 (08) :956-962

[17] LACTIC ACIDEMIA, NEUROLOGIC DETERIORATION AND CARBOHYDRATE DEPENDENCE IN A GIRL WITH DIHYDROLIPOYL DEHYDROGENASE-DEFICIENCY [J].

ROBINSON, BH ;

TAYLOR, J ;

KAHLER, SG ;

KIRKMAN, HN .

EUROPEAN JOURNAL OF PEDIATRICS, 1981, 136 (01) :35-39

[18] FATAL LACTIC ACIDOSIS IN A NEWBORN ATTRIBUTABLE TO A CONGENITAL DEFECT OF PYRUVATE-DEHYDROGENASE [J].

STROMME, JH ;

BORUD, O ;

MOE, PJ .

PEDIATRIC RESEARCH, 1976, 10 (01) :60-66

← 1 2 →