GLUTARIC ACIDURIA TYPE-1 - BIOCHEMICAL INVESTIGATIONS AND POSTMORTEM FINDINGS

被引：43

作者：

BENNETT, MJ

MARLOW, N

POLLITT, RJ

WALES, JKH

机构：

[1] CHILDRENS HOSP,DEPT PAEDIAT,SHEFFIELD S10 2TH,S YORKSHIRE,ENGLAND

[2] UNIV SHEFFIELD,MIDDLEWOOD HOSP,DEPT PSYCHIAT,SHEFFIELD S6 1TP,S YORKSHIRE,ENGLAND

来源：

关键词：

D O I：

10.1007/BF00439248

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

引用

页码：403 / 405

页数：3

共 15 条

[1] GLUTARIC ACIDURIA TYPE-II - BIOCHEMICAL INVESTIGATION AND TREATMENT OF A CHILD DIAGNOSED PRENATALLY
BENNETT, MJ
CURNOCK, DA
ENGEL, PC
SHAW, L
GRAY, RGF
HULL, D
PATRICK, AD
POLLITT, RJ
[J]. JOURNAL OF INHERITED METABOLIC DISEASE, 1984, 7 (02) : 57 - 61
[2] BRANDT NJ, 1978, CLIN GENET, V13, P77
[3] CHALMERS RA, 1984, 22ND S SOC STUD INB, pA26
[4] STUDIES ON GLUTARYL-COA DEHYDROGENASE IN LEUKOCYTES, FIBROBLASTS AND AMNIOTIC-FLUID CELLS - NORMAL ENZYME AND MUTANT FORM IN PATIENTS WITH GLUTARIC ACIDURIA
CHRISTENSEN, E
BRANDT, NJ
[J]. CLINICA CHIMICA ACTA, 1978, 88 (02) : 267 - 276
[5] GLUTARIC ACIDURIA TYPE-I PRESENTING WITH HYPOGLYCEMIA
DUNGER, DB
SNODGRASS, GJAI
[J]. JOURNAL OF INHERITED METABOLIC DISEASE, 1984, 7 (03) : 122 - 124
[6] FLORET D, 1979, ARCH FR PEDIATR, V36, P462
[7] GOODMAN SI, 1980, AM J HUM GENET, V32, P695
[8] GLUTARIC ACIDURIA - NEW DISORDER OF AMINO-ACID METABOLISM
GOODMAN, SI
MARKEY, SP
MOE, PG
MILES, BS
TENG, CC
[J]. BIOCHEMICAL MEDICINE, 1975, 12 (01): : 12 - 21
[9] GOODMAN SI, 1977, J PEDIATR-US, V90, P746, DOI 10.1016/S0022-3476(77)81240-7
[10] GOODMAN SI, 1981, DIAGNOSIS ORGANIC AC