RAPID DIFFERENTIAL-DIAGNOSIS OF CARBOXYLASE DEFICIENCIES AND EVALUATION FOR BIOTIN-RESPONSIVENESS IN A SINGLE BLOOD-SAMPLE

被引：81

作者：

SUORMALA, T ^{[1
]}

WICK, H ^{[1
]}

BONJOUR, JP ^{[1
]}

BAUMGARTNER, ER ^{[1
]}

机构：

[1] HOFFMANN LA ROCHE & CO LTD,BASEL,SWITZERLAND

来源：

CLINICA CHIMICA ACTA | 1985年 / 145卷 / 02期

关键词：

D O I：

10.1016/0009-8981(85)90282-7

中图分类号：

R446 [实验室诊断]; R-33 [实验医学、医学实验];

学科分类号：

1001 ;

摘要：

引用

页码：151 / 162

页数：12

共 21 条

[1] VITAMIN-RESPONSIVE INBORN-ERRORS OF METABOLISM [J].

BARTLETT, K .

ADVANCES IN CLINICAL CHEMISTRY, 1983, 23 :141-198

[2]

BAUMGARTNER ER, ANN NY ACAD SCI

[3]

BONJOUR JP, 1981, WORLD REV NUTR DIET, V36, P1

[4]

BOYUM A, 1974, TISSUE ANTIGENS, V4, P269

[5] MUTANT HOLOCARBOXYLASE SYNTHETASE - EVIDENCE FOR THE ENZYME DEFECT IN EARLY INFANTILE BIOTIN-RESPONSIVE MULTIPLE CARBOXYLASE DEFICIENCY [J].

BURRI, BJ ;

SWEETMAN, L ;

NYHAN, WL .

JOURNAL OF CLINICAL INVESTIGATION, 1981, 68 (06) :1491-1495

[6]

FRIGG M, 1976, INT J VITAM NUTR RES, V46, P314

[7]

GHNEIM HK, 1982, LANCET, V1, P1187

[8] AVIDIN .1. USE OF [14C]BIOTIN FOR KINETIC STUDIES AND FOR ASSAY [J].

GREEN, NM .

BIOCHEMICAL JOURNAL, 1963, 89 (03) :585-&

[9] PROPIONIC ACIDEMIA - DIAGNOSIS BY ENZYME ASSAY IN FROZEN LEUKOCYTES [J].

HSIA, YE ;

SCULLY, KJ .

JOURNAL OF PEDIATRICS, 1973, 83 (04) :625-628

[10]

KNAPPE J, 1963, BIOCHEM Z, V338, P599

← 1 2 3 →