ENZYME STUDIES IN BIOTIN-RESPONSIVE DISORDERS

被引：12

作者：

BARTLETT, K ^{[1
]}

GHNEIM, HK ^{[1
]}

STIRK, HJ ^{[1
]}

WASTELL, H ^{[1
]}

机构：

[1] UNIV NEWCASTLE UPON TYNE,SCH MED,DEPT CLIN BIOCHEM,NEWCASTLE TYNE NE2 4HH,ENGLAND

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 1985年 / 8卷

关键词：

D O I：

10.1007/BF01800659

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：46 / 52

页数：7

共 54 条

[1] A NEW ASSAY METHOD FOR BIOTIN IN BLOOD, SERUM, URINE, AND TISSUES [J].

BAKER, H ;

HUTNER, SH ;

PASHER, I ;

AARONSON, S ;

FRANK, O ;

SOBOTKA, H ;

MATOVITC.VB .

ANALYTICAL BIOCHEMISTRY, 1962, 3 (01) :31-&

[2] PYRUVATE-CARBOXYLASE DEFICIENCY [J].

BARTLETT, K ;

GHNEIM, HK ;

STIRK, JH ;

DALE, G ;

ALBERTI, KGMM .

JOURNAL OF INHERITED METABOLIC DISEASE, 1984, 7 :74-78

[3] COMBINED DEFECT OF 3 MITOCHONDRIAL CARBOXYLASES PRESENTING AS BIOTIN-RESPONSIVE 3-METHYLCROTONYL GLYCINURIA AND 3-HYDROXYISOVALERIC ACIDURIA [J].

BARTLETT, K ;

NG, H ;

LEONARD, JV .

CLINICA CHIMICA ACTA, 1980, 100 (02) :183-186

[4] RELATIONSHIP BETWEEN PLASMA BIOTIN CONCENTRATION AND CIRCULATING LEUKOCYTE BETA-METHYLCROTONYL-COA CARBOXYLASE AND PROPIONYL-COA CARBOXYLASE [J].

BARTLETT, K ;

HORSBURGH, T ;

GOMPERTZ, D .

CLINICAL SCIENCE, 1980, 58 (01) :111-114

[5] BIOTIN ACTIVATION OF CARBOXYLASE ACTIVITY IN CULTURED FIBROBLASTS FROM A CHILD WITH A COMBINED CARBOXYLASE DEFECT [J].

BARTLETT, K ;

GOMPERTZ, D .

CLINICA CHIMICA ACTA, 1978, 84 (03) :399-401

[6]

BARTLETT K, 1976, LANCET, V2, P803

[7]

BARTLETT K, 1984, J INHER METAB DIS, V7, P184

[8]

BARTLETT K, 1985, P NATL ACAD SCI US

[9]

BAUMGARTNER ER, 1985, J INHER METAB DIS, V8

[10]

BAUMGARTNER ER, 1984, J INHER METAB DIS S2, V7, P501

← 1 2 3 4 5 6 →