A SIMPLE METHOD FOR QUANTIFICATION OF BIOTINIDASE ACTIVITY IN DRIED BLOOD SPOT AND ITS APPLICATION TO SCREENING OF BIOTINIDASE DEFICIENCY

被引：14

作者：

YAMAGUCHI, A

FUKUSHI, M

ARAI, O

MIZUSHIMA, Y

SATO, Y

SHIMIZU, Y

TOMIDOKORO, K

TAKASUGI, N

机构：

来源：

TOHOKU JOURNAL OF EXPERIMENTAL MEDICINE | 1987年 / 152卷 / 04期

关键词：

D O I：

10.1620/tjem.152.339

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：339 / 346

页数：8

共 4 条

[1]

HEARD GS, 1984, CLIN CHEM, V30, P125

[2] NEONATAL SCREENING FOR BIOTINIDASE DEFICIENCY - RESULTS OF A 1-YEAR PILOT-STUDY [J].

HEARD, GS ;

WOLF, B ;

JEFFERSON, LG ;

WEISSBECKER, KA ;

NANCE, WE ;

MCVOY, JRS ;

NAPOLITANO, A ;

MITCHELL, PL ;

LAMBERT, FW ;

LINYEAR, AS .

JOURNAL OF PEDIATRICS, 1986, 108 (01) :40-46

[3] BIOTINIDASE DEFICIENCY - THE ENZYMATIC DEFECT IN LATE-ONSET MULTIPLE CARBOXYLASE DEFICIENCY [J].

WOLF, B ;

GRIER, RE ;

ALLEN, RJ ;

GOODMAN, SI ;

KIEN, CL .

CLINICA CHIMICA ACTA, 1983, 131 (03) :273-281

[4] CLINICAL FINDINGS IN 4 CHILDREN WITH BIOTINIDASE DEFICIENCY DETECTED THROUGH A STATEWIDE NEONATAL SCREENING-PROGRAM [J].

WOLF, B ;

HEARD, GS ;

JEFFERSON, LG ;

PROUD, VK ;

NANCE, WE ;

WEISSBECKER, KA .

NEW ENGLAND JOURNAL OF MEDICINE, 1985, 313 (01) :16-19

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