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

被引：78

作者：

WOLF, B ^{[1
]}

HEARD, GS ^{[1
]}

JEFFERSON, LG ^{[1
]}

PROUD, VK ^{[1
]}

NANCE, WE ^{[1
]}

WEISSBECKER, KA ^{[1
]}

机构：

[1] VIRGINIA COMMONWEALTH UNIV,MED COLL VIRGINIA,DEPT PEDIAT,RICHMOND,VA 23298

来源：

NEW ENGLAND JOURNAL OF MEDICINE | 1985年 / 313卷 / 01期

关键词：

D O I：

10.1056/NEJM198507043130104

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：16 / 19

页数：4

共 14 条

[1]

Bickel H., 1980, NEONATAL SCREENING I, P1

[2]

COWAN MJ, 1979, LANCET, V2, P115

[3] BIOTIN-RESPONSIVE IMMUNOREGULATORY DYSFUNCTION IN MULTIPLE CARBOXYLASE DEFICIENCY [J].

FISCHER, A ;

MUNNICH, A ;

SAUDUBRAY, JM ;

MAMAS, S ;

COUDE, FX ;

CHARPENTIER, C ;

DRAY, F ;

FREZAL, J ;

GRISCELLI, C .

JOURNAL OF CLINICAL IMMUNOLOGY, 1982, 2 (01) :35-38

[4]

GOODMAN SI, 1981, DIAGNOSIS ORGANIC AC, P105

[5]

HEARD GS, 1984, CLIN CHEM, V30, P125

[6]

HOOD RL, 1980, NUTR REP INT, V21, P727

[7] PHENOTYPIC VARIATION IN BIOTINIDASE DEFICIENCY [J].

WOLF, B ;

GRIER, RE ;

ALLEN, RJ ;

GOODMAN, SI ;

KIEN, CL ;

PARKER, WD ;

HOWELL, DM ;

HURST, DL .

JOURNAL OF PEDIATRICS, 1983, 103 (02) :233-237

[8] 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

[9]

WOLF B, 1983, NEW ENGL J MED, V308, P161

[10] BIOTINIDASE DEFICIENCY DETECTED BY A STATEWIDE NEONATAL SCREENING-PROGRAM [J].

WOLF, B ;

HEARD, GS ;

JEFFERSON, LG ;

NANCE, WE ;

WEISSBECKER, KA .

PEDIATRIC RESEARCH, 1985, 19 (04) :A256-A256

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