ORGANIC ACIDURIA IN LATE-ONSET BIOTIN-RESPONSIVE MULTIPLE CARBOXYLASE DEFICIENCY

被引：11

作者：

ERASMUS, C

MIENIE, LJ

REINECKE, CJ

WADMAN, SK

机构：

[1] POTCHEFSTROOM UNIV CHRISTIAN HIGHER EDUC,DEPT BIOCHEM,POTCHEFSTROOM 2520,SOUTH AFRICA

[2] STATE UNIV UTRECHT,KINDERKLIN WILHELMINA KINDERZIEKENHUIS,UTRECHT,NETHERLANDS

[3] UNIV PRETORIA,DEPT PAEDIAT,PRETORIA 0001,SOUTH AFRICA

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 1985年 / 8卷

关键词：

D O I：

10.1007/BF01811480

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：105 / 106

页数：2

共 7 条

[1]

COWAN MJ, 1979, LANCET, V2, P115

[2]

MUNNICH A, 1981, EUR J PEDIATR, V137, P203

[3] BIOTIN DEFICIENCY WITH NEUROLOGIC AND CUTANEOUS MANIFESTATIONS BUT WITHOUT ORGANIC ACIDURIA [J].

SWICK, HM ;

KIEN, CL .

JOURNAL OF PEDIATRICS, 1983, 103 (02) :265-267

[4]

VANBIERVLIET JPGM, 1977, DEV MED CHILD NEUROL, V19, P392

[5] 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

[6] 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

[7]

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

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