BIOTIN-RESPONSIVE 3-METHYLCROTONYLGLYCINURIA WITH BIOTINIDASE DEFICIENCY

被引：5

作者：

GRETER, J ^{[1
]}

HOLME, E ^{[1
]}

LINDSTEDT, S ^{[1
]}

KOIVIKKO, M ^{[1
]}

机构：

[1] UNIV TAMPERE,CENT HOSP,DEPT PEDIAT,SF-33520 TAMPERE 52,FINLAND

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 1985年 / 8卷

关键词：

D O I：

10.1007/BF01811479

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：103 / 104

页数：2

共 6 条

[1]

BONJOUR JP, 1977, INT J VITAM NUTR RES, V47, P107

[2]

HEARD GS, 1984, CLIN CHEM, V30, P125

[3]

KNAPPE J, 1963, BIOCHEM Z, V338, P599

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

SWICK, HM ;

KIEN, CL .

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

[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

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