ASYMPTOMATIC PROPIONYL COA CARBOXYLASE DEFICIENCY IN A 13-YEAR-OLD GIRL

被引：34

作者：

WOLF, B

PAULSEN, EP

HSIA, YE

机构：

[1] UNIV VIRGINIA, SCH MED, DEPT BIOCHEM, CHARLOTTESVILLE, VA 22903 USA

[2] UNIV HAWAII, SCH MED, DEPT PEDIAT, HONOLULU, HI 96822 USA

[3] UNIV HAWAII, SCH MED, DEPT GENET, HONOLULU, HI 96822 USA

[4] MED COLL VIRGINIA, DEPT PEDIAT, RICHMOND, VA 23298 USA

[5] UNIV VIRGINIA, SCH MED, DEPT PEDIAT, CHARLOTTESVILLE, VA 22903 USA

来源：

JOURNAL OF PEDIATRICS | 1979年 / 95卷 / 04期

关键词：

D O I：

10.1016/S0022-3476(79)80768-4

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

[No abstract available]

引用

页码：563 / 565

页数：3

共 9 条

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[2]

GOODMAN SI, 1972, ANTENATAL DIAGNOSIS, P127

[3]

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[4]

ROSENBERG LE, 1978, METABOLIC BASIS INHE, P413

[5]

SCRIVER CR, 1973, AMINO ACID METABOLIS, P17

[6]

TANAKA K, 1975, BIOL BRAIN DYSFUNCTI, V3

[7] CORRELATION BETWEEN SERUM PROPIONATE AND BLOOD AMMONIA CONCENTRATIONS IN PROPIONIC ACIDEMIA [J].

WOLF, B ;

HSIA, YE ;

TANAKA, K ;

ROSENBERG, LE .

JOURNAL OF PEDIATRICS, 1978, 93 (03) :471-473

[8] HETEROZYGOTE EXPRESSION IN PROPIONYL COENZYME A CARBOXYLASE DEFICIENCY - DIFFERENCES BETWEEN MAJOR COMPLEMENTATION GROUPS [J].

WOLF, B ;

ROSENBERG, LE .

JOURNAL OF CLINICAL INVESTIGATION, 1978, 62 (05) :931-936

[9]

WOLF B, 1978, AM J HUM GENET, V30, P455

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