Pyruvate carboxylase deficiency

被引：12

作者：

Arnold, GL

Griebel, ML

Porterfield, M

Brewster, M

机构：

[1] Univ Rochester, Sch Med & Dent, Div Pediat Genet, Dept Pediat, Rochester, NY 14642 USA

[2] Univ Arkansas Med Sci, Dept Pediat, Little Rock, AR 72205 USA

[3] Arkansas Childrens Hosp, Little Rock, AR 72202 USA

[4] Univ Arkansas Med Sci, Dept Pathol, Little Rock, AR 72205 USA

来源：

CLINICAL PEDIATRICS | 2001年 / 40卷 / 09期

关键词：

D O I：

10.1177/000992280104000909

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

引用

页码：519 / 521

页数：3

共 10 条

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[2] PYRUVATE-CARBOXYLASE AND PHOSPHOENOLPYRUVATE CARBOXYKINASE ACTIVITY IN LEUKOCYTES AND FIBROBLASTS FROM A PATIENT WITH PYRUVATE-CARBOXYLASE DEFICIENCY [J].

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UTTER, MF ;

WEINBERG, MB .

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[3]

Barritt G.J., 1985, P141

[4] A case of benign pyruvate carboxylase deficiency with normal development [J].

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Rae, MD ;

Logan, RW ;

Robinson, PH .

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[5]

KERR DS, 2000, INBORN METABOLUC DIS, P127

[6]

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[7]

Robinson B H, 1996, Methods Enzymol, V264, P454, DOI 10.1016/S0076-6879(96)64041-5

[8]

ROBINSON BH, 1995, METABOLIC MOL BASES, P1490

[9]

VANCOSTER RN, 1991, PEDIATR RES, V30, P1

[10] Molecular characterization of pyruvate carboxylase deficiency in two consanguineous families [J].

Wexler, ID ;

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Du, YF ;

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Stephenson, W ;

Lusk, MM ;

Wappner, RS ;

Higgins, JJ .

PEDIATRIC RESEARCH, 1998, 43 (05) :579-584

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