HYPERPHENYLALANINEMIA DUE TO DIHYDROPTERIDINE REDUCTASE DEFICIENCY - ASSAY OF ENZYME IN FIBROBLASTS FROM AFFECTED INFANTS, HETEROZYGOTES, AND IN NORMAL AMNIOTIC-FLUID CELLS

被引：50

作者：

MILSTIEN, S

HOLTZMAN, NA

OFLYNN, ME

THOMAS, GH

BUTLER, IJ

KAUFMAN, S

机构：

[1] CHILDRENS MEM HOSP, DIV GENET, CHICAGO, IL 60614 USA

[2] NIMH, NEUROCHEM LAB, BETHESDA, MD 20014 USA

[3] JOHNS HOPKINS UNIV, SCH MED, DEPT PEDIAT, BALTIMORE, MD 21218 USA

[4] JOHNS HOPKINS UNIV, SCH MED, DEPT NEUROL, BALTIMORE, MD 21218 USA

[5] JOHNS HOPKINS UNIV, SCH MED, DEPT MED, BALTIMORE, MD 21218 USA

来源：

JOURNAL OF PEDIATRICS | 1976年 / 89卷 / 05期

关键词：

D O I：

10.1016/S0022-3476(76)80798-6

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

引用

页码：763 / 766

页数：4

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KAUFMAN, S .

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[7] PHENYLALANINE HYDROXYLATION COFACTOR IN PHENYLKETONURIA [J].

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[8]

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[9]

LOWRY OH, 1951, J BIOL CHEM, V193, P265

[10]

MAGER HIX, 1967, RECL TRAV CHIM PAY-B, V86, P833

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