OROTIC ACIDURIA IN 2 UNRELATED PATIENTS WITH INHERITED DEFICIENCIES OF PURINE NUCLEOSIDE PHOSPHORYLASE

被引：28

作者：

COHEN, A

STAAL, GEJ

AMMANN, AJ

MARTIN, DW

机构：

[1] UNIV CALIF SAN FRANCISCO,DEPT MED,SAN FRANCISCO,CA 94132

[2] UNIV CALIF SAN FRANCISCO,DEPT BIOCHEM & BIOPHYS,SAN FRANCISCO,CA 94132

[3] UNIV CALIF SAN FRANCISCO,DEPT PEDIAT,SAN FRANCISCO,CA 94132

[4] ACAD UTRECHT HOSP,DEPT MED ENZYMOL,UTRECHT,NETHERLANDS

来源：

JOURNAL OF CLINICAL INVESTIGATION | 1977年 / 60卷 / 02期

关键词：

D O I：

10.1172/JCI108800

中图分类号：

R-3 [医学研究方法]; R3 [基础医学];

学科分类号：

1001 ;

摘要：

引用

页码：491 / 494

页数：4

共 15 条

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[3] NUCLEOSIDE-PHOSPHORYLASE DEFICIENCY IN A CHILD WITH SEVERELY DEFECTIVE T-CELL IMMUNITY AND NORMAL B-CELL IMMUNITY
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[4] CHARACTERIZATION OF A FEEDBACK-RESISTANT PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE FROM CULTURED, MUTAGENIZED HEPATOMA-CELLS THAT OVERPRODUCE PURINES
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[J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1973, 70 (12) : 3698 - 3702
[5] PYRIMIDINE STARVATION INDUCED BY ADENOSINE IN FIBROBLASTS AND LYMPHOID CELLS - ROLE OF ADENOSINE DEAMINASE
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CHAN, TS
[J]. SCIENCE, 1973, 182 (4114) : 836 - 837
[6] ISHII K, 1973, J CELL SCI, V13, P429
[7] HYPERAMMONAEMIA - A DEFICIENCY OF LIVER ORNITHINE TRANSCARBAMYLASE - OCCURRENCE IN MOTHER AND CHILD
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[J]. ARCHIVES OF DISEASE IN CHILDHOOD, 1969, 44 (234) : 152 - +
[8] EXCRETION OF OROTIC ACID AND OROTIDINE IN HETEROZYGOTES OF CONGENITAL OROTIC ACIDURIA
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[J]. NATURE, 1963, 197 (486) : 194 - &
[9] PURINE METABOLISM IN ADENOSINE-DEAMINASE DEFICIENCY
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[J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1976, 73 (08) : 2867 - 2871
[10] INTRACELLULAR 5-PHOSPHORIBOSYL-1-PYROPHOSPHATE - DECREASED AVAILABILITY DURING GLUTAMINE LIMITATION
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[J]. SCIENCE, 1976, 193 (4253) : 587 - 588

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