X-LINKED URIC ACIDURIA WITH NEUROLOGICAL DISEASE AND SELF-MUTILATION - DIAGNOTTIC TEST FOR ENZYME DEFECT

被引:17
作者
FUJIMOTO, WY
GREENE, ML
SEEGMILLER, JE
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D O I
10.1016/S0022-3476(68)80250-1
中图分类号
R72 [儿科学];
学科分类号
100202 ;
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页码:920 / +
页数:1
相关论文
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[1]  
BERMAN PH, 1968, J LAB CLIN MED, V71, P247
[2]   URINE URIC ACID TO CREATININE RATIO - A SCREENING TEST FOR INHERITED DISORDERS OF PURINE METABOLISM - PHOSPHORIBOSYLTRANSFERASE (PRT) DEFICIENCY IN X-LINKED CEREBRAL PALSY AND IN A VARIANT OF GOUT [J].
KAUFMAN, JM ;
GREENE, ML ;
SEEGMILLER, JE .
JOURNAL OF PEDIATRICS, 1968, 73 (04) :583-+
[3]   A SPECIFIC ENZYME DEFECT IN GOUT ASSOCIATED WITH OVERPRODUCTION OF URIC ACID [J].
KELLEY, WN ;
ROSENBLO.FM ;
HENDERSO.JF ;
SEEGMILL.JE .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1967, 57 (06) :1735-+
[4]   FAMILIAL DISORDER OF URIC ACID METABOLISM + CENTRAL NERVOUS SYSTEM FUNCTION [J].
LESCH, M ;
NYHAN, WL .
AMERICAN JOURNAL OF MEDICINE, 1964, 36 (04) :561-&
[5]  
ROSENBLOOM FM, 1968, J BIOL CHEM, V243, P1166
[6]   ENZYME DEFECT ASSOCIATED WITH A SEX-LINKED HUMAN NEUROLOGICAL DISORDER AND EXCESSIVE PURINE SYNTHESIS [J].
SEEGMILLER, JE ;
ROSENBLOOM, FM ;
KELLEY, WN .
SCIENCE, 1967, 155 (3770) :1682-+