AN INBORN ERROR OF PURINE METABOLISM, DEAFNESS AND NEURODEVELOPMENTAL ABNORMALITY

被引：19

作者：

SIMMONDS, HA

WEBSTER, DR

LINGAM, S

WILSON, J

机构：

[1] HOSP SICK CHILDREN,GREAT ORMOND ST,LONDON WC1N 3JH,ENGLAND

[2] GUYS HOSP,PURINE LAB,LONDON SE1 9RT,ENGLAND

来源：

NEUROPEDIATRICS | 1985年 / 16卷 / 02期

关键词：

D O I：

10.1055/s-2008-1052552

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

引用

页码：106 / 108

页数：3

共 6 条

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ADAMS, WB ;

NYHAN, WL .

JOURNAL OF CLINICAL INVESTIGATION, 1980, 65 (01) :109-120

[2] FAMILIAL DISORDER OF URIC ACID METABOLISM + CENTRAL NERVOUS SYSTEM FUNCTION [J].

LESCH, M ;

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[3] HYPERURICEMIA AND NEUROLOGIC DEFICITS - A FAMILY STUDY [J].

ROSENBERG, AL ;

BERGSTROM, L ;

TROOST, BT ;

BARTHOLOMEW, BA .

NEW ENGLAND JOURNAL OF MEDICINE, 1970, 282 (18) :992-+

[4] 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-+

[5]

SIMMONDS HA, 1982, LANCET, V2, P68

[6]

SIMMONDS HA, 1983, PURINE METABOLISM MA, V4

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