IMPROVED IDENTIFICATION OF HETEROZYGOTES FOR HOMOCYSTINURIA DUE TO CYSTATHIONINE SYNTHASE DEFICIENCY BY THE COMBINATION OF METHIONINE LOADING AND ENZYME DETERMINATION IN CULTURED FIBROBLASTS

被引：94

作者：

BOERS, GHJ

FOWLER, B

SMALS, AGH

TRIJBELS, FJM

LEERMAKERS, AI

KLEIJER, WJ

KLOPPENBORG, PWC

机构：

[1] ROYAL MANCHESTER CHILDRENS HOSP,WILLINK BIOCHEM GENET UNIT,MANCHESTER M27 1HA,LANCS,ENGLAND

[2] CATHOLIC UNIV NIJMEGEN,ST RADBOUD HOSP,DEPT PEDIAT,NIJMEGEN,NETHERLANDS

[3] ERASMUS UNIV,DEPT CLIN GENET,3000 DR ROTTERDAM,NETHERLANDS

来源：

HUMAN GENETICS | 1985年 / 69卷 / 02期

关键词：

D O I：

10.1007/BF00293290

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：164 / 169

页数：6

共 22 条

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