CARBONIC ANHYDRASE-II DEFICIENCY IN 12 FAMILIES WITH THE AUTOSOMAL RECESSIVE SYNDROME OF OSTEOPETROSIS WITH RENAL TUBULAR-ACIDOSIS AND CEREBRAL CALCIFICATION

被引：248

作者：

SLY, WS

WHYTE, MP

SUNDARAM, V

TASHIAN, RE

HEWETTEMMETT, D

GUIBAUD, P

VAINSEL, M

BALUARTE, HJ

GRUSKIN, A

ALMOSAWI, M

SAKATI, N

OHLSSON, A

机构：

[1] AMIRE HOSP,KUWAIT CITY,KUWAIT

[2] WASHINGTON UNIV,SCH MED,DEPT MED,DIV BONE & MINERAL METAB,ST LOUIS,MO 63110

[3] WASHINGTON UNIV,SCH MED,DEPT PEDIAT,ST LOUIS,MO 63110

[4] UNIV MICHIGAN,SCH MED,DEPT HUMAN GENET,ANN ARBOR,MI 48104

[5] HOP DEBROUSSE,F-69005 LYON,FRANCE

[6] HOP UNIV ST PIERRE,B-1000 BRUSSELS,BELGIUM

[7] ST CHRISTOPHERS HOSP CHILDREN,PHILADELPHIA,PA 19133

[8] KING FAISAL SPECIALIST HOSP & RES CTR,RIYADH,SAUDI ARABIA

来源：

关键词：

D O I：

10.1056/NEJM198507183130302

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：139 / 145

页数：7

共 39 条

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