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：
NEW ENGLAND JOURNAL OF MEDICINE | 1985年 / 313卷 / 03期
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
收藏
页码：139 / 145
页数：7
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