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

页码：139 / 145

页数：7

共 39 条

[11] DETECTION AND DIFFERENTIATION OF PRODUCTS OF HUMAN CARBONIC-ANHYDRASE LOCI, CAI AND CAII, USING FLUOROGENIC SUBSTRATES [J].

HOPKINSON, DA ;

COPPOCK, JS ;

MUHLEMANN, MF ;

EDWARDS, YH .

ANNALS OF HUMAN GENETICS, 1974, 38 (OCT) :155-169

[12] OSTEOPETROSIS - A CLINICAL GENETIC METABOLIC AND MORPHOLOGIC STUDY OF DOMINANTLY INHERITED BENIGN FORM [J].

JOHNSTON, CC ;

LAVY, N ;

LORD, T ;

VELLIOS, F ;

MERRITT, AD ;

DEISS, WP .

MEDICINE, 1968, 47 (02) :149-+

[13] ERYTHROCYTE CARBONIC ANHYDRASE-I - INHERITED DEFICIENCY IN HUMANS [J].

KENDALL, AG ;

TASHIAN, RE .

SCIENCE, 1977, 197 (4302) :471-472

[14] THE PARA-NITROPHENYL PHOSPHATASE-ACTIVITY OF MUSCLE CARBONIC-ANHYDRASE [J].

KOESTER, MK ;

PULLAN, LM ;

NOLTMANN, EA .

ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS, 1981, 211 (02) :632-642

[15] CARBONIC-ANHYDRASE AND 2', 3' CYCLIC-NUCLEOTIDE 3'-PHOSPHOHYDROLASE ACTIVITY IN NORMAL HUMAN-BRAIN AND IN DEMYELINATING DISEASES [J].

LEES, MB ;

SAPIRSTEIN, VS ;

REISS, DS ;

KOLODNY, EH .

NEUROLOGY, 1980, 30 (07) :719-725

[16] HISTOCHEMICAL-LOCALIZATION OF CARBONIC-ANHYDRASE IN MAMMALIAN TISSUE [J].

LONNERHOLM, G .

ANNALS OF THE NEW YORK ACADEMY OF SCIENCES, 1984, 429 (JUN) :369-381

[17]

LUCCI MS, 1983, AM J PHYSIOL, V245, P443

[18] MORPHOLOGICAL EVIDENCE OF REDUCED BONE-RESORPTION IN OSTEOPETROTIC (OP) MICE [J].

MARKS, SC .

AMERICAN JOURNAL OF ANATOMY, 1982, 163 (02) :157-167

[19] PARTICULATE CARBONIC-ANHYDRASE IN HOMOGENATES OF HUMAN KIDNEY [J].

MCKINLEY, DN ;

WHITNEY, PL .

BIOCHIMICA ET BIOPHYSICA ACTA, 1976, 445 (03) :780-790

[20] CARBONIC-ANHYDRASE AND BONE REMODELING - SULFONAMIDE INHIBITION OF BONE RESORPTION IN ORGAN-CULTURE [J].

MINKIN, C ;

JENNINGS, JM .

SCIENCE, 1972, 176 (4038) :1031-&

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