HEREDITARY DEFECT OF COBALAMIN METABOLISM (CBLG MUTATION) PRESENTING AS A NEUROLOGIC DISORDER IN ADULTHOOD

被引：66

作者：

CARMEL, R

WATKINS, D

GOODMAN, SI

ROSENBLATT, DS

机构：

[1] UNIV SO CALIF,LOS ANGELES CTY MED CTR,LOS ANGELES,CA 90033

[2] CANADA GENET GRP,MRC,MONTREAL,QUEBEC,CANADA

[3] MCGILL UNIV,DEPT MED,MONTREAL H3A 2T5,QUEBEC,CANADA

[4] MCGILL UNIV,DEPT PEDIAT,MONTREAL H3A 2T5,QUEBEC,CANADA

[5] MCGILL UNIV,DEPT BIOL,MONTREAL H3A 2T5,QUEBEC,CANADA

[6] UNIV COLORADO,HLTH SCI CTR,SCH MED,DEPT PEDIAT,DENVER,CO 80262

来源：

NEW ENGLAND JOURNAL OF MEDICINE | 1988年 / 318卷 / 26期

关键词：

D O I：

10.1056/NEJM198806303182607

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：1738 / 1741

页数：4

共 22 条

[1]

ANTHONY M, 1976, Proceedings of the Australian Association of Neurologists, V13, P61

[2]

CARMEL R, 1988, P SOC EXP BIOL MED, V188, P77

[3]

CARMEL R, 1988, J LAB CLIN MED, V111, P57

[4]

CARMEL R, 1987, J LAB CLIN MED, V109, P454

[5]

CARMEL R, 1982, BLOOD, V59, P306

[6] THE DISTRIBUTION OF ENDOGENOUS COBALAMIN AMONG COBALAMIN-BINDING PROTEINS IN THE BLOOD IN NORMAL AND ABNORMAL STATES [J].

CARMEL, R .

AMERICAN JOURNAL OF CLINICAL NUTRITION, 1985, 41 (04) :713-719

[7] EFFECT OF RHODIUM AND COPPER ANALOGS OF COBALAMIN ON HUMAN CELLS INVITRO [J].

CARMEL, R ;

KOPPENHAGEN, VB .

ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS, 1977, 184 (01) :135-140

[8]

COOPER BA, 1987, ANNU REV NUTR, V7, P291, DOI 10.1146/annurev.nu.07.070187.001451

[9] HOMOCYSTINURIA WITH METHYLMALONIC ACIDURIA - 2 CASES IN A SIBSHIP [J].

GOODMAN, SI ;

MOE, PG ;

HAMMOND, KB ;

MUDD, SH ;

UHLENDORF, BW .

BIOCHEMICAL MEDICINE, 1970, 4 (5-6) :500-+

[10]

GOODMAN SI, 1981, DIAGNOSIS ORGANIC AC, P105

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