A COBALAMIN METABOLIC DEFECT WITH HOMOCYSTINURIA, METHYLMALONIC ACIDURIA AND MACROCYTIC ANEMIA

被引：25

作者：

MAMLOK, RJ

ISENBERG, JN

RASSIN, DK

NORCROSS, K

TALLAN, HH

机构：

[1] UNIV TEXAS,MED BRANCH,DEPT PEDIAT,GALVESTON,TX 77550

[2] UNIV TEXAS,MED BRANCH,DEPT NEUROL,GALVESTON,TX 77550

[3] NEW YORK STATE INST BASIC RES DEV DISABIL,STATEN ISL,NY 10314

来源：

NEUROPEDIATRICS | 1986年 / 17卷 / 02期

关键词：

D O I：

10.1055/s-2008-1052508

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

引用

页码：94 / 99

页数：6

共 19 条

[1]

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

[2]

BAUMGARTNER ER, 1979, HELV PAEDIATR ACTA, V34, P465

[3]

BECK WS, 1975, COBALAMIN BIOCH PATH, P403

[4]

CARMEL R, 1980, BLOOD, V55, P570

[5] EPILEPTIFORM OCULAR MOVEMENTS WITH METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA [J].

COGAN, DG ;

SCHULMAN, J ;

PORTER, RJ ;

MUDD, SH .

AMERICAN JOURNAL OF OPHTHALMOLOGY, 1980, 90 (02) :251-253

[6] ASSAY OF METHYLMALONIC ACID IN URINE [J].

DALE, RA .

CLINICA CHIMICA ACTA, 1972, 41 (01) :141-&

[7] INBORN ERROR OF VITAMIN-B12 METABOLISM ASSOCIATED WITH CELLULAR DEFICIENCY OF COENZYME FORMS OF VITAMIN - PATHOLOGICAL AND NEUROCHEMICAL FINDINGS IN ONE CASE [J].

DAYAN, AD ;

RAMSEY, RB .

JOURNAL OF THE NEUROLOGICAL SCIENCES, 1974, 23 (01) :117-128

[8] MENTAL-RETARDATION, MEGALOBLASTIC ANEMIA, METHYLMALONIC ACIDURIA AND ABNORMAL HOMOCYSTEINE METABOLISM DUE TO AN ERROR IN VITAMIN-B12 METABOLISM [J].

DILLON, MJ ;

ENGLAND, JM ;

GOMPERTZ, D ;

GOODEY, PA ;

GRANT, DB ;

HUSSEIN, HAA ;

LINNELL, JC ;

MATTHEWS, DM ;

MUDD, SH ;

NEWNS, GH ;

SEAKINS, JWT ;

UHLENDORF, BW ;

WISE, IJ .

CLINICAL SCIENCE AND MOLECULAR MEDICINE, 1974, 47 (01) :43-61

[9] CYSTATHIONINE SYNTHASE DEFICIENCY - HETEROZYGOTE DETECTION USING CULTURED SKIN FIBROBLASTS [J].

FLEISHER, LD ;

TALLAN, HH ;

BERATIS, NG ;

HIRSCHHORN, K ;

GAULL, GE .

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1973, 55 (01) :38-44

[10]

GIORGIO AJ, 1965, J LAB CLIN MED, V66, P667

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