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
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
收藏
页码:94 / 99
页数:6
相关论文
共 19 条
[11]   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-+
[12]   EVOKED-RESPONSES IN VITAMIN-B12 DEFICIENCY [J].
KRUMHOLZ, A ;
WEISS, HD ;
GOLDSTEIN, PJ ;
HARRIS, KC .
ANNALS OF NEUROLOGY, 1981, 9 (04) :407-409
[13]   MAMMALIAN METHYLENETETRAHYDROFOLATE REDUCTASE - PARTIAL PURIFICATION, PROPERTIES, AND INHIBITION BY S-ADENOSYLMETHIONINE [J].
KUTZBACH, C ;
STOKSTAD, EL .
BIOCHIMICA ET BIOPHYSICA ACTA, 1971, 250 (03) :459-&
[14]   A DERANGEMENT IN B12-METABOLISM ASSOCIATED WITH HOMOCYSTINEMIA, CYSTATHIONINEMIA, HYPOMETHIONINEMIA AND METHYLMALONIC ACIDURIA [J].
LEVY, HL ;
MUDD, SH ;
SCHULMAN, JD ;
DREYFUS, PM ;
ABELES, RH .
AMERICAN JOURNAL OF MEDICINE, 1970, 48 (03) :390-+
[15]   ABNORMAL COBALAMIN METABOLISM IN A MEGALOBLASTIC CHILD WITH HOMOCYSTINURIA, CYSTATHIONINURIA AND METHYLMALONIC ACIDURIA [J].
LINNELL, JC ;
MIRANDA, B ;
BHATT, HR ;
DOWTON, SB ;
LEVY, HL .
JOURNAL OF INHERITED METABOLIC DISEASE, 1983, 6 :137-139
[16]   COBALAMIN DEFICIENCY AND RELATED DISORDERS IN INFANCY AND CHILDHOOD [J].
MATTHEWS, DM ;
LINNELL, JC .
EUROPEAN JOURNAL OF PEDIATRICS, 1982, 138 (01) :6-16
[17]   DERANGED B12 METABOLISM - EFFECTS ON SULFUR AMINO ACID METABOLISM [J].
MUDD, SH ;
LEVY, HL ;
MORROW, G .
BIOCHEMICAL MEDICINE, 1970, 4 (3-4) :193-+
[18]   HOMOCYSTINURIA AND MEGALOBLASTIC-ANEMIA RESPONSIVE TO VITAMIN-B12 THERAPY - AN INBORN ERROR OF METABOLISM DUE TO A DEFECT IN COBALAMIN METABOLISM [J].
SCHUH, S ;
ROSENBLATT, DS ;
COOPER, BA ;
SCHROEDER, ML ;
BISHOP, AJ ;
SEARGEANT, LE ;
HAWORTH, JC .
NEW ENGLAND JOURNAL OF MEDICINE, 1984, 310 (11) :686-690
[19]   VISUAL EVOKED-RESPONSES IN PERNICIOUS-ANEMIA [J].
TRONCOSO, J ;
MANCALL, EL ;
SCHATZ, NJ .
ARCHIVES OF NEUROLOGY, 1979, 36 (03) :168-169