PRENATAL THERAPY OF A PATIENT WITH VITAMIN-B12-RESPONSIVE METHYLMALONIC ACIDEMIA

被引：87

作者：

AMPOLA, MG

MAHONEY, MJ

NAKAMURA, E

TANAKA, K

机构：

[1] YALE UNIV,SCH MED,DEPT HUMAN GENET,NEW HAVEN,CT

[2] YALE UNIV,SCH MED,DEPT PEDIAT,NEW HAVEN,CT

[3] TUFTS UNIV,NEW ENGLAND MED CTR,DEPT PEDIAT,171 HARRISON AVE,BOSTON,MA 02111

来源：

NEW ENGLAND JOURNAL OF MEDICINE | 1975年 / 293卷 / 07期

关键词：

D O I：

10.1056/NEJM197508142930701

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：313 / 317

页数：5

共 17 条

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[13] A DERANGEMENT IN B12 METABOLISM LEADING TO HOMOCYSTINEMIA CYSTATHIONINEMIA AND METHYLMALONIC ACIDURIA [J].

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[14] METHYLMALONIC ACIDURIA - AN INBORN ERROR OF METABOLISM LEADING TO CHRONIC METABOLIC ACIDOSIS [J].

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[15] METHYLMALONIC ACIDURIA - METABOLIC BLOCK LOCALIZATION AND VITAMIN B12 DEPENDENCY [J].

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HSIA, YE .

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[16]

ROSENBERG LE, 1972, METABOLIC BASIS INHE, P440

[17] METHYLMALONIC ACIDEMIA - A NEW INBORN ERROR OF METABOLISM WHICH MAY CAUSE FATAL ACIDOSIS IN NEONATAL PERIOD [J].

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ELDJARN, L ;

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