THE NATURAL-HISTORY OF THE INHERITED METHYLMALONIC ACIDEMIAS

被引：237

作者：

MATSUI, SM ^{[1
]}

MAHONEY, MJ ^{[1
]}

ROSENBERG, LE ^{[1
]}

机构：

[1] YALE UNIV,SCH MED,DEPT HUMAN GENET,NEW HAVEN,CT 06510

来源：

NEW ENGLAND JOURNAL OF MEDICINE | 1983年 / 308卷 / 15期

关键词：

D O I：

10.1056/NEJM198304143081501

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：857 / 861

页数：5

共 20 条

[1]

AMPOLA MG, 1975, NEW ENGL J MED, V293, P314

[2] GENETIC AND BIOCHEMICAL-ANALYSIS OF HUMAN COBALAMIN MUTANTS IN CELL-CULTURE [J].

FENTON, WA ;

ROSENBERG, LE .

ANNUAL REVIEW OF GENETICS, 1978, 12 :223-248

[3] GENETIC COMPLEMENTATION IN HETEROKARYONS OF HUMAN FIBROBLASTS DEFECTIVE IN COBALAMIN METABOLISM [J].

GRAVEL, RA ;

MAHONEY, MJ ;

RUDDLE, FH ;

ROSENBERG, LE .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1975, 72 (08) :3181-3185

[4] IMMUNOCHEMICAL STUDIES ON CULTURED FIBROBLASTS FROM PATIENTS WITH INHERITED METHYLMALONIC ACIDEMIA [J].

KOLHOUSE, JF ;

UTLEY, C ;

FENTON, WA ;

ROSENBERG, LE .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES, 1981, 78 (12) :7737-7741

[5] EFFECT OF COBAMIDE COENZYME IN METHYLMALONIC ACIDEMIA [J].

LINDBLAD, B ;

LINDSTRAND, K ;

SVANBERG, B ;

ZETTERSTROM, R .

ACTA PAEDIATRICA SCANDINAVICA, 1969, 58 (02) :178-+

[6] METHYLMALONIC ACIDEMIA - A DISORDER ASSOCIATED WITH ACIDOSIS HYPERGLYCINEMIA AND HYPERLACTATEMIA [J].

LINDBLAD, B ;

LINDBLAD, BS ;

OLIN, P ;

SVANBERG, B ;

ZETTERSTROM, R .

ACTA PAEDIATRICA SCANDINAVICA, 1968, 57 (05) :417-+

[7] METHYLMALONICACIDEMIA - BIOCHEMICAL HETEROGENEITY IN DEFECTS OF 5'-DEOXYADENOSYLCOBALAMIN SYNTHESIS [J].

MAHONEY, MJ ;

HART, AC ;

STEEN, VD ;

ROSENBERG, LE .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1975, 72 (07) :2799-2803

[8] COBALAMIN BINDING AND COBALAMIN-DEPENDENT ENZYME-ACTIVITY IN NORMAL AND MUTANT HUMAN FIBROBLASTS [J].

MELLMAN, I ;

WILLARD, HF ;

ROSENBERG, LE .

JOURNAL OF CLINICAL INVESTIGATION, 1978, 62 (05) :952-960

[9] OBSERVATIONS ON COEXISTENCE OF METHYLMALONIC ACIDEMIA AND GLYCINEMIA [J].

MORROW, G ;

BARNESS, LA ;

AUERBACH, VH ;

DIGEORGE, AM ;

ANDO, T ;

NYHAN, WL .

JOURNAL OF PEDIATRICS, 1969, 74 (05) :680-&

[10] STUDIES OF METHYLMALONYL COENZYME-A CARBONYLMUTASE ACTIVITY IN METHYLMALONIC ACIDEMIA .1. CORRELATION OF CLINICAL HEPATIC, AND FIBROBLAST DATA [J].

MORROW, G ;

MAHONEY, MJ ;

MATHEWS, C ;

LEBOWITZ, J .

PEDIATRIC RESEARCH, 1975, 9 (08) :641-644

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