FAILURE OF LYSOSOMAL RELEASE OF VITAMIN-B12 - A NEW COMPLEMENTATION GROUP CAUSING METHYLMALONIC ACIDURIA (CBLF)

被引：0

作者：

WATKINS, D

ROSENBLATT, DS

机构：

[1] MCGILL UNIV,MONTREAL CHILDRENS HOSP,RES INST,DEPT PEDIAT,MONTREAL H3H 1P3,QUEBEC,CANADA

[2] MCGILL UNIV,MONTREAL CHILDRENS HOSP,RES INST,DEPT BIOL,MONTREAL H3H 1P3,QUEBEC,CANADA

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 1986年 / 39卷 / 03期

关键词：

D O I：

暂无

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：404 / 408

页数：5

共 9 条

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[2]

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[3] INTERALLELIC COMPLEMENTATION IN AN INBORN ERROR OF METABOLISM - GENETIC-HETEROGENEITY IN ARGININOSUCCINATE LYASE DEFICIENCY [J].

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SHIH, V ;

CHILTON, S .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES, 1984, 81 (14) :4480-4484

[4]

ROSENBERG LE, 1983, METABOLIC BASIS INHE, P474

[5] DEFECT IN VITAMIN-B12 RELEASE FROM LYSOSOMES - NEWLY DESCRIBED INBORN ERROR OF VITAMIN-B12 METABOLISM [J].

ROSENBLATT, DS ;

HOSACK, A ;

MATIASZUK, NV ;

COOPER, BA ;

LAFRAMBOISE, R .

SCIENCE, 1985, 228 (4705) :1319-1321

[6] ALTERED VITAMIN-B12 METABOLISM IN FIBROBLASTS FROM A PATIENT WITH MEGALOBLASTIC-ANEMIA AND HOMOCYSTINURIA DUE TO A NEW DEFECT IN METHIONINE BIOSYNTHESIS [J].

ROSENBLATT, DS ;

COOPER, BA ;

POTTIER, A ;

LUESHING, H ;

MATIASZUK, N ;

GRAUER, K .

JOURNAL OF CLINICAL INVESTIGATION, 1984, 74 (06) :2149-2156

[7]

ROSENBLATT DS, 1986, PEDIATRICS

[8] 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

[9]

WILLARD HF, 1978, AM J HUM GENET, V30, P1

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