CLINICAL HETEROGENEITY IN COBALAMIN-C VARIANT OF COMBINED HOMOCYSTINURIA AND METHYLMALONIC ACIDURIA

被引：52

作者：

MITCHELL, GA

WATKINS, D

MELANCON, SB

ROSENBLATT, DS

GEOFFROY, G

ORQUIN, J

HOMSY, MB

DALLAIRE, L

机构：

[1] MCGILL UNIV, CTR HUMAN GENET, MRC, GENET GRP, 2300 TUPPER ST, MONTREAL H3H 1P3, QUEBEC, CANADA

[2] MCGILL UNIV, DEPT PEDIAT, MONTREAL H3H 1P3, QUEBEC, CANADA

[3] MCGILL UNIV, DEPT BIOL, MONTREAL H3H 1P3, QUEBEC, CANADA

[4] HOP ST JUSTINE, CTR RECH PEDIAT, MONTREAL H3T 1C5, QUEBEC, CANADA

[5] UNIV MONTREAL, RESEAU MED GENET QUEBEC, MONTREAL H3C 3J7, QUEBEC, CANADA

来源：

JOURNAL OF PEDIATRICS | 1986年 / 108卷 / 03期

关键词：

D O I：

10.1016/S0022-3476(86)80882-4

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

引用

页码：410 / 415

页数：6

共 23 条

[1]

CARMEL R, 1982, BLOOD, V59, P306

[2] 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

[3] POLYETHYLENE GLYCOL-INDUCED MAMMALIAN-CELL HYBRIDIZATION - EFFECT OF POLYETHYLENE-GLYCOL MOLECULAR-WEIGHT AND CONCENTRATION [J].

DAVIDSON, RL ;

OMALLEY, KA ;

WHEELER, TB .

SOMATIC CELL GENETICS, 1976, 2 (03) :271-280

[4]

GOODMAN SI, 1981, DIAGNOSIS ORGANIC AC, P105

[5]

HIGGINBOTTOM MC, 1978, NEW ENGL J MED, V299, P17

[6] 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

[7]

MAMLOK R J, 1984, Pediatric Research, V18, p223A, DOI 10.1203/00006450-198404001-00780

[8] THE NATURAL-HISTORY OF THE INHERITED METHYLMALONIC ACIDEMIAS [J].

MATSUI, SM ;

MAHONEY, MJ ;

ROSENBERG, LE .

NEW ENGLAND JOURNAL OF MEDICINE, 1983, 308 (15) :857-861

[9] COBALAMIN DEFICIENCY AND RELATED DISORDERS IN INFANCY AND CHILDHOOD [J].

MATTHEWS, DM ;

LINNELL, JC .

EUROPEAN JOURNAL OF PEDIATRICS, 1982, 138 (01) :6-16

[10] DICARBOXYLIC AMINOACIDURIA - INBORN ERROR OF AMINO-ACID CONSERVATION [J].

MELANCON, SB ;

DALLAIRE, L ;

LEMIEUX, B ;

ROBITAILLE, P ;

POTIER, M .

JOURNAL OF PEDIATRICS, 1977, 91 (03) :422-427

← 1 2 3 →