PROPIONYL COENZYME-A CARBOXYLASE DEFICIENCY PRESENTING AS NON-KETOTIC HYPERGLYCINEMIA

被引：7

作者：

HARRIS, DJ

THOMPSON, RM

WOLF, B

YANG, BIY

机构：

[1] UNIV MISSOURI,DEPT CHEM,COLUMBIA,MO 65212

[2] INDIANA UNIV,BLOOMINGTON,IN 47401

[3] MED COLL VIRGINIA,DEPT HUMAN GENET,CHARLOTTESVILLE,VA

来源：

JOURNAL OF MEDICAL GENETICS | 1981年 / 18卷 / 02期

关键词：

D O I：

10.1136/jmg.18.2.156

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：156 / 157

页数：2

共 8 条

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[2]

FARRIAUX JP, 1976, NEW ENGL J MED, V294, P558

[3]

NYHAN WL, 1978, METABOLIC BASIS INHE, P518

[4] NONKETOTIC HYPERGLYCINEMIA - GLYCINE ACCUMULATION DUE TO ABSENCE OF GLYCINE CLEAVAGE IN BRAIN [J].

PERRY, TL ;

URQUHART, N ;

MACLEAN, J ;

EVANS, ME ;

HANSEN, S ;

DAVIDSON, AGF ;

APPLEGARTH, DA ;

MACLEOD, PJ ;

LOCK, JE .

NEW ENGLAND JOURNAL OF MEDICINE, 1975, 292 (24) :1269-1273

[5]

ROSENBERG LE, 1978, METABOLIC BASIS INHE, P411

[6]

SCRIVER CR, 1975, NEW ENGL J MED, V293, P778

[7] PROPIONIC ACIDEMIA WITH SEVERE HYPER-AMMONEMIA AND DEFECTIVE GLYCINE METABOLISM [J].

SHAFAI, T ;

SWEETMAN, L ;

WEYLER, W ;

GOODMAN, SI ;

FENNESSEY, PV ;

NYHAN, WL .

JOURNAL OF PEDIATRICS, 1978, 92 (01) :84-86

[8]

WOLF B, 1978, AM J HUM GENET, V30, P455

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