DIAGNOSIS OF ISOVALERIC ACIDEMIA IN CULTURED FIBROBLASTS

被引：15

作者：

SHIH, VE

MANDELL, R

TANAKA, K

机构：

[1] MASSACHUSETTS GEN HOSP,NEUROL SERV,JOSEPH P KENNEDY JR MEM LABS,BOSTON,MA 02114

[2] MASSACHUSETTS GEN HOSP,MED SERV,JOSEPH P KENNEDY JR MEM LABS,BOSTON,MA 02114

[3] HARVARD UNIV,MED SCH,DEPT NEUROL,BOSTON,MA 02115

[4] HARVARD UNIV,MED SCH,DEPT MED,BOSTON,MA 02115

来源：

CLINICA CHIMICA ACTA | 1973年 / 48卷 / 04期

关键词：

D O I：

10.1016/0009-8981(73)90425-7

中图分类号：

R446 [实验室诊断]; R-33 [实验医学、医学实验];

学科分类号：

1001 ;

摘要：

引用

页码：437 / 439

页数：3

共 13 条

[1]

AMPOLA MG, PERSONAL COMMUNICATI

[2] ISOVALERIC ACIDEMIA - CLINICAL FEATURES OF A NEW GENETIC DEFECT OF LEUCINE METABOLISM [J].

BUDD, MA ;

TANAKA, K ;

HOLMES, LB ;

EFRON, ML ;

CRAWFORD, JD ;

ISSELBAC.KJ .

NEW ENGLAND JOURNAL OF MEDICINE, 1967, 277 (07) :321-&

[3] ENZYME DEFECT IN SKIN FIBROBLASTS IN INTERMITTENT BRANCHED-CHAIN KETONURIA AND IN MAPLE SYRUP URINE DISEASE [J].

DANCIS, J ;

HUTZLER, J ;

COX, RP .

BIOCHEMICAL MEDICINE, 1969, 2 (05) :407-&

[4]

DREYFUS PM, 1964, MICROCHIM ACTA WIEN, V1, P150

[5] INTRAUTERINE DIAGNOSIS - COMPARATIVE ENZYMOLOGY OF CELLS CULTIVATED FROM MATERNAL SKIN, FETAL SKIN, AND AMINIOTIC FLUID CELLS [J].

KABACK, MM ;

LEONARD, CO ;

PARMLEY, TH .

PEDIATRIC RESEARCH, 1971, 5 (08) :366-&

[6]

MEISTER A, 1965, BIOCHEMISTRY AMINO A, V2

[7]

SEEGMILLER JE, 1967, J MENT DEFIC RES, V11, P288

[8] ORNITHINE-KETOACID TRANSAMINASE ACTIVITY IN HUMAN SKIN AND AMNIOTIC FLUID CELL CULTURE [J].

SHIH, VE ;

SCHULMAN, JD .

CLINICA CHIMICA ACTA, 1970, 27 (01) :73-+

[9]

SHIH VE, 1970, LANCET, V2, P45

[10] ISOVALERIC ACIDEMIA - A NEW GENETIC DEFECT OF LEUCINE METABOLISM [J].

TANAKA, K ;

BUDD, MA ;

EFRON, ML ;

ISSELBACHER, KJ .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1966, 56 (01) :236-+

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