HOMOCYSTINURIA - EVIDENCE FOR 3 DISTINCT CLASSES OF CYSTATHIONINE BETA-SYNTHASE MUTANTS IN CULTURED FIBROBLASTS

被引：92

作者：

FOWLER, B

KRAUS, J

PACKMAN, S

ROSENBERG, LE

机构：

来源：

JOURNAL OF CLINICAL INVESTIGATION | 1978年 / 61卷 / 03期

关键词：

D O I：

10.1172/JCI108976

中图分类号：

R-3 [医学研究方法]; R3 [基础医学];

学科分类号：

1001 ;

摘要：

引用

页码：645 / 653

页数：9

共 27 条

[1] SUCCESSFUL TREATMENT OF HOMOCYSTINURIA WITH PYRIDOXINE [J].

BARBER, GW ;

SPAETH, GL .

JOURNAL OF PEDIATRICS, 1969, 75 (03) :463-&

[2] COMPARISON OF PROTEOLYTIC SUSCEPTIBILITY OF SEVERAL RAT LIVER ENZYMES [J].

BOND, JS .

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1971, 43 (02) :333-&

[3] METABOLIC ABNORMALITIES DETECTED IN A SURVEY OF MENTALLY BACKWARD INDIVIDUALS IN NORTHERN IRELAND [J].

CARSON, NAJ ;

NEILL, DW .

ARCHIVES OF DISEASE IN CHILDHOOD, 1962, 37 (195) :505-&

[4] INACTIVATION OF CYSTATHIONASE AND OF CYSTEINE SULFINIC ACID DECARBOXYLASE BY PROTEOLYTIC ENZYMES - EFFECT OF PYRIDOXAL PHOSPHATE [J].

CHATAGNER, F ;

GICQUEL, Y ;

PORTEMER, C ;

TIXIER, M .

EXPERIENTIA, 1970, 26 (06) :602-+

[5]

EFREMOVA L L, 1974, Molecular Biology (English Translation of Molekulyarnaya Biologiya (Moscow)), V8, P123

[6]

GAULL G E, 1969, Neuropaediatrie, V1, P199, DOI 10.1055/s-0028-1091874

[7] IDENTIFICATION OF HOMOCYSTINE IN URINE [J].

GERRITSEN, T ;

VAUGHN, JG ;

WAISMAN, HA .

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1962, 9 (06) :493-&

[8]

GOLDSTEIN JL, 1972, J CLIN INVEST, V51, P1034, DOI 10.1172/JCI106863

[9]

HOLTEN D, 1967, J BIOL CHEM, V242, P1053

[10] STABILITY OF SOME PYRIDOXAL PHOSPHATE-DEPENDENT ENZYMES IN VITAMIN-B-6 DEFICIENT RATS [J].

HUNTER, JE ;

HARPER, AE .

JOURNAL OF NUTRITION, 1976, 106 (05) :653-664

← 1 2 3 →