HOMOCYSTINURIA IN NEW-SOUTH-WALES

被引：24

作者：

WILCKEN, B ^{[1
]}

TURNER, G ^{[1
]}

机构：

[1] PRINCE WALES HOSP,SYDNEY,AUSTRALIA

来源：

ARCHIVES OF DISEASE IN CHILDHOOD | 1978年 / 53卷 / 03期

关键词：

D O I：

10.1136/adc.53.3.242

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

引用

页码：242 / 245

页数：4

共 10 条

[1] 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-&

[2] HOMOCYSTINURIA DUE TO CYSTATHIONINE SYNTHETASE DEFICIENCY - MODE OF INHERITANCE [J].

FINKELSTEIN, JD ;

MUDD, SH ;

LASTER, L ;

IRREVERRE, F .

SCIENCE, 1964, 146 (364) :785-+

[3]

MCKUSICK VA, 1972, HERITABLE DISORDERS, P224

[4] COMBINED VITAMIN RESPONSIVENESS IN HOMOCYSTINURIA [J].

MORROW, G ;

BARNESS, LA .

JOURNAL OF PEDIATRICS, 1972, 81 (05) :946-+

[5] HOMOCYSTINURIA - ENZYMATIC DEFECT [J].

MUDD, SH ;

LASTER, L ;

FINKELSTEIN, JD ;

IRREVERRE, F .

SCIENCE, 1964, 143 (361) :1443-&

[6] STUDIES OF MECHANISM OF PYRIDOXINE-RESPONSIVE HOMOCYSTINURIA [J].

SEASHORE, M ;

ROSENBERG, LE ;

DURANT, JL .

PEDIATRIC RESEARCH, 1972, 6 (03) :187-+

[7] FREQUENCY OF INBORN-ERRORS OF METABOLISM, ESPECIALLY PKU, IN SOME REPRESENTATIVE NEWBORN SCREENING CENTERS AROUND WORLD - COLLABORATIVE STUDY [J].

THALHAMMER, O .

HUMANGENETIK, 1975, 30 (04) :273-286

[8]

WAPPNER RS, 1973, AM J HUM GENET, V25, pA83

[9] HOMOCYSTINURIA - REDUCED FOLATE LEVELS DURING PYRIDOXINE TREATMENT [J].

WILCKEN, B ;

TURNER, B .

ARCHIVES OF DISEASE IN CHILDHOOD, 1973, 48 (01) :58-62

[10] DETECTION OF ABNORMAL SULFUR-CONTAINING AMINO-ACID EXCRETION IN A MASS URINE-SCREENING PROGRAM [J].

WILCKEN, B ;

TURNER, B ;

BROWN, DA .

MEDICAL JOURNAL OF AUSTRALIA, 1972, 1 (23) :1193-&

← 1 →