SCREENING, DIAGNOSIS AND INVESTIGATION OF HEREDITARY AMINOACIDOPATHIES

被引：26

作者：

SCRIVER, CR

CLOW, CL

LAMM, P

机构：

来源：

CLINICAL BIOCHEMISTRY | 1973年 / 6卷 / 03期

关键词：

D O I：

10.1016/S0009-9120(73)80025-6

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：142 / 188

页数：47

共 120 条

[1]

ADRIAENSSENS K., 1967, CLIN CHIM ACTA, V15, P362, DOI 10.1016/0009-8981(67)90080-0

[2]

APPLEGARTH DA, 1970, BC MED J, V12, P29

[3] ACCELERATED CHROMATOGRAPHY OF AMINO ACIDS ASSOCIATED WITH PHENYLKETONURIA LEUCINOSIS (MAPLE SYRUP URINE DISEASE) AND OTHER INBORN ERRORS OF METABOLISM [J].

BENSON, JV ;

CORMICK, J ;

PATTERSON, JA .

ANALYTICAL BIOCHEMISTRY, 1967, 18 (03) :481-+

[4]

BERRIDGE BJ, 1971, AM J CLIN NUTR, V24, P934

[5]

BERRY HK, 1968, CLIN CHEM, V14, P1033

[6]

BlocK R. J., 1958, MANUAL PAPER CHROMAT

[7] SET OF SIMPLE SIDE-ROOM URINE TESTS FOR DETECTION OF INBORN ERRORS OF METABOLISM [J].

BUIST, NRM .

BRITISH MEDICAL JOURNAL, 1968, 2 (5607) :745-&

[8] HOMOCYSTINURIA - A NEW INBORN ERROR OF METABOLISM ASSOCIATED WITH MENTAL DEFICIENCY [J].

CARSON, NAJ ;

DENT, CE ;

FIELD, CMB ;

NEILL, DW ;

WESTALL, RG ;

CUSWORTH, DC .

ARCHIVES OF DISEASE IN CHILDHOOD, 1963, 38 (201) :425-+

[9] RESULTS OF MASS SCREENING FOR HYPERAMINOACIDEMIAS IN NEWBORN INFANT [J].

CLOW, C ;

SCRIVER, CR ;

DAVIES, E .

AMERICAN JOURNAL OF DISEASES OF CHILDREN, 1969, 117 (01) :48-&

[10] MANAGEMENT OF HEREDITARY METABOLIC DISEASE - ROLE OF ALLIED HEALTH PERSONNEL [J].

CLOW, CL ;

READE, TM ;

SCRIVER, CR .

NEW ENGLAND JOURNAL OF MEDICINE, 1971, 284 (23) :1292-&

← 1 2 3 4 5 6 7 8 9 10 →