RAPID DIAGNOSIS OF ZELLWEGER SYNDROME AND INFANTILE REFSUMS DISEASE BY FAST-ATOM-BOMBARDMENT MASS-SPECTROMETRY OF URINE BILE-SALTS

被引：61

作者：

LAWSON, AM

MADIGAN, MJ

SHORTLAND, D

CLAYTON, PT

机构：

[1] QUEENS UNIV,MED CTR,DEPT PAEDIAT,NOTTINGHAM,ENGLAND

[2] INST CHILD HLTH,DEPT CHILD HLTH,LONDON WC1N 1EH,ENGLAND

来源：

CLINICA CHIMICA ACTA | 1986年 / 161卷 / 02期

关键词：

D O I：

10.1016/0009-8981(86)90215-9

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：221 / 231

页数：11

共 19 条

[1]

ALME B, 1977, J LIPID RES, V18, P339

[2] SEPARATION AND COMPUTERIZED GAS CHROMATOGRAPHY MASS SPECTROMETRY OF UNCONJUGATED NEUTRAL STEROIDS IN PLASMA [J].

AXELSON, M ;

SJOVALL, J .

JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY, 1974, 5 (08) :733-738

[3] PHENOBARBITAL-INDUCED ALTERATIONS OF BILE-ACID METABOLISM IN CASES OF INTRA-HEPATIC CHOLESTASIS [J].

BACK, P .

KLINISCHE WOCHENSCHRIFT, 1982, 60 (11) :541-549

[4]

BREMMELGAARD A, 1980, J LIPID RES, V21, P1072

[5] THE BILE-ACID COMPOSITION OF GASTRIC CONTENTS FROM NEONATES WITH HIGH INTESTINAL-OBSTRUCTION [J].

CLAYTON, PT ;

MULLER, DPR ;

LAWSON, AM .

BIOCHEMICAL JOURNAL, 1982, 206 (03) :489-498

[6]

CLAYTON PT, 1987, EUR J PEDIATR

[7] FAST ATOM BOMBARDMENT MASS-SPECTROMETRY IN THE DIAGNOSIS OF CEREBROTENDINOUS XANTHOMATOSIS [J].

EGESTAD, B ;

PETTERSSON, P ;

SKREDE, S ;

SJOVALL, J .

SCANDINAVIAN JOURNAL OF CLINICAL & LABORATORY INVESTIGATION, 1985, 45 (05) :443-446

[8] BILE-ACID ABNORMALITIES AND THE DIAGNOSIS OF CEREBRO-HEPATO-RENAL SYNDROME (ZELLWEGER SYNDROME) [J].

EYSSEN, H ;

EGGERMONT, E ;

VANELDERE, J ;

JAEKEN, J ;

PARMENTIER, G ;

JANSSEN, G .

ACTA PAEDIATRICA SCANDINAVICA, 1985, 74 (04) :539-544

[9] DEFECTS OF BILE-ACID SYNTHESIS IN ZELLWEGER SYNDROME [J].

HANSON, RF ;

SZCZEPANIKVANLEEUWEN, P ;

WILLIAMS, GC ;

GRABOWSKI, G ;

SHARP, HL .

SCIENCE, 1979, 203 (4385) :1107-1108

[10]

JANSSEN G, 1982, J LIPID RES, V23, P456

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