A BIFUNCTIONAL PROTEIN WITH DEFICIENT ENZYMATIC-ACTIVITY - IDENTIFICATION OF A NEW PEROXISOMAL DISORDER USING NOVEL METHODS TO MEASURE THE PEROXISOMAL BETA-OXIDATION ENZYME-ACTIVITIES

被引：29

作者：

WANDERS, RJA

VANROERMUND, CWT

SCHELEN, A

SCHUTGENS, RBH

TAGER, JM

STEPHENSON, JBP

CLAYTON, PT

机构：

[1] UNIV AMSTERDAM,EC SLATER INST BIOCHEM RES,1105 AZ AMSTERDAM,NETHERLANDS

[2] ROYAL HOSP SICK CHILDREN,GLASGOW G3 8SJ,SCOTLAND

[3] INST CHILD HLTH,LONDON WC1N 1EH,ENGLAND

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 1990年 / 13卷 / 03期

关键词：

D O I：

10.1007/BF01799399

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

[No abstract available]

引用

页码：375 / 379

页数：5

共 5 条

[1] BILE-ACID ANALYSES IN PSEUDO-ZELLWEGER SYNDROME - CLUES TO THE DEFECT IN PEROXISOMAL BETA-OXIDATION [J].

CLAYTON, PT ;

LAKE, BD ;

HJELM, M ;

STEPHENSON, JBP ;

BESLEY, GTN ;

WANDERS, RJA ;

SCHRAM, AW ;

TAGER, JM ;

SCHUTGENS, RBH ;

LAWSON, AM .

JOURNAL OF INHERITED METABOLIC DISEASE, 1988, 11 :165-168

[2] NEONATAL SEIZURES AND RETARDATION IN A GIRL WITH BIOCHEMICAL FEATURES OF X-LINKED ADRENOLEUKODYSTROPHY - A POSSIBLE NEW PEROXISOMAL DISEASE ENTITY [J].

NAIDU, S ;

HOEFLER, G ;

WATKINS, PA ;

CHEN, WW ;

MOSER, AB ;

HOEFLER, S ;

RANCE, NE ;

POWERS, JM ;

BEARD, M ;

GREEN, WR ;

HASHIMOTO, T ;

MOSER, HW .

NEUROLOGY, 1988, 38 (07) :1100-1107

[3] THE INBORN-ERRORS OF PEROXISOMAL BETA-OXIDATION - A REVIEW [J].

WANDERS, RJA ;

VANROERMUND, CWT ;

SCHUTGENS, RBH ;

BARTH, PG ;

HEYMANS, HSA ;

VANDENBOSCH, H ;

TAGER, JM .

JOURNAL OF INHERITED METABOLIC DISEASE, 1990, 13 (01) :4-36

[4]

WANDERS RJA, 1990, IN PRESS CLIN BIOCH

[5] PEROXISOMAL BIFUNCTIONAL ENZYME DEFICIENCY [J].

WATKINS, PA ;

CHEN, WW ;

HARRIS, CJ ;

HOEFLER, G ;

HOEFLER, S ;

BLAKE, DC ;

BALFE, A ;

KELLEY, RI ;

MOSER, AB ;

BEARD, ME ;

MOSER, HW .

JOURNAL OF CLINICAL INVESTIGATION, 1989, 83 (03) :771-777

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