THE CEREBROHEPATORENAL (ZELLWEGER) SYNDROME - INCREASED LEVELS AND IMPAIRED DEGRADATION OF VERY-LONG-CHAIN FATTY-ACIDS AND THEIR USE IN PRENATAL-DIAGNOSIS

被引：221

作者：

MOSER, AE

SINGH, I

BROWN, FR

SOLISH, GI

KELLEY, RI

BENKE, PJ

MOSER, HW

机构：

[1] JOHNS HOPKINS UNIV,DEPT NEUROL,BALTIMORE,MD 21218

[2] JOHNS HOPKINS UNIV,DEPT PEDIAT,BALTIMORE,MD 21218

[3] LONG ISL COLL HOSP,DEPT OBSTET & GYNECOL,BROOKLYN,NY 11201

[4] SUNY DOWNSTATE MED CTR,BROOKLYN,NY 11203

[5] CHILDRENS HOSP,PHILADELPHIA,PA 19104

[6] MAILMAN CTR CHILD DEV,MIAMI,FL

来源：

NEW ENGLAND JOURNAL OF MEDICINE | 1984年 / 310卷 / 18期

关键词：

D O I：

10.1056/NEJM198405033101802

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：1141 / 1146

页数：6

共 27 条

[1]

AVELDANO MI, 1983, J LIPID RES, V24, P83

[2] NEW FORM OF ADRENOLEUKODYSTROPHY [J].

BENKE, PJ ;

REYES, PF ;

PARKER, JC .

HUMAN GENETICS, 1981, 58 (02) :204-208

[3]

BOWEN P, 1964, B JOHNS HOPKINS HOSP, V114, P402

[4]

BROWN FR, 1982, JOHNS HOPKINS MED J, V151, P344

[5] OCULAR HISTOPATHOLOGIC AND BIOCHEMICAL-STUDIES OF THE CEREBROHEPATORENAL SYNDROME (ZELLWEGERS SYNDROME) AND ITS RELATIONSHIP TO NEONATAL ADRENOLEUKODYSTROPHY [J].

COHEN, SMZ ;

BROWN, FR ;

MARTYN, L ;

MOSER, HW ;

CHEN, W ;

KISTENMACHER, M ;

PUNNETT, H ;

GROVER, W ;

DELACRUZ, ZC ;

CHAN, NR ;

GREEN, WR .

AMERICAN JOURNAL OF OPHTHALMOLOGY, 1983, 96 (04) :488-501

[6] CEREBRO-HEPATO-RENAL SYNDROME OF ZELLWEGER - REPORT OF 8 CASES WITH COMMENTS UPON INCIDENCE, LIVER LESION, AND A FAULT IN PIPECOLIC ACID METABOLISM [J].

DANKS, DM ;

TIPPETT, P ;

ADAMS, C ;

CAMPBELL, P .

JOURNAL OF PEDIATRICS, 1975, 86 (03) :382-387

[7] GLOBOID-CELLS, GLIAL NODULES, AND PECULIAR FIBRILLARY CHANGES IN CEREBRO-HEPATO-RENAL SYNDROME OF ZELLWEGER [J].

DELEON, GA ;

GROVER, WD ;

HUFF, DS ;

MORINIGOMESTRE, G ;

PUNNETT, HH ;

KISTENMACHER, ML .

ANNALS OF NEUROLOGY, 1977, 2 (06) :473-484

[8] MECHANISM OF ARREST OF NEURONAL MIGRATION IN ZELLWEGER MALFORMATION - HYPOTHESIS BASED UPON CYTOARCHITECTONIC ANALYSIS [J].

EVRARD, P ;

CAVINESS, VS ;

PRATSVINAS, J ;

LYON, G .

ACTA NEUROPATHOLOGICA, 1978, 41 (02) :109-117

[9]

GILCHRIST KW, 1975, CLIN GENET, V7, P413

[10] PEROXISOMAL AND MITOCHONDRIAL DEFECTS IN CEREBRO-HEPATO-RENAL SYNDROME [J].

GOLDFISCHER, S ;

MOORE, CL ;

JOHNSON, AB ;

SPIRO, AJ ;

VALSAMIS, MP ;

WISNIEWSKI, HK ;

RITCH, RH ;

NORTON, WT ;

RAPIN, I ;

GARTNER, LM .

SCIENCE, 1973, 182 (4107) :62-64

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