A SIBSHIP WITH A MILD VARIANT OF ZELLWEGER SYNDROME

被引:16
作者
BARTH, PG
SCHUTGENS, RBH
WANDERS, RJA
HEYMANS, HSA
MOSER, AE
MOSER, HW
BLEEKERWAGEMAKERS, EM
JANSONIUSSCHULTHEISS, K
DERIX, M
NELCK, GF
机构
[1] WILHELMINA HOSP,DEPT PAEDIAT,ASSEN,NETHERLANDS
[2] KENNEDY INST HANDICAPPED CHILDRENS,BALTIMORE,MD
[3] NETHERLANDS OPHTHALM RES INST,AMSTERDAM,NETHERLANDS
[4] UNIV AMSTERDAM HOSP,DEPT PAEDIAT,AMSTERDAM,NETHERLANDS
[5] UNIV AMSTERDAM HOSP,DEPT OTORHINOLARYNGOL,AMSTERDAM,NETHERLANDS
[6] UNIV AMSTERDAM HOSP,DEPT NEUROL,AMSTERDAM,NETHERLANDS
关键词
D O I
10.1007/BF01800071
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:253 / 259
页数:7
相关论文
共 22 条
[1]   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
[2]  
ELDJARN L, 1966, LANCET, V1, P691
[3]   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
[4]   GLYCEROLIPID BIOSYNTHESIS IN PEROXISOMES VIA THE ACYL DIHYDROXYACETONE PHOSPHATE-PATHWAY [J].
HAJRA, AK ;
BISHOP, JE .
ANNALS OF THE NEW YORK ACADEMY OF SCIENCES, 1982, 386 (MAY) :170-182
[5]   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
[6]   DEFICIENCY OF PLASMALOGENS IN THE CEREBRO-HEPATO-RENAL (ZELLWEGER) SYNDROME [J].
HEYMANS, HSA ;
VANDERBOSCH, H ;
SCHUTGENS, RBH ;
TEGELAERS, WHH ;
WALTHER, JU ;
MULLERHOCKER, J ;
BORST, P .
EUROPEAN JOURNAL OF PEDIATRICS, 1984, 142 (01) :10-15
[7]  
KASE F, 1983, J LIPID RES, V24, P1560
[8]   NEONATAL ADRENOLEUKODYSTROPHY - NEW CASES, BIOCHEMICAL-STUDIES, AND DIFFERENTIATION FROM ZELLWEGER AND RELATED PEROXISOMAL POLYDYSTROPHY SYNDROMES [J].
KELLEY, RI ;
DATTA, NS ;
DOBYNS, WB ;
HAJRA, AK ;
MOSER, AB ;
NOETZEL, MJ ;
ZACKAI, EH ;
MOSER, HW .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1986, 23 (04) :869-901
[9]   THE CEREBROHEPATORENAL (ZELLWEGER) SYNDROME - INCREASED LEVELS AND IMPAIRED DEGRADATION OF VERY-LONG-CHAIN FATTY-ACIDS AND THEIR USE IN PRENATAL-DIAGNOSIS [J].
MOSER, AE ;
SINGH, I ;
BROWN, FR ;
SOLISH, GI ;
KELLEY, RI ;
BENKE, PJ ;
MOSER, HW .
NEW ENGLAND JOURNAL OF MEDICINE, 1984, 310 (18) :1141-1146
[10]   ADRENOLEUKODYSTROPHY - SURVEY OF 303 CASES - BIOCHEMISTRY, DIAGNOSIS, AND THERAPY [J].
MOSER, HW ;
MOSER, AE ;
SINGH, I ;
ONEILL, BP .
ANNALS OF NEUROLOGY, 1984, 16 (06) :628-641