GENETIC AND PHENOTYPIC HETEROGENEITY IN DISORDERS OF PEROXISOME BIOGENESIS - A COMPLEMENTATION STUDY INVOLVING CELL-LINES FROM 19 PATIENTS

被引：89

作者：

ROSCHER, AA

HOEFLER, S

HOEFLER, G

PASCHKE, E

PALTAUF, F

MOSER, A

MOSER, H

机构：

[1] JOHNS HOPKINS UNIV,KENNEDY INST,BALTIMORE,MD 21205

[2] JOHNS HOPKINS UNIV,DEPT NEUROL,BALTIMORE,MD 21205

[3] JOHNS HOPKINS UNIV,DEPT PEDIAT,BALTIMORE,MD 21205

[4] UNIV MUNICH,DEPT CLIN CHEM,PEDIAT CLIN,D-8000 MUNICH 2,FED REP GER

[5] GRAZ UNIV,PEDIAT CLIN,A-8036 GRAZ,AUSTRIA

[6] GRAZ TECH UNIV,DEPT BIOCHEM,A-8010 GRAZ,AUSTRIA

来源：

PEDIATRIC RESEARCH | 1989年 / 26卷 / 01期

关键词：

D O I：

10.1203/00006450-198907000-00019

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

引用

页码：67 / 72

页数：6

共 35 条

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[3] KINETICS OF THE ASSEMBLY OF PEROXISOMES AFTER FUSION OF COMPLEMENTARY CELL-LINES FROM PATIENTS WITH THE CEREBRO-HEPATO-RENAL (ZELLWEGER) SYNDROME AND RELATED DISORDERS
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WIEMER, EAC
WESTERVELD, A
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[J]. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1988, 152 (03) : 1083 - 1089
[4] BRUL S, 1988, J CLIN INVEST, V81, P1702
[5] DYSMORPHIC SYNDROME WITH PHYTANIC ACID OXIDASE DEFICIENCY, ABNORMAL VERY LONG-CHAIN FATTY-ACIDS, AND PIPECOLIC ACIDEMIA - STUDIES IN 4 CHILDREN
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KENNAWAY, NG
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[J]. JOURNAL OF PEDIATRICS, 1986, 108 (01) : 33 - 39
[6] EK K, 1986, J PEDIATR, V108, P19
[7] GATFIELD PD, 1968, CAN MED ASSOC J, V99, P1215
[8] PEROXISOMAL AND MITOCHONDRIAL DEFECTS IN CEREBRO-HEPATO-RENAL SYNDROME
GOLDFISCHER, S
MOORE, CL
JOHNSON, AB
SPIRO, AJ
VALSAMIS, MP
WISNIEWSKI, HK
RITCH, RH
NORTON, WT
RAPIN, I
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[J]. SCIENCE, 1973, 182 (4107) : 62 - 64
[9] GENETIC COMPLEMENTATION IN HETEROKARYONS OF HUMAN FIBROBLASTS DEFECTIVE IN COBALAMIN METABOLISM
GRAVEL, RA
MAHONEY, MJ
RUDDLE, FH
ROSENBERG, LE
[J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1975, 72 (08) : 3181 - 3185
[10] HERMETTER A, 1983, ETHER LIPIDS BIOCH B, P389

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