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

[11] NEONATAL ADRENOLEUKODYSTROPHY - NEW CASES, BIOCHEMICAL-STUDIES, AND DIFFERENTIATION FROM ZELLWEGER AND RELATED PEROXISOMAL POLYDYSTROPHY SYNDROMES
KELLEY, RI
DATTA, NS
DOBYNS, WB
HAJRA, AK
MOSER, AB
NOETZEL, MJ
ZACKAI, EH
MOSER, HW
[J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 1986, 23 (04): : 869 - 901
[12] THE CEREBROHEPATORENAL SYNDROME OF ZELLWEGER, MORPHOLOGIC AND METABOLIC ASPECTS
KELLEY, RI
[J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 1983, 16 (04): : 503 - 517
[13] PRESENCE OF THE PEROXISOMAL 22-KDA INTEGRAL MEMBRANE-PROTEIN IN THE LIVER OF A PERSON LACKING RECOGNIZABLE PEROXISOMES (ZELLWEGER SYNDROME)
LAZAROW, PB
FUJIKI, Y
SMALL, GM
WATKINS, P
MOSER, H
[J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1986, 83 (23) : 9193 - 9196
[14] BIOGENESIS OF PEROXISOMES
LAZAROW, PB
FUJIKI, Y
[J]. ANNUAL REVIEW OF CELL BIOLOGY, 1985, 1 : 489 - 530
[15] LAZAROW PB, IN PRESS METABOLIC B
[16] LOWRY OH, 1951, J BIOL CHEM, V193, P265
[17] MCKUSICK VA, 1983, METABOLIC BASIS INHE, P751
[18] PEROXISOME TARGETING SIGNAL OF RAT-LIVER ACYL-COENZYME-A OXIDASE RESIDES AT THE CARBOXY TERMINUS
MIYAZAWA, S
OSUMI, T
HASHIMOTO, T
OHNO, K
MIURA, S
FUJIKI, Y
[J]. MOLECULAR AND CELLULAR BIOLOGY, 1989, 9 (01) : 83 - 91
[19] PEROXISOMAL DISORDERS
MOSER, HW
[J]. JOURNAL OF PEDIATRICS, 1986, 108 (01) : 89 - 91
[20] ADRENOLEUKODYSTROPHY - INCREASED PLASMA CONTENT OF SATURATED VERY LONG-CHAIN FATTY-ACIDS
MOSER, HW
MOSER, AB
FRAYER, KK
CHEN, W
SCHULMAN, JD
ONEILL, BP
KISHIMOTO, Y
[J]. NEUROLOGY, 1981, 31 (10) : 1241 - 1249

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