HETEROGENEOUS TISSUE EXPRESSION OF ENZYME DEFECTS IN MITOCHONDRIAL MYOPATHIES

被引：14

作者：

SPERL, W

RUITENBEEK, W

TRIJBELS, JMF

KORENKE, GC

SENGERS, RCA

机构：

[1] Department of Pediatrics, University Hospital of Nijmegen, Nijmegen, 6500 HB

来源：

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

关键词：

D O I：

10.1007/BF01799395

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：359 / 362

页数：4

共 8 条

[1] CEREBRAL LACTIC-ACIDOSIS - DEFECTS IN PYRUVATE METABOLISM WITH PROFOUND BRAIN-DAMAGE AND MINIMAL SYSTEMIC ACIDOSIS
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HAAN, EA
KIRBY, DM
SCHOLEM, RD
WRAITH, JE
ROGERS, JG
DANKS, DM
[J]. EUROPEAN JOURNAL OF PEDIATRICS, 1988, 147 (01) : 10 - 14
[2] COMPLEXITY AND TISSUE-SPECIFICITY OF THE MITOCHONDRIAL RESPIRATORY-CHAIN
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HALPHEN, DG
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YANAMURA, W
[J]. JOURNAL OF BIOENERGETICS AND BIOMEMBRANES, 1988, 20 (03) : 291 - 311
[3] A MITOCHONDRIAL ENCEPHALOMYOPATHY - THE 1ST CASE WITH AN ESTABLISHED DEFECT AT THE LEVEL OF COENZYME-Q
FISCHER, JC
RUITENBEEK, W
GABREELS, FJM
JANSSEN, AJM
RENIER, WO
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STADHOUDERS, AM
TERLAAK, HJ
TRIJBELS, JMF
VEERKAMP, JH
[J]. EUROPEAN JOURNAL OF PEDIATRICS, 1986, 144 (05) : 441 - 444
[4] A DEFICIENCY OF BOTH SUBUNITS OF PYRUVATE-DEHYDROGENASE WHICH IS NOT EXPRESSED IN FIBROBLASTS
KERR, DS
BERRY, SA
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HO, L
PATEL, MS
[J]. PEDIATRIC RESEARCH, 1988, 24 (01) : 95 - 100
[5] PROGRESSIVE INFANTILE POLIODYSTROPHY (ALPERS DISEASE) WITH A DEFECT IN CITRIC-ACID CYCLE ACTIVITY IN LIVER AND FIBROBLASTS
PRICK, MJJ
GABREELS, FJM
RENIER, WO
TRIJBELS, JMF
WILLEMS, JL
JANSSEN, AJM
SLOOFF, JL
GEELEN, JAG
DEJAGER, JP
[J]. NEUROPEDIATRICS, 1982, 13 (02) : 108 - 111
[6] ROBINSON BH, 1985, AM J HUM GENET, V37, P938
[7] DEFECTS IN OXIDATIVE-PHOSPHORYLATION - BIOCHEMICAL INVESTIGATIONS IN SKELETAL-MUSCLE AND EXPRESSION OF THE LESION IN OTHER CELLS
SCHOLTE, HR
BUSCH, HFM
LUYTHOUWEN, IEM
VAANDRAGERVERDUIN, MHM
PRZYREMBEL, H
ARTS, WFM
[J]. JOURNAL OF INHERITED METABOLIC DISEASE, 1987, 10 : 81 - 97
[8] SPERL W, 1990, IN PRESS EUR J PEDIA

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