X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): Respiratory-chain abnormalities in cultured fibroblasts

被引：86

作者：

Barth, PG

VandenBogert, C

Bolhuis, PA

Scholte, HR

vanGennip, AH

Schutgens, RBH

Ketel, AG

机构：

[1] EMMA CHILDRENS HOSP,ACAD MED CTR,DEPT NEUROL,AMSTERDAM,NETHERLANDS

[2] ERASMUS UNIV ROTTERDAM,DEPT BIOCHEM,3000 DR ROTTERDAM,NETHERLANDS

[3] SPAARNEZIEKENHUIS,DEPT PEDIAT,HAARLEM,NETHERLANDS

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 1996年 / 19卷 / 02期

关键词：

D O I：

10.1007/BF01799418

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：157 / 160

页数：4

共 9 条

[1] BARTH SYNDROME - CLINICAL-FEATURES AND CONFIRMATION OF GENE LOCALIZATION TO DISTAL XQ28
ADES, LC
GEDEON, AK
WILSON, MJ
LATHAM, M
PARTINGTON, MW
MULLEY, JC
NELSON, J
LUI, K
SILLENCE, DO
[J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 1993, 45 (03): : 327 - 334
[2] AN X-LINKED MITOCHONDRIAL DISEASE AFFECTING CARDIAC-MUSCLE, SKELETAL-MUSCLE AND NEUTROPHIL LEUKOCYTES
BARTH, PG
SCHOLTE, HR
BERDEN, JA
VANDERKLEIVANMOORSEL, JM
LUYTHOUWEN, IEM
VANTVEERKORTHOF, ET
VANDERHARTEN, JJ
SOBOTKAPLOJHAR, MA
[J]. JOURNAL OF THE NEUROLOGICAL SCIENCES, 1983, 62 (1-3) : 327 - 355
[3] BOLHUIS PA, 1991, AM J HUM GENET, V48, P481
[4] BARTH SYNDROME - CLINICAL OBSERVATIONS AND GENETIC-LINKAGE STUDIES
CHRISTODOULOU, J
MCINNES, RR
JAY, V
WILSON, G
BECKER, LE
LEHOTAY, DC
PLATT, BA
BRIDGE, PJ
ROBINSON, BH
CLARKE, JTR
[J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 1994, 50 (03): : 255 - 264
[5] PHENOTYPIC HETEROGENEITY IN THE SYNDROMES OF 3-METHYLGLUTACONIC ACIDURIA
GIBSON, KM
SHERWOOD, WG
HOFFMANN, GF
STUMPF, DA
DIANZANI, I
SCHUTGENS, RBH
BARTH, PG
WEISMANN, U
BACHMANN, C
SCHRYNEMACKERSPITANCE, P
VERLOES, A
NARISAWA, K
MINO, M
OHYA, N
KELLEY, RI
[J]. JOURNAL OF PEDIATRICS, 1991, 118 (06) : 885 - 890
[6] GIBSON KM, 1995, PEDIATR NEUROL, V9, P120
[7] X-LINKED DILATED CARDIOMYOPATHY WITH NEUTROPENIA, GROWTH-RETARDATION, AND 3-METHYLGLUTACONIC ACIDURIA
KELLEY, RI
CHEATHAM, JP
CLARK, BJ
NIGRO, MA
POWELL, BR
SHERWOOD, GW
SLADKY, JT
SWISHER, WP
[J]. JOURNAL OF PEDIATRICS, 1991, 119 (05) : 738 - 747
[8] ALTERED KINETICS OF CYTOCHROME-C-OXIDASE IN A PATIENT WITH SEVERE MITOCHONDRIAL ENCEPHALOMYOPATHY
NIJTMANS, LGJ
BARTH, PG
LINCKE, CR
VANGALEN, MJM
ZWART, R
KLEMENT, P
BOLHUIS, PA
RUITENBEEK, W
WANDERS, RJA
VANDENBOGERT, C
[J]. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE, 1995, 1270 (2-3): : 193 - 201
[9] TRICINE SODIUM DODECYL-SULFATE POLYACRYLAMIDE-GEL ELECTROPHORESIS FOR THE SEPARATION OF PROTEINS IN THE RANGE FROM 1-KDA TO 100-KDA
SCHAGGER, H
VONJAGOW, G
[J]. ANALYTICAL BIOCHEMISTRY, 1987, 166 (02) : 368 - 379

← 1 →