Fatal neonatal liver failure and depletion of mitochondrial DNA in three children of one family

被引：8

作者：

Bakker, HD

VandenBogert, C

Scholte, HR

Zwart, R

Wijburg, FA

Spelbrink, JN

机构：

[1] UNIV AMSTERDAM,ACAD MED CTR,DEPT NEUROL,1105 AZ AMSTERDAM,NETHERLANDS

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

来源：

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

关键词：

D O I：

10.1007/BF01799406

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：112 / 114

页数：3

共 9 条

[1] MITOCHONDRIAL ENCEPHALOMYOPATHIES [J].

DIMAURO, S ;

MORAES, CT .

ARCHIVES OF NEUROLOGY, 1993, 50 (11) :1197-1208

[2]

MAASWINKELMOOY PD, 1995, 33 ANN S SSIEM TOL, P173

[3] FATAL INFANTILE LIVER-FAILURE ASSOCIATED WITH MITOCHONDRIAL-DNA DEPLETION [J].

MAZZIOTTA, MRM ;

RICCI, E ;

BERTINI, E ;

VICI, CD ;

SERVIDEI, S ;

BURLINA, AB ;

SABETTA, G ;

BARTULI, A ;

MANFREDI, G ;

SILVESTRI, G ;

MORAES, CT ;

DIMAURO, S .

JOURNAL OF PEDIATRICS, 1992, 121 (06) :896-901

[4]

MORAES CT, 1991, AM J HUM GENET, V48, P492

[5]

MORAES CT, 1993, INT PEDIAT, V8, P40

[6] ALTERED KINETICS OF CYTOCHROME-C-OXIDASE IN A PATIENT WITH SEVERE MITOCHONDRIAL ENCEPHALOMYOPATHY [J].

NIJTMANS, LGJ ;

BARTH, PG ;

LINCKE, CR ;

VANGALEN, MJM ;

ZWART, R ;

KLEMENT, P ;

BOLHUIS, PA ;

RUITENBEEK, W ;

WANDERS, RJA ;

VANDENBOGERT, C .

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE, 1995, 1270 (2-3) :193-201

[7] THE PRE-MESSENGER-RNA OF NUCLEAR RESPIRATORY FACTOR-1, A REGULATOR OF MITOCHONDRIAL BIOGENESIS, IS ALTERNATIVELY SPLICED IN HUMAN TISSUES AND CELL-LINES [J].

SPELBRINK, JN ;

VANDENBOGERT, C .

HUMAN MOLECULAR GENETICS, 1995, 4 (09) :1591-1596

[8] REGULATION OF THE EXPRESSION OF MITOCHONDRIAL PROTEINS - RELATIONSHIP BETWEEN MTDNA COPY NUMBER AND CYTOCHROME-C-OXIDASE ACTIVITY IN HUMAN-CELLS AND TISSUES [J].

VANDENBOGERT, C ;

DEVRIES, H ;

HOLTROP, M ;

MUUS, P ;

DEKKER, HL ;

VANGALEN, MJM ;

BOLHUIS, PA ;

TAANMAN, JW .

BIOCHIMICA ET BIOPHYSICA ACTA, 1993, 1144 (02) :177-183

[9] NRF-1, AN ACTIVATOR INVOLVED IN NUCLEAR-MITOCHONDRIAL INTERACTIONS, UTILIZES A NEW DNA-BINDING DOMAIN CONSERVED IN A FAMILY OF DEVELOPMENTAL REGULATORS [J].

VIRBASIUS, CMA ;

VIRBASIUS, JV ;

SCARPULLA, RC .

GENES & DEVELOPMENT, 1993, 7 (12A) :2431-2445

← 1 →