HEPATIC-FAILURE IN DISORDERS OF OXIDATIVE-PHOSPHORYLATION WITH NEONATAL ONSET

被引：44

作者：

CORMIER, V

RUSTIN, P

BONNEFONT, JP

RAMBAUD, C

VASSAULT, A

RABIER, D

PARVY, P

COUDERC, S

PARROTROULAUD, F

CARRE, M

RISSE, JC

CAHUZAC, C

SAUDUBRAY, JM

ROTIG, A

HUBERT, P

MUNNICH, A ^{[1
]}

机构：

[1] HOP NECKER ENFANTS MALAD, DEPT PEDIAT,INSERM,U12, UNITE RECH HANDICAPS GENET ENFANT,149 RUE SEVRES, F-75743 PARIS 15, FRANCE

[2] HOP NECKER ENFANTS MALAD, BIOCHIM LAB, F-75743 PARIS 15, FRANCE

[3] CTR HOSP BORDEAUX, BORDEAUX, FRANCE

[4] CTR HOSP SENS, SENS, FRANCE

[5] CTR HOSP CREIL, CREIL, FRANCE

来源：

JOURNAL OF PEDIATRICS | 1991年 / 119卷 / 06期

关键词：

D O I：

10.1016/S0022-3476(05)83054-9

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

[No abstract available]

引用

页码：951 / 954

页数：4

共 9 条

[1] MITOCHONDRIAL CYTOCHROME DEFICIENCY PRESENTING AS A MYOPATHY WITH HYPOTONIA, EXTERNAL OPHTHALMOPLEGIA, AND LACTIC-ACIDOSIS IN AN INFANT AND AS FATAL HEPATOPATHY IN A 2ND COUSIN [J].

BOUSTANY, RN ;

APRILLE, JR ;

HALPERIN, J ;

LEVY, H ;

DELONG, GR .

ANNALS OF NEUROLOGY, 1983, 14 (04) :462-470

[2] THE MEASUREMENT OF THE ROTENONE-SENSITIVE NADH CYTOCHROME-C REDUCTASE-ACTIVITY IN MITOCHONDRIA ISOLATED FROM MINUTE AMOUNT OF HUMAN SKELETAL-MUSCLE [J].

CHRETIEN, D ;

BOURGERON, T ;

ROTIG, A ;

MUNNICH, A ;

RUSTIN, P .

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1990, 173 (01) :26-33

[3] WIDESPREAD MULTITISSUE DELETIONS OF THE MITOCHONDRIAL GENOME IN THE PEARSON MARROW-PANCREAS SYNDROME [J].

CORMIER, V ;

ROTIG, A ;

QUARTINO, AR ;

FORNI, GL ;

CERONE, R ;

MAIER, M ;

SAUDUBRAY, JM ;

MUNNICH, A .

JOURNAL OF PEDIATRICS, 1990, 117 (04) :599-602

[4] DEFICIENCY OF THE REDUCED NICOTINAMIDE ADENINE-DINUCLEOTIDE DEHYDROGENASE COMPONENT OF COMPLEX-I OF MITOCHONDRIAL ELECTRON-TRANSPORT - FATAL INFANTILE LACTIC-ACIDOSIS AND HYPERMETABOLISM WITH SKELETAL-CARDIAC MYOPATHY AND ENCEPHALOPATH [J].

HOPPEL, CL ;

KERR, DS ;

DAHMS, B ;

ROESSMANN, U .

JOURNAL OF CLINICAL INVESTIGATION, 1987, 80 (01) :71-77

[5] PEARSON MARROW PANCREAS SYNDROME - A MULTISYSTEM MITOCHONDRIAL DISORDER IN INFANCY [J].

ROTIG, A ;

CORMIER, V ;

BLANCHE, S ;

BONNEFONT, JP ;

LEDEIST, F ;

ROMERO, N ;

SCHMITZ, J ;

RUSTIN, P ;

FISCHER, A ;

SAUDUBRAY, JM ;

MUNNICH, A .

JOURNAL OF CLINICAL INVESTIGATION, 1990, 86 (05) :1601-1608

[6] MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDEMIA, FANCONI-DETONI-DEBRE SYNDROME AND A DISTURBED SUCCINATE - CYTOCHROME-C OXIDOREDUCTASE ACTIVITY [J].

SPERL, W ;

RUITENBEEK, W ;

TRIJBELS, JMF ;

SENGERS, RCA ;

STADHOUDERS, AM ;

GUGGENBICHLER, JP .

EUROPEAN JOURNAL OF PEDIATRICS, 1988, 147 (04) :418-421

[7]

TZAGOLOFF A, 1983, MITOCHONDRIA, P342

[8]

Vassault A., 1991, TECHNIQUES DIAGNOSTI, P285

[9] MITOCHONDRIAL-DNA MUTATIONS AND NEUROMUSCULAR DISEASE [J].

WALLACE, DC .

TRENDS IN GENETICS, 1989, 5 (01) :9-13

← 1 →