MITOCHONDRIAL ENCEPHALOMYOPATHY WITH ASSOCIATED AMINOACIDOPATHY IN A MALE SIBSHIP

被引：4

作者：

BOOTH, FA

HAWORTH, JC

DILLING, LA

PERRY, TL

GREENBERG, CR

SEARGEANT, LE

PENN, AM

RHEAD, WJ

机构：

[1] HLTH SCI CTR, DEPT CLIN CHEM, WINNIPEG R3E 0W1, MANITOBA, CANADA

[2] UNIV BRITISH COLUMBIA, DEPT PHARMACOL & THERAPEUT, VANCOUVER V6T 1W5, BC, CANADA

[3] UNIV BRITISH COLUMBIA, DEPT NEUROL, VANCOUVER V6T 1W5, BC, CANADA

[4] UNIV IOWA HOSP & CLIN, DEPT PEDIAT, IOWA CITY, IA 52242 USA

来源：

JOURNAL OF PEDIATRICS | 1989年 / 115卷 / 01期

关键词：

D O I：

10.1016/S0022-3476(89)80333-6

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

引用

页码：81 / 88

页数：8

共 41 条

[11] A MITOCHONDRIAL ENCEPHALOMYOPATHY - THE 1ST CASE WITH AN ESTABLISHED DEFECT AT THE LEVEL OF COENZYME-Q [J].

FISCHER, JC ;

RUITENBEEK, W ;

GABREELS, FJM ;

JANSSEN, AJM ;

RENIER, WO ;

SENGERS, RCA ;

STADHOUDERS, AM ;

TERLAAK, HJ ;

TRIJBELS, JMF ;

VEERKAMP, JH .

EUROPEAN JOURNAL OF PEDIATRICS, 1986, 144 (05) :441-444

[12] MYOCLONUS EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS (MITOCHONDRIAL ABNORMALITIES) - DISEASE ENTITY OR A SYNDROME - LIGHT-MICROSCOPIC AND ELECTRON-MICROSCOPIC STUDIES OF 2 CASES AND REVIEW OF LITERATURE [J].

FUKUHARA, N ;

TOKIGUCHI, S ;

SHIRAKAWA, K ;

TSUBAKI, T .

JOURNAL OF THE NEUROLOGICAL SCIENCES, 1980, 47 (01) :117-133

[13]

HALL LD, 1986, 5TH ANN M MONTR, P67

[14] RELATIVE IMPORTANCE OF PYRUVATE-DEHYDROGENASE INTERCONVERSION AND FEEDBACK INHIBITION IN EFFECT OF FATTY-ACIDS ON PYRUVATE OXIDATION BY RAT-HEART MITOCHONDRIA [J].

HANSFORD, RG ;

COHEN, L .

ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS, 1978, 191 (01) :65-81

[15]

HANSFORD RG, 1985, REV PHYSL BIOCH PHAR, V102, P2

[16] STRICTLY MATERNAL INHERITANCE OF RAT MITOCHONDRIAL-DNA [J].

HAYASHI, JI ;

YONEKAWA, H ;

GOTOH, O ;

WATANABE, J ;

TAGASHIRA, Y .

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1978, 83 (03) :1032-1038

[17] A MITOCHONDRIAL ENCEPHALOMYOPATHY - A COMBINED P-31 MAGNETIC-RESONANCE AND BIOCHEMICAL INVESTIGATION [J].

HAYES, DJ ;

HILTONJONES, D ;

ARNOLD, DL ;

GALLOWAY, G ;

STYLES, P ;

DUNCAN, J ;

RADDA, GK .

JOURNAL OF THE NEUROLOGICAL SCIENCES, 1985, 71 (01) :105-118

[18] 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

[19] DEFICIENCY OF SUBUNITS OF COMPLEX-I AND MITOCHONDRIAL ENCEPHALOMYOPATHY [J].

ICHIKI, T ;

TANAKA, M ;

NISHIKIMI, M ;

SUZUKI, H ;

OZAWA, T ;

KOBAYASHI, M ;

WADA, Y .

ANNALS OF NEUROLOGY, 1988, 23 (03) :287-294

[20] RETINITIS PIGMENTOSA, EXTERNAL OPHTHALMOPLEGIA, AND COMPLETE HEART BLOCK - UNUSUAL SYNDROME WITH HISTOLOGIC STUDY IN ONE OF 2 CASES [J].

KEARNS, TP ;

SAYRE, GP .

ARCHIVES OF OPHTHALMOLOGY, 1958, 60 (02) :280-289

← 1 2 3 4 5 →