MUSCLE CYTOCHROME-C-OXIDASE DEFICIENCY IN 2 ITALIAN PATIENTS WITH ETHYLMALONIC ACIDURIA AND PECULIAR CLINICAL PHENOTYPE

被引：24
作者：
GARAVAGLIA, B
COLAMARIA, V
CARRARA, F
TONIN, P
RIMOLDI, M
UZIEL, G
机构：
[1] IST NEUROCHIRURG C BESTA,DIV NEUROPSICHIATRIA INFANTILE,I-20133 MILAN,ITALY
[2] OSPED BORGO ROMA,VERONA,ITALY
来源：
JOURNAL OF INHERITED METABOLIC DISEASE | 1994年 / 17卷 / 03期
关键词：
D O I：
10.1007/BF00711813
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
[No abstract available]
引用
收藏
页码：301 / 303
页数：3
相关论文
共 50 条
[31]   CHILDHOOD ENCEPHALOMYOPATHY WITH CYTOCHROME-C-OXIDASE DEFICIENCY, ATAXIA, MUSCLE WASTING, AND MENTAL IMPAIRMENT [J].
ANGELINI, C ;
BRESOLIN, N ;
PEGOLO, G ;
BET, L ;
RINALDO, P ;
TREVISAN, C ;
VERGANI, L .
NEUROLOGY, 1986, 36 (08) :1048-1052
[32]   FATAL LIPID STORAGE MYOPATHY WITH DEFICIENCY OF CYTOCHROME-C-OXIDASE AND CARNITINE - A CONTRIBUTION TO THE COMBINED CYTOCHEMICAL-FINESTRUCTURAL IDENTIFICATION OF CYTOCHROME-C-OXIDASE IN LONGTERM FROZEN MUSCLE [J].
MULLERHOCKER, J ;
PONGRATZ, D ;
DEUFEL, T ;
TRIJBELS, JMF ;
ENDRES, W ;
HUBNER, G .
VIRCHOWS ARCHIV A-PATHOLOGICAL ANATOMY AND HISTOPATHOLOGY, 1983, 399 (01) :11-23
[33]   TUBULAR AGGREGATES AND PARTIAL CYTOCHROME-C-OXIDASE DEFICIENCY IN SKELETAL-MUSCLE OF PATIENTS WITH AIDS TREATED WITH ZIDOVUDINE [J].
CHARIOT, P ;
BENBRIK, E ;
SCHAEFFER, A ;
GHERARDI, R .
ACTA NEUROPATHOLOGICA, 1993, 85 (04) :431-436
[34]   Effect of nickel deficiency on the activity of cytochrome-c-oxidase in rats [J].
Stangl, GI ;
Wild, S ;
Kirchgessner, M .
JOURNAL OF ANIMAL PHYSIOLOGY AND ANIMAL NUTRITION, 1996, 75 (4-5) :226-230
[35]   RELEVANCE OF CYTOCHROME-C-OXIDASE DEFICIENCY TO PATHOGENESIS OF ACUTE PORPHYRIA [J].
GOLDBERG, A ;
DOYLE, D ;
LAIWAH, ACY ;
MOORE, MR ;
MCCOLL, KEL .
QUARTERLY JOURNAL OF MEDICINE, 1985, 57 (223) :799-799
[36]   INTEREST OF SKIN FIBROBLASTS FOR THE DIAGNOSIS OF CYTOCHROME-C-OXIDASE DEFICIENCY [J].
COLLOMBET, JM ;
ZABOT, MT ;
VIDAILHET, M ;
MAIRE, I ;
ECHENNE, B ;
FLOQUET, J ;
DUMOULIN, R ;
RIMOLDI, M ;
MATHIEU, M ;
MOUSSON, B .
PEDIATRIE, 1993, 48 (04) :287-295
[37]   CHRONIC-PANCREATITIS IN MUSCULAR CYTOCHROME-C-OXIDASE DEFICIENCY [J].
KATO, S ;
MIYABAYASHI, S ;
OHI, R ;
NAKAGAWA, H ;
ABE, JI ;
YAMAMOTO, K ;
WATANABE, S ;
TADA, K .
JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION, 1990, 11 (04) :549-552
[38]   MYOPATHY AND FATAL CARDIOPATHY DUE TO CYTOCHROME-C-OXIDASE DEFICIENCY [J].
ZEVIANI, M ;
VANDYKE, DH ;
SERVIDEI, S ;
BAUSERMAN, SC ;
BONILLA, E ;
BEAUMONT, ET ;
SHARDA, J ;
VANDERLAAN, K ;
DIMAURO, S .
ARCHIVES OF NEUROLOGY, 1986, 43 (11) :1198-1202
[39]   CYTOCHROME-C-OXIDASE DEFICIENCY WITH ACUTE ONSET AND RAPID RECOVERY [J].
NOZAKI, H ;
HAMANO, S ;
UEOKA, Y ;
HORITA, H ;
KOGA, Y ;
NONAKA, I .
PEDIATRIC NEUROLOGY, 1990, 6 (05) :330-332
[40]   FATAL INFANTILE CYTOCHROME-C-OXIDASE DEFICIENCY IN LOWES SYNDROME [J].
PEGOLO, G ;
LAVERDA, AM ;
BRESOLIN, N ;
BET, L ;
BATTILANA, M ;
ANGELINI, C .
MUSCLE & NERVE, 1986, 9 (05) :182-182
12345