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
  • [1] ENCEPHALOPATHY, PETECHIAE AND ACROCYANOSIS WITH ETHYLMALONIC ACIDURIA ASSOCIATED WITH MUSCLE CYTOCHROME-C-OXIDASE DEFICIENCY - REPLY
    BURLINA, AB
    RINALDO, P
    JOURNAL OF PEDIATRICS, 1994, 125 (05): : 843 - 844
  • [2] ETHYLMALONIC ACIDURIA ASSOCIATED WITH PROGRESSIVE NEUROLOGICAL DISEASE AND PARTIAL CYTOCHROME-C-OXIDASE DEFICIENCY
    LEHNERT, W
    RUITENBEEK, W
    JOURNAL OF INHERITED METABOLIC DISEASE, 1993, 16 (03) : 557 - 559
  • [3] CYTOCHROME-C-OXIDASE DEFICIENCY IN MUSCLE WITH DICARBOXYLIC ACIDURIA AND RENAL TUBULAR-ACIDOSIS
    PINTOSMORELL, G
    HAAS, R
    PRODANOS, C
    DIMAURO, S
    NYHAN, WL
    JOURNAL OF CHILD NEUROLOGY, 1990, 5 (02) : 147 - 152
  • [4] CYTOCHROME-C-OXIDASE DEFICIENCY
    DIMAURO, S
    LOMBES, A
    NAKASE, H
    MITA, S
    FABRIZI, GM
    TRITSCHLER, HJ
    BONILLA, E
    MIRANDA, AF
    DEVIVO, DC
    SCHON, EA
    PEDIATRIC RESEARCH, 1990, 28 (05) : 536 - 541
  • [5] CLINICAL AND PATHOLOGICAL VARIATION IN CYTOCHROME-C-OXIDASE DEFICIENCY
    NONAKA, I
    BRAIN & DEVELOPMENT, 1987, 9 (02): : 250 - 250
  • [6] Clinical spectrum of cytochrome-c-oxidase deficiency in children
    Koksal, B.
    Talim, B.
    Haliloglu, G.
    Kale, G.
    Topaloglu, H.
    NEUROMUSCULAR DISORDERS, 2008, 18 (9-10) : 752 - 753
  • [7] UNUSUAL CLINICAL PRESENTATION IN 2 BOYS WITH CYTOCHROME-C-OXIDASE DEFICIENCY
    HREBICEK, M
    ZEMAN, J
    PETRAK, B
    KOZICH, V
    HYANEK, J
    RUITER, JPN
    WANDERS, RJA
    WIJBURG, FA
    JOURNAL OF INHERITED METABOLIC DISEASE, 1992, 15 (03) : 320 - 322
  • [8] IMMUNOHISTOCHEMICAL ANALYSIS OF MUSCLE CYTOCHROME-C-OXIDASE DEFICIENCY IN CHILDREN
    POSSEKEL, S
    LOMBES, A
    DEBAULNY, HO
    CHEVAL, MA
    FARDEAU, M
    KADENBACH, B
    ROMERO, NB
    HISTOCHEMISTRY AND CELL BIOLOGY, 1995, 103 (01): : 59 - 68
  • [9] ISOFORMS OF MAMMALIAN CYTOCHROME-C-OXIDASE - CORRELATION WITH HUMAN CYTOCHROME-C-OXIDASE DEFICIENCY
    KENNAWAY, NG
    CARREROVALENZUELA, RD
    EWART, G
    BALAN, VK
    LIGHTOWLERS, R
    ZHANG, YZ
    POWELL, BR
    CAPALDI, RA
    BUIST, NRM
    PEDIATRIC RESEARCH, 1990, 28 (05) : 529 - 535
  • [10] CYTOCHROME-C-OXIDASE (COX) DEFICIENCY
    DIMAURO, S
    ZEVIANI, M
    BONILLA, E
    SAKODA, S
    SERVIDEI, S
    MIRANDA, AF
    SHERBANY, A
    PRELLE, A
    SCHON, EA
    MUSCLE & NERVE, 1986, 9 (05) : 79 - 79
12345