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

页码：301 / 303

页数：3

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[3]

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[4]

DIDONATO S, 1986, NEUROLOGY, V36, P957

[5] FLUOROMETRIC ASSAY OF ACYL-COA DEHYDROGENASES IN NORMAL AND MUTANT HUMAN-FIBROBLASTS [J].

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GOODMAN, SI .

BIOCHEMICAL MEDICINE, 1985, 33 (01) :38-44

[6] ETHYLMALONIC ACIDURIA ASSOCIATED WITH PROGRESSIVE NEUROLOGICAL DISEASE AND PARTIAL CYTOCHROME-C-OXIDASE DEFICIENCY [J].

LEHNERT, W ;

RUITENBEEK, W .

JOURNAL OF INHERITED METABOLIC DISEASE, 1993, 16 (03) :557-559

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