Simultaneous metabolic profile studies of three patients with fatal infantile mitochondrial myopathy-deToni-Fanconi-Debre syndrome by GC/MS

被引：12

作者：

Ning, C ^{[1
]}

Kuhara, T ^{[1
]}

Matsumoto, I ^{[1
]}

机构：

[1] KANAZAWA MED UNIV,MED RES INST,DIV HUMAN GENET,UCHINADA,ISHIKAWA 92002,JAPAN

来源：

CLINICA CHIMICA ACTA | 1996年 / 247卷 / 1-2期

关键词：

D O I：

10.1016/0009-8981(95)06238-6

中图分类号：

R446 [实验室诊断]; R-33 [实验医学、医学实验];

学科分类号：

1001 ;

摘要：

引用

页码：197 / 200

页数：4

共 5 条

[1] MITOCHONDRIAL MYOPATHIES [J].

DIMAURO, S ;

BONILLA, E ;

ZEVIANI, M ;

NAKAGAWA, M ;

DEVIVO, DC .

ANNALS OF NEUROLOGY, 1985, 17 (06) :521-538

[2] VARIABLE PRESENTATION OF CYTOCHROME-C-OXIDASE DEFICIENCY [J].

KEPPLER, K ;

CUNNIFF, C .

AMERICAN JOURNAL OF DISEASES OF CHILDREN, 1992, 146 (11) :1349-1352

[3] AUTOMATED SCREENING OF URINE SAMPLES FOR CARBOHYDRATES, ORGANIC AND AMINO-ACIDS AFTER TREATMENT WITH UREASE [J].

SHOEMAKER, JD ;

ELLIOTT, WH .

JOURNAL OF CHROMATOGRAPHY-BIOMEDICAL APPLICATIONS, 1991, 562 (1-2) :125-138

[4] MULTIPLE CYTOCHROME DEFICIENCY AND DETERIORATED MITOCHONDRIAL POLYPEPTIDE COMPOSITION IN FATAL INFANTILE MITOCHONDRIAL MYOPATHY AND RENAL DYSFUNCTION [J].

TANAKA, M ;

NISHIKIMI, M ;

SUZUKI, H ;

OZAWA, T ;

OKINO, E ;

TAKAHASHI, H .

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1986, 137 (02) :911-916

[5] HEREDITARY MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDEMIA, A DETONI-FANCONI-DEBRE SYNDROME, AND A DEFECTIVE RESPIRATORY-CHAIN IN VOLUNTARY STRIATED MUSCLES [J].

VANBIERVLIET, JPGM ;

BRUINVIS, L ;

KETTING, D ;

DEBREE, PK ;

VANDERHEIDEN, C ;

WADMAN, SK ;

WILLEMS, JL ;

BOOKELMAN, H ;

VANHAELST, U ;

MONNENS, LAH .

PEDIATRIC RESEARCH, 1977, 11 (10) :1088-1093

← 1 →