Gas chromatographic-mass spectrometric metabolic profiling of patients with fatal infantile mitochondrial myopathy with de Toni-Fanconi-Debré syndrome

Pediatrics International

Volumn 38, Issue 6, 1996, Pages 661-666

  Ning, Cong ^a   Kuhara, Tomiko ^a   Inoue, Yoshito ^a   Zhang, Chun Hua ^a   Matsumoto, Masahiro ^a   Shinka, Toshihiro ^a   Furumoto, Tadashi ^a   Yokota, Kazuko ^b   Matsumoto, Isamu ^a  

^a KANAZAWA MEDICAL UNIVERSITY   (Japan)

^b TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

Author keywords

Chemical diagnosis; De Toni Fanconi Debre syndrome; Fatal infantile cytochrome deficiency; Gas chromatography mass spectrometry; Metabolic profile

Indexed keywords

UREASE;

ACIDURIA; AMINOACIDURIA; ARTICLE; CASE REPORT; DIAGNOSTIC ACCURACY; DISEASE SEVERITY; EARLY DIAGNOSIS; ENZYME ACTIVITY; FANCONI RENOTUBULAR SYNDROME; FATALITY; FEMALE; FOLLOW UP; GAS CHROMATOGRAPHY; GLUCOSURIA; HUMAN; INFANT; MALE; MASS SPECTROMETRY; MYOPATHY; PHOSPHATURIA; PREOPERATIVE EVALUATION; PRIORITY JOURNAL; TREATMENT PLANNING;

FANCONI SYNDROME; FEMALE; GAS CHROMATOGRAPHY-MASS SPECTROMETRY; HUMANS; INFANT; MALE; MITOCHONDRIAL MYOPATHIES;

EID: 0029949154     PISSN: 13288067     EISSN: 1442200X     Source Type: Journal    
DOI: 10.1111/j.1442-200X.1996.tb03727.x     Document Type: Article

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