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Journal Abstract Search

117 related items for PubMed ID: 9002305

  • 1.
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  • 2. Simultaneous metabolic profile studies of three patients with fatal infantile mitochondrial myopathy-de Toni-Fanconi-Debré syndrome by GC/MS.
    Ning C, Kuhara T, Matsumoto I.
    Clin Chim Acta; 1996 Mar 29; 247(1-2):197-200. PubMed ID: 8920239
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  • 3. [Primary Toni-Debré-Fanconi syndrome].
    Berio A.
    Pediatr Med Chir; 1993 Mar 29; 15(1):79-85. PubMed ID: 8488131
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  • 4. Mitochondrial myopathy with lactic acidaemia, Fanconi-De Toni-Debré syndrome and a disturbed succinate: cytochrome c oxidoreductase activity.
    Sperl W, Ruitenbeek W, Trijbels JM, Sengers RC, Stadhouders AM, Guggenbichler JP.
    Eur J Pediatr; 1988 May 29; 147(4):418-21. PubMed ID: 2840289
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  • 5. Neonatal De Toni-Debré-Fanconi syndrome due to a defect in complex III of the respiratory chain.
    Wendel U, Ruitenbeek W, Bentlage HA, Sengers RC, Trijbels JM.
    Eur J Pediatr; 1995 Nov 29; 154(11):915-8. PubMed ID: 8582406
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  • 6. [A monodimensional electrophoretic picture of urinary amino acids in de Toni-Debré-Fanconi syndrome caused by cystinosis].
    Berio A.
    Minerva Pediatr; 1986 Dec 31; 38(23-24):1123-8. PubMed ID: 3561362
    [No Abstract] [Full Text] [Related]

  • 7. Hereditary mitochondrial myopathy with lactic acidemia, a De Toni-Fanconi-Debré syndrome, and a defective respiratory chain in voluntary striated muscles.
    Van Biervliet JP, Bruinvis L, Ketting D, De Bree PK, Van der Heiden C, Wadman SK.
    Pediatr Res; 1977 Oct 31; 11(10 Pt 2):1088-93. PubMed ID: 904972
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  • 10. Kearns-Sayre syndrome associated with de Toni-Debré-Fanconi syndrome due to cytochrome-c-oxidase (COX) deficiency.
    Berio A, Piazzi A.
    Panminerva Med; 2001 Sep 31; 43(3):211-4. PubMed ID: 11579332
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  • 11. [Diagnosis of De Toni-Debré-Fanconi disease in children].
    Mal'tsev SV.
    Vopr Okhr Materin Det; 1980 Feb 31; 25(2):32-5. PubMed ID: 7368640
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  • 12. Renal involvement in mitochondrial cytopathies.
    Niaudet P, Rötig A.
    Pediatr Nephrol; 1996 Jun 31; 10(3):368-73. PubMed ID: 8792408
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  • 13. Mitochondrial encephalomyopathies preceded by de-Toni-Debré-Fanconi syndrome or focal segmental glomerulosclerosis.
    Mochizuki H, Joh K, Kawame H, Imadachi A, Nozaki H, Ohashi T, Usui N, Eto Y, Kanetsuna Y, Aizawa S.
    Clin Nephrol; 1996 Nov 31; 46(5):347-52. PubMed ID: 8953126
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  • 15. Urine glyceraldehyde excretion is elevated in the renal Fanconi syndrome.
    Jonas AJ, Lin SN, Conley SB, Schneider JA, Williams JC, Caprioli RC.
    Kidney Int; 1989 Jan 31; 35(1):99-104. PubMed ID: 2709665
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  • 20. Pilot study of gas chromatographic-mass spectrometric screening of newborn urine for inborn errors of metabolism after treatment with urease.
    Kuhara T, Shinka T, Inoue Y, Ohse M, Zhen-wei X, Yoshida I, Inokuchi T, Yamaguchi S, Takayanagi M, Matsumoto I.
    J Chromatogr B Biomed Sci Appl; 1999 Aug 06; 731(1):141-7. PubMed ID: 10492000
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