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Journal Abstract Search

134 related items for PubMed ID: 8582406

  • 1. 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; 154(11):915-8. PubMed ID: 8582406
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  • 4. de Toni-Fanconi-Debré syndrome with Leigh syndrome revealing severe muscle cytochrome c oxidase deficiency.
    Ogier H, Lombes A, Scholte HR, Poll-The BT, Fardeau M, Alcardi J, Vignes B, Niaudet P, Saudubray JM.
    J Pediatr; 1988 May; 112(5):734-9. PubMed ID: 2834526
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  • 8. Neonatal Fanconi syndrome due to deficiency of complex III of the respiratory chain.
    Morris AA, Taylor RW, Birch-Machin MA, Jackson MJ, Coulthard MG, Bindoff LA, Welch RJ, Howell N, Turnbull DM.
    Pediatr Nephrol; 1995 Aug; 9(4):407-11. PubMed ID: 7577396
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  • 9. Clinical heterogeneity in respiratory chain complex III deficiency in childhood.
    Mourmans J, Wendel U, Bentlage HA, Trijbels JM, Smeitink JA, de Coo IF, Gabreëls FJ, Sengers RC, Ruitenbeek W.
    J Neurol Sci; 1997 Jul; 149(1):111-7. PubMed ID: 9168175
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  • 10. Severe renal tubulopathy in a newborn due to BCS1L gene mutation: effects of different treatment modalities on the clinical course.
    Ezgu F, Senaca S, Gunduz M, Tumer L, Hasanoglu A, Tiras U, Unsal R, Bakkaloglu SA.
    Gene; 2013 Oct 10; 528(2):364-6. PubMed ID: 23892085
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  • 11. [De Toni-Debre-Fanconi syndrome caused by cystinosis. Study of a clinical case].
    Costa Mda G, Mota A, Ferreira NC, Fernando S.
    Rev Port Pediatr; 1973 Jan 10; 4(1):86-98. PubMed ID: 4769473
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  • 13. [De Toni-Debré-Fanconi syndrome in a case of lipoid nephrosis].
    Gatti R, Gandullia E, Iester A.
    Minerva Pediatr; 1967 Apr 14; 19(15):715-8. PubMed ID: 5613919
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  • 14. [A case of glycogenosis of type VI with associated de Toni-Debré-Fanconi syndromei1].
    Rossi LN, Bianchi GP.
    Minerva Pediatr; 1975 Jun 23; 27(22):1242-6. PubMed ID: 1056501
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  • 15. 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 23; 43(3):211-4. PubMed ID: 11579332
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  • 17. Gas chromatographic-mass spectrometric metabolic profiling of patients with fatal infantile mitochondrial myopathy with de Toni-Fanconi-Debré syndrome.
    Ning C, Kuhara T, Inoue Y, Zhang CH, Matsumoto M, Shinka T, Furumoto T, Yokota K, Matsumoto I.
    Acta Paediatr Jpn; 1996 Dec 23; 38(6):661-6. PubMed ID: 9002305
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  • 18. Idiopathic de Toni-Debré-Fanconi syndrome with absence of proximal tubular brush border.
    Manz F, Waldherr R, Fritz HP, Lutz P, Nützenadel W, Reitter B, Schärer K, Schmidt H, Trefz F.
    Clin Nephrol; 1984 Sep 23; 22(3):149-57. PubMed ID: 6488596
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  • 19. [Fanconi syndrome with hepatic cirrhosis. Presentation of a case].
    Ortiz Méndez VM, Bonilla Aguirre R, Farfán Boldo J, Velázquez A, Olvera Hidalgo C.
    Bol Med Hosp Infant Mex; 1981 Sep 23; 38(1):169-75. PubMed ID: 7284065
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