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Fatal neonatal outcome in a case of muscular mitochondrial DNA depletion

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Journal of Inherited Metabolic Disease

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REFERENCES

  • Bakker HD, Van Den Bogert C, Scholte HR et al (1996) Fatal neonatal liver failure and depletion of mitochondrial DNA in three children of one family. J Inherit Metab Dis 19: 112–115.

    Google Scholar 

  • Mazziotta MRM, Ricci E, Bertini E, et al (1992) Fatal infantile liver failure associated with mitochondrial DNA depletion. J Pediatr 121: 896–901.

    Google Scholar 

  • Moraes CT, Schanske S, Tritschler HJ, et al (1991) mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases. Am J Hum Genet 48: 492–501.

    Google Scholar 

  • Poulton J, Morten K, Freeman-Emmerson C, et al (1994) De¢ciency of the human mitochondrial transcription factor h-mtTFA in infantile mitochondrial myopathy is associated with mtDNA depletion. Hum Mol Genet 3: 1763–1769.

    Google Scholar 

  • Vu TH, Sciacco M, Tanji K, et al (1998) Clinical manifestation of mitochondrial DNA depletion. Neurology 50: 1783–1790.

    Google Scholar 

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Authors and Affiliations

  1. Dipartimento di Pediatria, Università degli Studi di Firenze, Florence

    G. M. Poggi, F. Ciani & M. A. Donati

  2. Divisione di Biochimica e Genetica–, Istituto Neurologico ‘C. Besta’, Milan

    E. Lamantea, F. Carrara & B. Garavaglia

  3. U.O. Neonatologia–Pediatria Università degli Studi di Pisa, Pisa, Italy

    L. Bartalena

  4. Dipartimento di Pediatria., Università degli Studi di Firenze, Florence

    E. Zammarchi

Authors
  1. G. M. Poggi
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  2. E. Lamantea
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  3. F. Ciani
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  4. M. A. Donati
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  5. F. Carrara
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  6. L. Bartalena
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  7. B. Garavaglia
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  8. E. Zammarchi
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Poggi, G.M., Lamantea, E., Ciani, F. et al. Fatal neonatal outcome in a case of muscular mitochondrial DNA depletion. J Inherit Metab Dis 23, 755–757 (2000). https://doi.org/10.1023/A:1005663804214

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  • DOI: https://doi.org/10.1023/A:1005663804214

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