Literature DB >> 7807936

Complex I deficiency with diabetes, Fanconi syndrome and mtDNA deletion.

A Luder1, V Barash.   

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Year:  1994        PMID： 7807936     DOI： 10.1007/bf00711812

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  9 in total

Review 1.  Deletions of the mitochondrial genome.

Authors:  A E Harding; S R Hammans
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

2.  Duplications of mitochondrial DNA: implications for pathogenesis.

Authors:  J Poulton
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

Review 3.  Diseases of the mitochondrial DNA.

Authors:  D C Wallace
Journal:  Annu Rev Biochem       Date:  1992       Impact factor: 23.643

4.  Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy.

Authors:  A Rötig; V Cormier; S Blanche; J P Bonnefont; F Ledeist; N Romero; J Schmitz; P Rustin; A Fischer; J M Saudubray
Journal:  J Clin Invest       Date:  1990-11       Impact factor: 14.808

5.  Pearson syndrome and mitochondrial encephalomyopathy in a patient with a deletion of mtDNA.

Authors:  M A McShane; S R Hammans; M Sweeney; I J Holt; T J Beattie; E M Brett; A E Harding
Journal:  Am J Hum Genet       Date:  1991-01       Impact factor: 11.025

6.  Deletion mutants are functionally dominant over wild-type mitochondrial genomes in skeletal muscle fiber segments in mitochondrial disease.

Authors:  E A Shoubridge; G Karpati; K E Hastings
Journal:  Cell       Date:  1990-07-13       Impact factor: 41.582

7.  Heteroplasmy of mitochondrial genomes in clonal cultures from patients with Kearns-Sayre syndrome.

Authors:  C T Moraes; E A Schon; S DiMauro; A F Miranda
Journal:  Biochem Biophys Res Commun       Date:  1989-04-28       Impact factor: 3.575

8.  Mitochondrial myopathies: divergences of genetic deletions, biochemical defects and the clinical syndromes.

Authors:  K D Gerbitz; B Obermaier-Kusser; S Zierz; D Pongratz; J Müller-Höcker; P Lestienne
Journal:  J Neurol       Date:  1990-02       Impact factor: 4.849

9.  Clinical aspects of mitochondrial disorders.

Authors:  A Munnich; P Rustin; A Rötig; D Chretien; J P Bonnefont; C Nuttin; V Cormier; A Vassault; P Parvy; J Bardet
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982
  9 in total
  2 in total

1.  Congenital rickets.

Authors:  S Ozsoylu; A Gürgey; T Coskun
Journal:  Eur J Pediatr       Date:  1996-09       Impact factor: 3.183

2.  Neonatal De Toni-Debré-Fanconi syndrome due to a defect in complex III of the respiratory chain.

Authors:  U Wendel; W Ruitenbeek; H A Bentlage; R C Sengers; J M Trijbels
Journal:  Eur J Pediatr       Date:  1995-11       Impact factor: 3.183
  2 in total

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