Literature DB >> 1405463

Detection of extremely low levels of wild-type mitochondrial DNA in the liver of a patient with Pearson syndrome by a sensitive PCR assay.

D D de Vries1, W Ruitenbeek, B A van Oost.   

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Year:  1992        PMID： 1405463     DOI： 10.1007/bf02435963

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


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  13 in total

1.  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

2.  Progressive increase of the mutated mitochondrial DNA fraction in Kearns-Sayre syndrome.

Authors:  N G Larsson; E Holme; B Kristiansson; A Oldfors; M Tulinius
Journal:  Pediatr Res       Date:  1990-08       Impact factor: 3.756

3.  Mitochondrial myopathies: clinical and biochemical features of 30 patients with major deletions of muscle mitochondrial DNA.

Authors:  I J Holt; A E Harding; J M Cooper; A H Schapira; A Toscano; J B Clark; J A Morgan-Hughes
Journal:  Ann Neurol       Date:  1989-12       Impact factor: 10.422

4.  Mitochondrial DNA deletion in Pearson's marrow/pancreas syndrome.

Authors:  A Rotig; M Colonna; J P Bonnefont; S Blanche; A Fischer; J M Saudubray; A Munnich
Journal:  Lancet       Date:  1989-04-22       Impact factor: 79.321

5.  Sequence and organization of the human mitochondrial genome.

Authors:  S Anderson; A T Bankier; B G Barrell; M H de Bruijn; A R Coulson; J Drouin; I C Eperon; D P Nierlich; B A Roe; F Sanger; P H Schreier; A J Smith; R Staden; I G Young
Journal:  Nature       Date:  1981-04-09       Impact factor: 49.962

6.  Germ-line deletions of mtDNA in mitochondrial myopathy.

Authors:  J Poulton; M E Deadman; S Ramacharan; R M Gardiner
Journal:  Am J Hum Genet       Date:  1991-04       Impact factor: 11.025

7.  Site-specific deletions of the mitochondrial genome in the Pearson marrow-pancreas syndrome.

Authors:  A Rötig; V Cormier; F Koll; C E Mize; J M Saudubray; A Veerman; H A Pearson; A Munnich
Journal:  Genomics       Date:  1991-06       Impact factor: 5.736

8.  Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome.

Authors:  C T Moraes; S DiMauro; M Zeviani; A Lombes; S Shanske; A F Miranda; H Nakase; E Bonilla; L C Werneck; S Servidei
Journal:  N Engl J Med       Date:  1989-05-18       Impact factor: 91.245

9.  Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies.

Authors:  I J Holt; A E Harding; J A Morgan-Hughes
Journal:  Nature       Date:  1988-02-25       Impact factor: 49.962

10.  A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction.

Authors:  H A Pearson; J S Lobel; S A Kocoshis; J L Naiman; J Windmiller; A T Lammi; R Hoffman; J C Marsh
Journal:  J Pediatr       Date:  1979-12       Impact factor: 4.406
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  2 in total

1.  Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia.

Authors:  D D De Vries; L N Went; G W Bruyn; H R Scholte; R M Hofstra; P A Bolhuis; B A van Oost
Journal:  Am J Hum Genet       Date:  1996-04       Impact factor: 11.025

2.  X-linked myoclonus epilepsy explained as a maternally inherited mitochondrial disorder.

Authors:  D D de Vries; I J de Wijs; G Wolff; U P Ketelsen; H H Ropers; B A van Oost
Journal:  Hum Genet       Date:  1993-03       Impact factor: 4.132
  2 in total

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