Literature DB >> 1405465

Mitochondrial DNA deletion in an 8-year-old boy with Pearson syndrome.

K E Baerlocher1, A Feldges, M Weissert, H J Simonsz, A Rötig.   

Abstract

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Year:  1992        PMID： 1405465     DOI： 10.1007/bf02435968

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


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  8 in total

1.  Widespread multi-tissue deletions of the mitochondrial genome in the Pearson marrow-pancreas syndrome.

Authors:  V Cormier; A Rötig; A R Quartino; G L Forni; R Cerone; M Maier; J M Saudubray; A Munnich
Journal:  J Pediatr       Date:  1990-10       Impact factor: 4.406

2.  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

3.  Organic aciduria in Pearson syndrome.

Authors:  C Jakobs; P Danse; A J Veerman
Journal:  Eur J Pediatr       Date:  1991-07       Impact factor: 3.183

4.  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

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.  Juvenile Pearson syndrome.

Authors:  M E Blaw; C E Mize
Journal:  J Child Neurol       Date:  1990-07       Impact factor: 1.987

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.  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
  8 in total
  6 in total

1.  Detection of mitochondrial DNA deletions by a screening procedure using the polymerase chain reaction.

Authors:  T Ferlin; G Guironnet; M C Barnoux; R Dumoulin; G Stepien; B Mousson
Journal:  Mol Cell Biochem       Date:  1997-09       Impact factor: 3.396

Review 2.  Therapeutic Approaches to Treat Mitochondrial Diseases: "One-Size-Fits-All" and "Precision Medicine" Strategies.

Authors:  Emanuela Bottani; Costanza Lamperti; Alessandro Prigione; Valeria Tiranti; Nicola Persico; Dario Brunetti
Journal:  Pharmaceutics       Date:  2020-11-11       Impact factor: 6.321

3.  Pearson syndrome: altered tricarboxylic acid and urea-cycle metabolites, adrenal insufficiency and corneal opacities.

Authors:  A Ribes; E Riudor; R Valcárel; A Salvá; F Castelló; S Murillo; C Dominguez; A Rötig; C Jakobs
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

4.  Pearson bone marrow-pancreas syndrome with insulin-dependent diabetes, progressive renal tubulopathy, organic aciduria and elevated fetal haemoglobin caused by deletion and duplication of mitochondrial DNA.

Authors:  A Superti-Furga; E Schoenle; P Tuchschmid; R Caduff; V Sabato; D DeMattia; R Gitzelmann; B Steinmann
Journal:  Eur J Pediatr       Date:  1993-01       Impact factor: 3.183

5.  Kearns-Sayre's syndrome developing in a boy who survived pearson's syndrome caused by mitochondrial DNA deletion.

Authors:  H J Simonsz; K Bärlocher; A Rötig
Journal:  Doc Ophthalmol       Date:  1992       Impact factor: 2.379

6.  A topoisomerase II cleavage site is associated with a novel mitochondrial DNA deletion.

Authors:  R B Blok; D R Thorburn; G N Thompson; H H Dahl
Journal:  Hum Genet       Date:  1995-01       Impact factor: 4.132
  6 in total

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