Literature DB >> 2213388

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

V Cormier1, A Rötig, A R Quartino, G L Forni, R Cerone, M Maier, J M Saudubray, A Munnich.   

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Year:  1990        PMID： 2213388     DOI： 10.1016/s0022-3476(05)80698-5

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


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  16 in total

Review 1.  Clinical mitochondrial genetics.

Authors:  P F Chinnery; N Howell; R M Andrews; D M Turnbull
Journal:  J Med Genet       Date:  1999-06       Impact factor: 6.318

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

Authors:  K E Baerlocher; A Feldges; M Weissert; H J Simonsz; A Rötig
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

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

Authors:  D D de Vries; W Ruitenbeek; B A van Oost
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

4.  Organic aciduria in Pearson syndrome.

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

Review 5.  Respiratory-chain and pyruvate metabolism defects: Italian collaborative survey on 72 patients.

Authors:  U Caruso; A Adami; E Bertini; A B Burlina; F Carnevale; R Cerone; C Dionisi-Vici; G Giordano; E Leuzzi; G Parenti; S Savasta; G Uziel; M Zeviani
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982

6.  Acute pancreatitis in an infant with lactic acidosis and a mutation at nucleotide 3243 in the mitochondrial DNA tRNALeu(UUR) gene.

Authors:  P S Kishnani; J L Van Hove; J S Shoffner; A Kaufman; E H Bossen; S G Kahler
Journal:  Eur J Pediatr       Date:  1996-10       Impact factor: 3.183

7.  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

8.  Liver cytochrome c oxidase deficiency in a case of neonatal-onset hepatic failure.

Authors:  P Edery; B Gérard; D Chretien; A Rötig; R Cerrone; D Rabier; C Rambaud; M Fabre; J M Saudubray; A Munnich
Journal:  Eur J Pediatr       Date:  1994-03       Impact factor: 3.183

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

10.  Atypical presentation of multisystem disorders in two girls with mitochondrial DNA deletions.

Authors:  M H Tulinius; A Oldfors; E Holme; N G Larsson; M Houshmand; P Fahleson; L Sigström; B Kristiansson
Journal:  Eur J Pediatr       Date:  1995-01       Impact factor: 3.183
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