Literature DB >> 8739951

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

U Caruso1, 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.   

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Year:  1996        PMID: 8739951     DOI: 10.1007/bf01799415

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


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  4 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.  Muscle cytochrome c oxidase deficiency in two Italian patients with ethylmalonic aciduria and peculiar clinical phenotype.

Authors:  B Garavaglia; V Colamaria; F Carrara; P Tonin; M Rimoldi; G Uziel
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

3.  A new syndrome with ethylmalonic aciduria and normal fatty acid oxidation in fibroblasts.

Authors:  A B Burlina; C Dionisi-Vici; M J Bennett; K M Gibson; S Servidei; E Bertini; D E Hale; E Schmidt-Sommerfeld; G Sabetta; F Zacchello
Journal:  J Pediatr       Date:  1994-01       Impact factor: 4.406

4.  Fatal infantile liver failure associated with mitochondrial DNA depletion.

Authors:  M R Mazziotta; E Ricci; E Bertini; C Dionisi Vici; S Servidei; A B Burlina; G Sabetta; A Bartuli; G Manfredi; G Silvestri
Journal:  J Pediatr       Date:  1992-12       Impact factor: 4.406

  4 in total
  2 in total

Review 1.  Metabolic cardiomyopathies.

Authors:  B Guertl; C Noehammer; G Hoefler
Journal:  Int J Exp Pathol       Date:  2000-12       Impact factor: 1.925

2.  Clinical presentations of mitochondrial cardiomyopathies.

Authors:  D Lev; A Nissenkorn; E Leshinsky-Silver; M Sadeh; A Zeharia; B-Z Garty; L Blieden; V Barash; T Lerman-Sagie
Journal:  Pediatr Cardiol       Date:  2004-06-08       Impact factor: 1.655

  2 in total

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