Literature DB >> 7609448

Human cultured myoblasts: a model for the diagnosis of mitochondrial diseases.

R Dumoulin1, G Mandon, J M Collombet, J L Blond, H Carrier, C Godinot, F Flocard, J Villard, P Guibaud, M Mathieu.   

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Year:  1993        PMID： 7609448     DOI： 10.1007/BF00711677

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


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  4 in total

1.  A point mutation in the mitochondrial tRNA(Leu)(UUR) gene in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes).

Authors:  Y Kobayashi; M Y Momoi; K Tominaga; T Momoi; K Nihei; M Yanagisawa; Y Kagawa; S Ohta
Journal:  Biochem Biophys Res Commun       Date:  1990-12-31       Impact factor: 3.575

2.  Maple syrup urine disease: analysis of branched chain ketoacid decarboxylation in cultured fibroblasts.

Authors:  U Wendel; H Wentrup; H W Rüdiger
Journal:  Pediatr Res       Date:  1975-09       Impact factor: 3.756

3.  A familial progressive neurodegenerative disease with 2-oxoglutaric aciduria.

Authors:  A Kohlschütter; A Behbehani; U Langenbeck; M Albani; P Heidemann; G Hoffmann; J Kleineke; W Lehnert; U Wendel
Journal:  Eur J Pediatr       Date:  1982-02       Impact factor: 3.183

4.  Infantile form of carnitine palmitoyltransferase II deficiency with hepatomuscular symptoms and sudden death. Physiopathological approach to carnitine palmitoyltransferase II deficiencies.

Authors:  F Demaugre; J P Bonnefont; M Colonna; C Cepanec; J P Leroux; J M Saudubray
Journal:  J Clin Invest       Date:  1991-03       Impact factor: 14.808
  4 in total
  2 in total

1.  2-Ketoglutarate dehydrogenase deficiency, a rare cause of primary hyperlactataemia: report of a new case.

Authors:  N Guffon; C Lopez-Mediavilla; R Dumoulin; B Mousson; C Godinot; H Carrier; J M Collombet; P Divry; M Mathieu; P Guibaud
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

Review 2.  Organization of the Respiratory Supercomplexes in Cells with Defective Complex III: Structural Features and Metabolic Consequences.

Authors:  Michela Rugolo; Claudia Zanna; Anna Maria Ghelli
Journal:  Life (Basel)       Date:  2021-04-17
  2 in total

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