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3-Methylglutaconic aciduria in a patient with Pearson syndrome

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Abbreviations

3-MGC:

3-methylglutaconic

References

  1. Bakkeren JAJM, Sengers RCA, Ruitenbeek W, Trijbels JMF (1991) 3-Methylglutaconic aciduria in a patient with a disturbed mitochondrial energy metabolism [letter]. Eur J Pediatr 151:313

    Google Scholar 

  2. Chitayat D, Chemke J, Gibson KM, Mamer OA, Kronick JB, McGill JJ, Rosenblatt B, Sweetman L, Scriver CR (1992) 3-Methylglutaconic aciduria: a marker for as yet unspecified disorders and the relevance of prenatal diagnosis in a ‘new’ type (‘type 4’). J Inherited Metab Dis 15:204–212

    Google Scholar 

  3. Gibson KM, Sherwood WG, Hoffmann GF, Stumpf DA, Dianzani I, Schutgens RBH, Barth PG, Weismann U, Bachmann C, Schrynemackers-Pitance P, Verloes A, Narisawa K, Mino M, Ohya N, Kelly RI (1991) Phenotypic heterogeneity in the syndromes of 3-methylglutaconic aciduria. J Pediatr 118:885–890

    Google Scholar 

  4. Rötig A, Cormier V, Blanche S, Bonnefont JP, Ledeist F, Romero N, Schmitz J, Rustin P, Fischer A, Saudubray JM, Munnich A (1990) Pearson's Marrow-Pancreas Syndrome. J Clin Invest 86:1601–1608

    Google Scholar 

  5. Sweetman L (1991) Organic acid analysis. In: Hommes FA (ed) Techniques in diagnostic human biochemical genetics: a laboratory manual. Wiley-Liss, New York, pp 143–176

    Google Scholar 

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Authors and Affiliations

  1. Universitäts-Kinderklinik, Im Neuenheimer Feld 150, W 6900, Heidelberg, Germany

    U. Lichter-Konecki, F. K. Trefz & H. J. Bremer

  2. Unité de Recherches sur les Handicaps Génétiques de l'Enfant INSERM U-12, Hôptial des Enfants-Malades, 149 Rue de Sèvres, F-75743, Paris Cedex 15, France

    A. Rötig & A. Munnich

  3. Zentrum Kinderheilkunde, Universitäts-Klinikum, Theodor-Stern-Kai 7, W-6000, Frankfurt a. M., Germany

    A. Pfeil

Authors
  1. U. Lichter-Konecki
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  2. F. K. Trefz
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  3. A. Rötig
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  4. A. Munnich
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  5. A. Pfeil
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  6. H. J. Bremer
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Lichter-Konecki, U., Trefz, F.K., Rötig, A. et al. 3-Methylglutaconic aciduria in a patient with Pearson syndrome. Eur J Pediatr 152, 378–379 (1993). https://doi.org/10.1007/BF01956761

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  • DOI: https://doi.org/10.1007/BF01956761

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