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Minor facial anomalies in combined methylmalonic aciduria and homocystinuria due to a defect in cobalamin metabolism

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Journal of Inherited Metabolic Disease

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REFERENCES

  • Bellini C, Cerone R, Bonacci W, et al (1992) Biochemical diagnosis and outcome of 2 years treatment in a patient with combined methylmalonic aciduria and homocystinuria. Eur J Pediatr 151: 818–820.

    Google Scholar 

  • Caruso U, Lupino S, Schiaffino MC, Romano C (1993). Capillary GC-MS stable isotope dilution of methylmalonic acid in plasma: a candidate reference method for the diagnosis and the follow-up of methylmalonic acidaemias. Chromatographia 36: 212–214.

    Google Scholar 

  • Cerone R, Barbano G, Maritano L, et al (1994) Syndrome hemolytique et uremique neonatal, acidurie methylmalonique et homocystinurie par deficit intracellulaire de la vitamine B12. Arch Pediatr 1: 762–763.

    Google Scholar 

  • Fenton WA, Rosenblatt LE (1995) Inherited disorders of cobalamin transport and metabolism. In Scriver CR, Beaudet AL, Sly Ws, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill, New York, 3129–3149.

  • Rosenblatt DS, Laframboise R, Pichette J, Langevin P, Cooper BA, Costa T (1986) New disorder of vitamin B12 metabolism (cobalamin F) presenting as methylmalonic aciduria. Pediatrics 78: 51–55.

    Google Scholar 

  • Rosenblatt DS, Aspler AL, Shevell MI, Pletcher BA, Fenton WA, Seashore MR (1997) Clinical heterogeneity and prognosis in combined methylmalonic aciduria and homocystinuria (Cbl-C). J Inher Metab Dis 20: 528–538.

    Google Scholar 

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Authors and Affiliations

  1. University Department of Pediatrics, G. Gaslini Institute, Genova, Italy

    R. Cerone, M. C. Schiaffino, U. Caruso & S. Lupino

  2. 3rd Division of Pediatrics, G. Gaslini Institute, Genova, Italy

    R. Gatti

Authors
  1. R. Cerone
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  2. M. C. Schiaffino
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  3. U. Caruso
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  4. S. Lupino
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  5. R. Gatti
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Cerone, R., Schiaffino, M.C., Caruso, U. et al. Minor facial anomalies in combined methylmalonic aciduria and homocystinuria due to a defect in cobalamin metabolism. J Inherit Metab Dis 22, 247–250 (1999). https://doi.org/10.1023/A:1005521702298

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  • DOI: https://doi.org/10.1023/A:1005521702298

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