The Journal of Pediatrics
Volume 154, Issue 4 , Pages 551-556, April 2009

Clinical and Molecular Heterogeneity in Patients with the CblD Inborn Error of Cobalamin Metabolism

  • Isabelle R. Miousse, BSc

      Affiliations

    • Department of Human Genetics, McGill University Health Centre, Montreal, Quebec
    • ,
  • David Watkins, PhD

      Affiliations

    • Department of Human Genetics, McGill University Health Centre, Montreal, Quebec
    • Corresponding Author InformationReprint requests: David Watkins, PhD, Division of Medical Genetics, Room L3-319, McGill University Health Centre, Montreal General Hospital, 1650 Cedar Avenue, Montreal, Quebec, Canada, H3G 1A4
    • ,
  • David Coelho, PhD

      Affiliations

    • Metabolic Unit, University Children's Hospital, Basel, Switzerland
    • ,
  • Tony Rupar, PhD

      Affiliations

    • Departments of Pediatrics, Biochemistry and the Children's Health Research Institute, University of Western Ontario, London, Ontario, Canada
    • ,
  • Eric A. Crombez, MD

      Affiliations

    • Department of Pediatrics, University of California Los Angeles, Los Angeles
    • ,
  • Eric Vilain, MD

      Affiliations

    • Department of Pediatrics, University of California Los Angeles, Los Angeles
    • Department of Urology, University of California Los Angeles, Los Angeles
    • Department of Human Genetics, University of California Los Angeles, Los Angeles
    • ,
  • Jonathan A. Bernstein, MD, PhD

      Affiliations

    • Department of Pediatrics, Division of Genetics, Stanford University, Palo Alto, CA
    • ,
  • Tina Cowan, PhD

      Affiliations

    • Division of Pathology, Stanford University, Palo Alto, CA
    • ,
  • Christopher Lee-Messer, MD, PhD

      Affiliations

    • Division of Neurology, Stanford University, Palo Alto, CA
    • ,
  • Gregory M. Enns, MB, ChB

      Affiliations

    • Department of Pediatrics, Division of Genetics, Stanford University, Palo Alto, CA
    • ,
  • Brian Fowler, PhD

      Affiliations

    • Metabolic Unit, University Children's Hospital, Basel, Switzerland
    • ,
  • David S. Rosenblatt, MD

      Affiliations

    • Department of Human Genetics, McGill University Health Centre, Montreal, Quebec
    • Division of Medical Genetics, Department of Medicine, McGill University Health Centre, Montreal, Quebec

Received 21 May 2008; received in revised form 3 October 2008; accepted 27 October 2008. published online 08 December 2008.

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 The authors declare no conflicts of interest, real or perceived.

PII: S0022-3476(08)00954-2

doi:10.1016/j.jpeds.2008.10.043

The Journal of Pediatrics
Volume 154, Issue 4 , Pages 551-556, April 2009

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