Community Academic Profiles–

Jon Bernstein

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Publication Details

  • Clinical and molecular heterogeneity in patients with the cblD inborn error of cobalamin metabolism.

    Miousse IR, Watkins D, Coelho D, Rupar T, Crombez EA, Vilain E, Bernstein JA, Cowan T, Lee-Messer C, Enns GM, Fowler B, Rosenblatt DS. J Pediatr. 2009; 154 (4): 551-6

    To describe 3 patients with the cblD disorder, a rare inborn error of cobalamin metabolism caused by mutations in the MMADHC gene that can result in isolated homocystinuria, isolated methylmalonic aciduria, or combined homocystinuria and methylmalonic aciduria.

    PubMedID: 19058814

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