Neurological and neuropathologic heterogeneity in two brothers with cobalamin C deficiency.

@article{Powers2001NeurologicalAN,
  title={Neurological and neuropathologic heterogeneity in two brothers with cobalamin C deficiency.},
  author={Jeremy Michael Powers and DavidS. Rosenblatt and Robert E. Schmidt and Anne H. Cross and Jeanne T. Black and Ann Moser and Hugo W. Moser and David John Morgan},
  journal={Annals of neurology},
  year={2001},
  volume={49 3},
  pages={
          396-400
        }
}
Two adult brothers, one documented to have methylmalonic acidemia with homocystinuria, or cobalamin C deficiency, after autopsy, displayed severe but divergent neurological presentations. One exhibited a myelopathy and the other chronic endocrine problems (Schmidt's syndrome) followed by a neuropsychiatric and dementing disorder owing to cerebral perivascular demyelination. The recognition of cobalamin C deficiency has practical implications because it is one of the few inherited diseases of… CONTINUE READING
BETA

Citations

Publications citing this paper.
SHOWING 1-10 OF 17 CITATIONS

Similar Papers

Loading similar papers…