| Literature DB >> 21910240 |
Majid Alfadhel1, Yolanda P Lillquist, Cynthia Davis, Anne K Junker, Sylvia Stockler-Ipsiroglu.
Abstract
Cobalamin F disease (cblF) is a rare disorder of intracellular cobalamin metabolism resulting in failure to thrive, recurrent stomatitis, skin rash, megaloblastic anemia, hypotonia, seizures, and intellectual disability. Data on long-term outcomes are not available. We report on the outcome of a patient with cblF disease with a frameshift mutation in the LMBRD1 gene after 18 years of intramuscular hydroxycobalamin treatment.Entities:
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Year: 2011 PMID： 21910240 DOI： 10.1002/ajmg.a.34220
Source DB: PubMed Journal: Am J Med Genet A ISSN： 1552-4825 Impact factor: 2.802