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Eighteen-year follow-up of a patient with cobalamin F disease (cblF): Report and review

✍ Scribed by Majid Alfadhel; Yolanda P. Lillquist; Cynthia Davis; Anne K. Junker; Sylvia Stockler-Ipsiroglu

Publisher: John Wiley and Sons
Year: 2011
Tongue: English
Weight: 107 KB
Volume: 155
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.34220

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✦ Synopsis

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. © 2011 Wiley‐Liss, Inc.

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