title: Eighteen-year follow-up of a patient with cobalamin F disease (cblF): report and review.
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.
authors: Division of Biochemical Diseases, Department of Pediatrics, BC Children's Hospital Vancouver, British Columbia, Canada.
authors: Majid
authors: M
authors: Alfadhel
authors: Yolanda P
authors: YP
authors: Lillquist
authors: Cynthia
authors: C
authors: Davis
authors: Anne K
authors: AK
authors: Junker
authors: Sylvia
authors: S
authors: Stockler-Ipsiroglu
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D000293:Adolescent; D005260:Female; D005500:Follow-Up Studies; D016368:Frameshift Mutation / Q000235:genetics*; D006801:Humans; D007107:Immune System / Q000473:pathology; D008607:Intellectual Disability / Q000235:genetics / Q000473:pathology*; D029543:Nucleocytoplasmic Transport Proteins / Q000235:genetics*; D014806:Vitamin B 12 Deficiency / Q000235:genetics* / Q000473:pathology*
chemical_list: C502888:LMBRD1 protein, human; D029543:Nucleocytoplasmic Transport Proteins