Transcobalamin deficiency — a rare genetic defect in transportation of cobalamin; case report
Transcobalamin deficiency — a rare genetic defect in transportation of cobalamin; case report
About this item
Full title
Author / Creator
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title
Language
English
Formats
Publication information
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Subjects
More information
Scope and Contents
Contents
Background
Vitamin B12 is primarily transported from plasma to cells by Transcobalamin. Deficiency of Transcobalamin is a rare autosomal recessive disorder that results in unavailability of cobalamin in cells and accumulation of homocysteine and methylmalonic acid.
Case Report
We report a case of a 2-year-old male child with persistent pan...
Alternative Titles
Full title
Transcobalamin deficiency — a rare genetic defect in transportation of cobalamin; case report
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_3076767005
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_3076767005
Other Identifiers
ISSN
0939-5555,1432-0584
E-ISSN
1432-0584
DOI
10.1007/s00277-024-05878-7
