Literature DB >> 17243129

Myelodysplastic features and symptoms mimicking cystic fibrosis in a child with an intracellular vitamin B 12 deficiency.

Britt Gustafsson, Ferenc Karpati, Anna Nordenstrom, Stefan Söderhäll, Birgitta Sander, Maria Nordvall, Ulrika von Döbeln.   

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Year:  2007        PMID： 17243129     DOI： 10.1002/pbc.21137

Source DB:  PubMed          Journal:  Pediatr Blood Cancer        ISSN： 1545-5009            Impact factor:   3.167


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  1 in total

1.  Transcobalamin deficiency caused by compound heterozygosity for two novel mutations in the TCN2 gene: a study of two affected siblings, their brother, and their parents.

Authors:  Peter H Nissen; Maria Nordwall; Elke Hoffmann-Lücke; Boe S Sorensen; Ebba Nexo
Journal:  J Inherit Metab Dis       Date:  2010-07-06       Impact factor: 4.982
  1 in total

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