Literature DB >> 3143215

Transcobalamin II deficiency: long-term follow-up of two cases.

M C Arrabal1, A Villegas, E Mariscal, B Lentijo, W Luck, A V Hoffbrand.   

Abstract

Two Spanish siblings, a boy and girl, with transcobalamin II (TCII) deficiency are described. Both have grown and developed mentally normally after 10 years of vitamin B12 therapy. Two other siblings died soon after birth and it is almost certain that they also suffered from TCII deficiency.

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Year:  1988        PMID： 3143215     DOI： 10.1159/000205624

Source DB:  PubMed          Journal:  Acta Haematol        ISSN： 0001-5792            Impact factor:   2.195


  3 in total

Review 1.  Transcobalamin II deficiency: case report and review of the literature.

Authors:  Y Kaikov; L D Wadsworth; C A Hall; P C Rogers
Journal:  Eur J Pediatr       Date:  1991-10       Impact factor: 3.183

2.  Long-term follow up of patients with transcobalamin II deficiency.

Authors:  P T Monagle; G P Tauro
Journal:  Arch Dis Child       Date:  1995-03       Impact factor: 3.791

3.  Update on transcobalamin deficiency: clinical presentation, treatment and outcome.

Authors:  Y J Trakadis; A Alfares; O A Bodamer; M Buyukavci; J Christodoulou; P Connor; E Glamuzina; F Gonzalez-Fernandez; H Bibi; B Echenne; I Manoli; J Mitchell; M Nordwall; C Prasad; F Scaglia; M Schiff; B Schrewe; G Touati; M C Tchan; B Varet; C P Venditti; D Zafeiriou; C A Rupar; D S Rosenblatt; D Watkins; N Braverman
Journal:  J Inherit Metab Dis       Date:  2013-12-05       Impact factor: 4.982
  3 in total

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