Literature DB >> 22167278

Transcobalamin (TC) deficiency and newborn screening.

Chitra Prasad, A E Cairney, D S Rosenblatt, C A Rupar.   

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Year:  2011        PMID： 22167278     DOI： 10.1007/s10545-011-9431-4

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  2 in total

1.  Transcobalamin II deficiency at birth.

Authors:  Rene Ratschmann; Milen Minkov; Ana Kis; Christina Hung; Tony Rupar; Adolf Mühl; Brian Fowler; Ebba Nexo; Olaf A Bodamer
Journal:  Mol Genet Metab       Date:  2009-06-06       Impact factor: 4.797

2.  Transcobalamin (TC) deficiency--potential cause of bone marrow failure in childhood.

Authors:  C Prasad; D S Rosenblatt; K Corley; A E L Cairney; C A Rupar
Journal:  J Inherit Metab Dis       Date:  2008-10-29       Impact factor: 4.982
  2 in total
  3 in total

1.  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

2.  Biochemical and Hematologic Manifestations of Gastric Intrinsic Factor (GIF) Deficiency: A Treatable Cause of B12 Deficiency in the Old Order Mennonite Population of Southwestern Ontario.

Authors:  A Ferrand; V M Siu; C A Rupar; M P Napier; O Y Al-Dirbashi; P Chakraborty; C Prasad
Journal:  JIMD Rep       Date:  2014-10-12

3.  Identification of transcobalamin deficiency with two novel mutations in the TCN2 gene in a Chinese girl with abnormal immunity: a case report.

Authors:  Shihong Zhan; Fangfang Cheng; Hailong He; Shaoyan Hu; Xing Feng
Journal:  BMC Pediatr       Date:  2020-10-06       Impact factor: 2.125
  3 in total

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