Literature DB >> 25947267

Novel Mutation in an Indian Patient with Transcobalamin II Deficiency.

Sandip Bartakke1, Avinash Saindane2, Vardhaman Udgirkar3, S Shrividya4, Gandham SriLakshmi Bhavani5, Katta M Girisha5.   

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Year:  2015        PMID： 25947267     DOI： 10.1007/s12098-015-1770-y

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN： 0019-5456            Impact factor:   1.967


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  1 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
  1 in total
  2 in total

1.  Case report: Novel compound-heterozygous mutations in the TCN2 gene identified in a chinese girl with transcobalamin deficiency.

Authors:  Juan Luo; Hongxi Guo; Lifang Feng; Luhong Yang; Xiaoqian Chen; Tingting Du; Man Hu; Hui Yao; Xiaohong Chen
Journal:  Front Genet       Date:  2022-08-12       Impact factor: 4.772

2.  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
  2 in total

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