Literature DB >> 34342795

A Treatable Cause of Global Developmental Delay with Epileptic Spasm and Delayed Myelination Due to Cobalamin-Related Remethylation Disorder.

Vykuntaraju K Gowda1, Varunvenkat M Srinivasan2, Varsha Reddy2, Jitendra Saini3, Maya Bhat3.   

Abstract

Entities:  

Year:  2021        PMID： 34342795     DOI： 10.1007/s12098-021-03901-7

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


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  1 in total

1.  Cobalamin E disease with a novel homozygous MTRR mutation as a cobalamin-related remethylation disorder: a treatable etiology in West syndrome.

Authors:  Tuğçe Aksu Uzunhan; Bülent Uyanık; Melike Ersoy; Yelda Türkmenoğlu
Journal:  Acta Neurol Belg       Date:  2022-02-05       Impact factor: 2.396
  1 in total

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