Literature DB >> 29076057

Erratum: Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD).

Shanti Balasubramaniam1,2,3, B Lewis4, D M Mock5, H M Said6, M Tarailo-Graovac7, A Mattman8, C D van Karnebeek9, D R Thorburn10,11, R J Rodenburg12, J Christodoulou10,11.   

Abstract

Entities:  

Year:  2017        PMID： 29076057      PMCID： PMC5669218          DOI： 10.1007/8904_2017_588

Source DB:  PubMed          Journal:  JIMD Rep        ISSN： 2192-8304


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  1 in total

1.  Milder Phenotype of Homoplasmic Versus Heteroplasmic m.8344A>G Variant in the Same Family: A Case Report.

Authors:  Josef Finsterer; Sounira Mehri
Journal:  Cureus       Date:  2022-08-28
  1 in total

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