Review for 10.1186/s12876-020-01280-5 (2020)

Reviewer ’s report  
 
Title: Clinical and Molecular Characterization of a Patient with Mitochondrial 
Neurogastrointestinal  Encephalomyopathy  
 
Version: 1 Date: 02 Mar 2020  
 
Reviewer: Ramon Martí  
 
Reviewer's report:  
 
Almost all my suggestions have been followed, but the authors still state that thymidine 
phosphorylase catalyzes PHOSPHORYLATION of dThd an d dUrd to 2 -deoxyribose 1 -
phosphate and their corresponding bases. This is not correct. The word "phosphorylation" 
must be substituted by "phosphorolysis".  
 
Phosphorylases catalyse reactions of phosphorolysis (=cleavage of the substrate by the attack 
of a p hosphate molecule, similar to hydrolysis= cleavage of the substrate by the attack of a 
water molecule).  
 
Kinases catalyse reactions of phosphorylation (=addition of a phosphate, from the ATP, to 
the substrate molecule). The enzyme that catalyzes the phophor ylation (=addition of a 
phosphate from ATP) of dThd and dUrd is Thymidine Kinase.  
 
Are the methods appropriate and well described?  
If not, please specify what is required in your comments to the authors.  
 
Yes 
 
Does the work include the necessary controls?  
If not, please specify which controls are required in your comments to the authors.  
 
Yes 
 
Are the conclusions drawn adequately supported by the data shown?  
If not, please explain in your comments to the authors.  
 
Yes 
 
Are you able to assess any statistics in th e manuscript or would you recommend an  
additional statistical review?  
If an additional statistical review is recommended, please specify what aspects require further  
assessment in your comments to the editors.  
 
Not relevant to this manuscript  
 
Quality of wri tten English  
Please indicate the quality of language in the manuscript:  
 
Acceptable  
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