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  
Declaration of competing interests  
Please complete a declaration of competing interests, considering the following questions:  
 
1. Have you in the past five years received rei mbursements, fees, funding, or salary from 
an organisation that may in any way gain or lose financially from the publication of 
this manuscript, either now or in the future?  
 
2. Do you hold any stocks or shares in an organisation that may in any way gain or  lose 
financially from the publication of this manuscript, either now or in the future?  
 
3. Do you hold or are you currently applying for any patents relating to the content of 
the manuscript?  
 
4. Have you received reimbursements, fees, funding, or salary fr om an organization that 
holds  or has applied for patents relating to the content of the manuscript?  
 
5. Do you have any other financial competing interests?  
 
6. Do you have any non -financial competing interests in relation to this paper?  
 
If you can answer no  to all of the above, write 'I declare that I have no competing interests' 
below.  If your reply is yes to any, please give details below.  
 
I declare that I have no competing interests  
 
I agree to the open peer review policy of the journal. I understand that my name will be 
included  on my report to the authors and, if the manuscript is accepted for publication, my 
named report  including any attachments I upload will be posted on the websi te along with the 
authors'  responses. I agree for my report to be made available under an Open Access Creative 
Commons  CC-BY license ( http://creativecommons.org/licenses/by/4.0/ ). I understand that 
any comments  which I do not wish to be included in my name d report can be included as 
confidential comments  to the editors, which will not be published.  
 
I agree to the open peer review policy of the journal  
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  
Declaration of competing interests  
Please complete a declaration of competing interests, considering the following questions:  
 
1. Have you in the past five years received rei mbursements, fees, funding, or salary from 
an organisation that may in any way gain or lose financially from the publication of 
this manuscript, either now or in the future?  
 
2. Do you hold any stocks or shares in an organisation that may in any way gain or  lose 
financially from the publication of this manuscript, either now or in the future?  
 
3. Do you hold or are you currently applying for any patents relating to the content of 
the manuscript?  
 
4. Have you received reimbursements, fees, funding, or salary fr om an organization that 
holds  or has applied for patents relating to the content of the manuscript?  
 
5. Do you have any other financial competing interests?  
 
6. Do you have any non -financial competing interests in relation to this paper?  
 
If you can answer no  to all of the above, write 'I declare that I have no competing interests' 
below.  If your reply is yes to any, please give details below.  
 
I declare that I have no competing interests  
 
I agree to the open peer review policy of the journal. I understand that my name will be 
included  on my report to the authors and, if the manuscript is accepted for publication, my 
named report  including any attachments I upload will be posted on the websi te along with the 
authors'  responses. I agree for my report to be made available under an Open Access Creative 
Commons  CC-BY license ( http://creativecommons.org/licenses/by/4.0/ ). I understand that 
any comments  which I do not wish to be included in my name d report can be included as 
confidential comments  to the editors, which will not be published.  
 
I agree to the open peer review policy of the journal  
Please review this paper.
user
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  
Declaration of competing interests  
Please complete a declaration of competing interests, considering the following questions:  
 
1. Have you in the past five years received rei mbursements, fees, funding, or salary from 
an organisation that may in any way gain or lose financially from the publication of 
this manuscript, either now or in the future?  
 
2. Do you hold any stocks or shares in an organisation that may in any way gain or  lose 
financially from the publication of this manuscript, either now or in the future?  
 
3. Do you hold or are you currently applying for any patents relating to the content of 
the manuscript?  
 
4. Have you received reimbursements, fees, funding, or salary fr om an organization that 
holds  or has applied for patents relating to the content of the manuscript?  
 
5. Do you have any other financial competing interests?  
 
6. Do you have any non -financial competing interests in relation to this paper?  
 
If you can answer no  to all of the above, write 'I declare that I have no competing interests' 
below.  If your reply is yes to any, please give details below.  
 
I declare that I have no competing interests  
 
I agree to the open peer review policy of the journal. I understand that my name will be 
included  on my report to the authors and, if the manuscript is accepted for publication, my 
named report  including any attachments I upload will be posted on the websi te along with the 
authors'  responses. I agree for my report to be made available under an Open Access Creative 
Commons  CC-BY license ( http://creativecommons.org/licenses/by/4.0/ ). I understand that 
any comments  which I do not wish to be included in my name d report can be included as 
confidential comments  to the editors, which will not be published.  
 
I agree to the open peer review policy of the journal  
assistant