Reviewer ’s report  
 
Title: CYSTINOSIS BEYOND KIDNEYS: GASTROINTESTINAL SYSTEM AND MUSCLE  
INVOLVEMENT  
 
Version: 2 Date: 17 Jun 2020  
 
Reviewer: Research Square Reviewer 1  
 
Reviewer's report:  
 
PEER REVIEWER ASSESSMENTS:  
 
OBJECTIVE - Full research articles: is there a clear objective that address es one or several 
testable research questions? (Brief or other article types: is there a clear objective?)  
Yes - there is a clear objective  
 
DESIGN - Is the current approach (including controls and analysis protocols) appropriate for the 
objective?  
Yes - the approach is appropriate  
 
EXECUTION - Are the experiments and analyses performed with sufficient technical rigor to 
allow confidence in the results?  
Yes - experiments and analyses were performed appropriately  
 
STATISTICS - Is the use of statistics in the  manuscript appropriate?  
N/A - there are no statistics in this study  
 
INTERPRETATION - Is the current interpretation/discussion of the results reasonable and not 
overstated?  
Yes - the author's interpretation is reasonable  
 
OVERALL MANUSCRIPT POTENTIAL - Has the author addressed your concerns sufficiently 
for you to now recommend the work as a technically sound contribution? If not, can further 
revisions be made to make the work technically sound?  
Probably - with minor revisi ons 
 
PEER REVIEWER COMMENTS:  
 
GENERAL COMMENTS: Relatively well addressed, to the extent possible. While the findings 
are not novel, the authors emphasize details on recognition of gastroesophageal reflux (GER), 
possible portal hypertension, and muscle in volvement.  
Additional modifications might be difficult, given the inherent limitations in study design.  
 
REQUESTED REVISIONS:  
No revisions; authors have tried to incorporate most suggestions from the reviewers, including 
additional information on methodol ogy & results.  
Consider deleting Figs. 1 and 3  
ADDITIONAL REQUESTS/SUGGESTIONS:  
If acceptable, delete Fig. 1, 3  
 
 
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 the 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 written 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 reimbursements, 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 futu re? 
 
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 from 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.  
 
This reviewer has been recruited by a partner organization, Research Square. Reviewers with  
declared or apparent competing interests are not  utilized for these reviews. This reviewer has  
agreed to publication of their comments online under a Creative Commons Attribution License  
attributed to Research Square and was paid a small honorarium for completing the review within 
a specified timeframe.  Honoraria for reviews such as this are paid regardless of the reviewer  
recommendation.  
 
Reviewer Publication Consent. 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) if this 
manuscript  is accepted for publication. Any comments that I do not wish to be included in the 
published  report have been included as confidential comments to the edito r, which will not be 
published.  If you are not happy for us to publish this report, please contact the editorial office 
before completing  the review.If you wish, you can include your name in your published report. 
Please note you must  decide whether to incl ude your name at the start of the process and confirm 
this decision whenever  prompted. If you change your decision later, we will not be able to 
publish your name.  
 
I agree to the terms of the CC -BY 4.0 license; please publish my name with my report.  
 
Publon s Reviewer Recognition . Springer Nature can send verification of this review directly to  
Publons (a subsidiary of Clarivate Analytics). If you would like to take advantage of this service,  
please click on the “Yes” option below. Your name, email address, title of the reviewed  
manuscript, name of the journal, and date of your review submission (the “Review Data ”) will  
then be transmitted to Publons upon publication of the manuscript. If you have already registered  
at Publons, they will notify you of the receipt of this review and update your profile as per your  
settings and their policy. If you are not registered with Publons, you will receive an email from  
them asking you to register in order for them to be able to re cognize your review on your new  
profile page. Publons may use the Review Data to generate derivative metadata for the benefit of  
Publons and you as a reviewer, carefully considering the sensitivity of such information. For  
example, Publons may verify your record as a reviewer by updating your profile published on its  
webservice if you have registered for such service or help editors to identify candidate reviewers.  
Please find the details of processing in Publons ’ privacy policy https://publons.com/about/te rms 
 
No 
Reviewer ’s report  
 
Title: CYSTINOSIS BEYOND KIDNEYS: GASTROINTESTINAL SYSTEM AND MUSCLE  
INVOLVEMENT  
 
Version: 2 Date: 17 Jun 2020  
 
Reviewer: Research Square Reviewer 1  
 
Reviewer's report:  
 
PEER REVIEWER ASSESSMENTS:  
 
OBJECTIVE - Full research articles: is there a clear objective that address es one or several 
testable research questions? (Brief or other article types: is there a clear objective?)  
Yes - there is a clear objective  
 
DESIGN - Is the current approach (including controls and analysis protocols) appropriate for the 
objective?  
Yes - the approach is appropriate  
 
EXECUTION - Are the experiments and analyses performed with sufficient technical rigor to 
allow confidence in the results?  
Yes - experiments and analyses were performed appropriately  
 
STATISTICS - Is the use of statistics in the  manuscript appropriate?  
N/A - there are no statistics in this study  
 
INTERPRETATION - Is the current interpretation/discussion of the results reasonable and not 
overstated?  
Yes - the author's interpretation is reasonable  
 
OVERALL MANUSCRIPT POTENTIAL - Has the author addressed your concerns sufficiently 
for you to now recommend the work as a technically sound contribution? If not, can further 
revisions be made to make the work technically sound?  
Probably - with minor revisi ons 
 
PEER REVIEWER COMMENTS:  
 
GENERAL COMMENTS: Relatively well addressed, to the extent possible. While the findings 
are not novel, the authors emphasize details on recognition of gastroesophageal reflux (GER), 
possible portal hypertension, and muscle in volvement.  
Additional modifications might be difficult, given the inherent limitations in study design.  
 
REQUESTED REVISIONS:  
No revisions; authors have tried to incorporate most suggestions from the reviewers, including 
additional information on methodol ogy & results.  
Consider deleting Figs. 1 and 3  
ADDITIONAL REQUESTS/SUGGESTIONS:  
If acceptable, delete Fig. 1, 3  
 
 
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 the 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 written 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 reimbursements, 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 futu re? 
 
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 from 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.  
 
This reviewer has been recruited by a partner organization, Research Square. Reviewers with  
declared or apparent competing interests are not  utilized for these reviews. This reviewer has  
agreed to publication of their comments online under a Creative Commons Attribution License  
attributed to Research Square and was paid a small honorarium for completing the review within 
a specified timeframe.  Honoraria for reviews such as this are paid regardless of the reviewer  
recommendation.  
 
Reviewer Publication Consent. 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) if this 
manuscript  is accepted for publication. Any comments that I do not wish to be included in the 
published  report have been included as confidential comments to the edito r, which will not be 
published.  If you are not happy for us to publish this report, please contact the editorial office 
before completing  the review.If you wish, you can include your name in your published report. 
Please note you must  decide whether to incl ude your name at the start of the process and confirm 
this decision whenever  prompted. If you change your decision later, we will not be able to 
publish your name.  
 
I agree to the terms of the CC -BY 4.0 license; please publish my name with my report.  
 
Publon s Reviewer Recognition . Springer Nature can send verification of this review directly to  
Publons (a subsidiary of Clarivate Analytics). If you would like to take advantage of this service,  
please click on the “Yes” option below. Your name, email address, title of the reviewed  
manuscript, name of the journal, and date of your review submission (the “Review Data ”) will  
then be transmitted to Publons upon publication of the manuscript. If you have already registered  
at Publons, they will notify you of the receipt of this review and update your profile as per your  
settings and their policy. If you are not registered with Publons, you will receive an email from  
them asking you to register in order for them to be able to re cognize your review on your new  
profile page. Publons may use the Review Data to generate derivative metadata for the benefit of  
Publons and you as a reviewer, carefully considering the sensitivity of such information. For  
example, Publons may verify your record as a reviewer by updating your profile published on its  
webservice if you have registered for such service or help editors to identify candidate reviewers.  
Please find the details of processing in Publons ’ privacy policy https://publons.com/about/te rms 
 
No 
Please review this paper.
user
Reviewer ’s report  
 
Title: CYSTINOSIS BEYOND KIDNEYS: GASTROINTESTINAL SYSTEM AND MUSCLE  
INVOLVEMENT  
 
Version: 2 Date: 17 Jun 2020  
 
Reviewer: Research Square Reviewer 1  
 
Reviewer's report:  
 
PEER REVIEWER ASSESSMENTS:  
 
OBJECTIVE - Full research articles: is there a clear objective that address es one or several 
testable research questions? (Brief or other article types: is there a clear objective?)  
Yes - there is a clear objective  
 
DESIGN - Is the current approach (including controls and analysis protocols) appropriate for the 
objective?  
Yes - the approach is appropriate  
 
EXECUTION - Are the experiments and analyses performed with sufficient technical rigor to 
allow confidence in the results?  
Yes - experiments and analyses were performed appropriately  
 
STATISTICS - Is the use of statistics in the  manuscript appropriate?  
N/A - there are no statistics in this study  
 
INTERPRETATION - Is the current interpretation/discussion of the results reasonable and not 
overstated?  
Yes - the author's interpretation is reasonable  
 
OVERALL MANUSCRIPT POTENTIAL - Has the author addressed your concerns sufficiently 
for you to now recommend the work as a technically sound contribution? If not, can further 
revisions be made to make the work technically sound?  
Probably - with minor revisi ons 
 
PEER REVIEWER COMMENTS:  
 
GENERAL COMMENTS: Relatively well addressed, to the extent possible. While the findings 
are not novel, the authors emphasize details on recognition of gastroesophageal reflux (GER), 
possible portal hypertension, and muscle in volvement.  
Additional modifications might be difficult, given the inherent limitations in study design.  
 
REQUESTED REVISIONS:  
No revisions; authors have tried to incorporate most suggestions from the reviewers, including 
additional information on methodol ogy & results.  
Consider deleting Figs. 1 and 3  
ADDITIONAL REQUESTS/SUGGESTIONS:  
If acceptable, delete Fig. 1, 3  
 
 
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 the 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 written 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 reimbursements, 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 futu re? 
 
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 from 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.  
 
This reviewer has been recruited by a partner organization, Research Square. Reviewers with  
declared or apparent competing interests are not  utilized for these reviews. This reviewer has  
agreed to publication of their comments online under a Creative Commons Attribution License  
attributed to Research Square and was paid a small honorarium for completing the review within 
a specified timeframe.  Honoraria for reviews such as this are paid regardless of the reviewer  
recommendation.  
 
Reviewer Publication Consent. 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) if this 
manuscript  is accepted for publication. Any comments that I do not wish to be included in the 
published  report have been included as confidential comments to the edito r, which will not be 
published.  If you are not happy for us to publish this report, please contact the editorial office 
before completing  the review.If you wish, you can include your name in your published report. 
Please note you must  decide whether to incl ude your name at the start of the process and confirm 
this decision whenever  prompted. If you change your decision later, we will not be able to 
publish your name.  
 
I agree to the terms of the CC -BY 4.0 license; please publish my name with my report.  
 
Publon s Reviewer Recognition . Springer Nature can send verification of this review directly to  
Publons (a subsidiary of Clarivate Analytics). If you would like to take advantage of this service,  
please click on the “Yes” option below. Your name, email address, title of the reviewed  
manuscript, name of the journal, and date of your review submission (the “Review Data ”) will  
then be transmitted to Publons upon publication of the manuscript. If you have already registered  
at Publons, they will notify you of the receipt of this review and update your profile as per your  
settings and their policy. If you are not registered with Publons, you will receive an email from  
them asking you to register in order for them to be able to re cognize your review on your new  
profile page. Publons may use the Review Data to generate derivative metadata for the benefit of  
Publons and you as a reviewer, carefully considering the sensitivity of such information. For  
example, Publons may verify your record as a reviewer by updating your profile published on its  
webservice if you have registered for such service or help editors to identify candidate reviewers.  
Please find the details of processing in Publons ’ privacy policy https://publons.com/about/te rms 
 
No 
assistant