Title: Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency: Clinical Features, Genetic
Characteristics, and Treatment Outcomes
Version: 5 Date: 18 Apr 2025
Reviewer's report:
Dear authors,
Thank you for the revised version of the manuscript. All open questions and remarks have been
address and the  manuscript has been revised accordingly. however, several minor issues remain
that require correction before publication:
Incorrect spacing and punctuation are still present throughout the manuscript.
Lines 72, 167, 195, and elsewhere: The gene symbol "SLC25A13" should be italicized
consistently.
Line 88: The variant notation “c.1177+1G4A” is incorrect. Please revise according to standard
nomenclature.
Line 124: Replace “whole-exon sequencing” with the correct term “whole exome sequencing.”
Line 160: The sentence "Notably, none of the infants exhibited pruritus" may be ambiguous
since infants cannot verbally report pruritus. Consider rephrasing this sentence to indicate clearly
the absence of observable indirect signs (e.g., scratching or skin irritation).
Line 174: Correct variant notation from “(p.R467)*” to the standard form “(p.R467*)”.
Line 202: Use standard notation “c.852_855del/c.615+5G>A” instead of “c.852_855del
+c.615+5G>A”.
Lines 207 and 297: Replace “c.1399C>T+c.1638_1660dup case” with “the case with compound
heterozygous c.1399C>T/c.1638_1660dup.”
Lines 219 and 264: Change “c.852_855del+c.615+5G>A compound heterozygotes” to
“individuals who were compound heterozygous for c.852_855del/c.615+5G>A.”
Lines 223 and 284: Confirm consistent usage of “compound heterozygous c.1399C>T/
c.1638_1660dup.”
Line 226: Correct punctuation error "disorder“.".
Standardize the variant naming convention, as currently there are inconsistencies
(“c.851_854del,” “851-854del,” and “c.851_854del4”). Confirm and correct to standard
nomenclature. Please clarify whether “c.851_854del” and “c.852_855del” represent the same
variant (rs80338720).
Line 257: Specify clearly the ACMG criteria fulfilled (e.g., PM2, PM3).
Reference 7 is incorrect. Please revise all references thoroughly according to journal guidelines.
Table 1 and its supplementary material: Correct all instances of "sclera licterus" to "scleral
icterus."
Thank you for addressing these final issues carefully to ensure the manuscript meets publication
standards.
Best Regards,
Title: Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency: Clinical Features, Genetic
Characteristics, and Treatment Outcomes
Version: 5 Date: 18 Apr 2025
Reviewer's report:
Dear authors,
Thank you for the revised version of the manuscript. All open questions and remarks have been
address and the  manuscript has been revised accordingly. however, several minor issues remain
that require correction before publication:
Incorrect spacing and punctuation are still present throughout the manuscript.
Lines 72, 167, 195, and elsewhere: The gene symbol "SLC25A13" should be italicized
consistently.
Line 88: The variant notation “c.1177+1G4A” is incorrect. Please revise according to standard
nomenclature.
Line 124: Replace “whole-exon sequencing” with the correct term “whole exome sequencing.”
Line 160: The sentence "Notably, none of the infants exhibited pruritus" may be ambiguous
since infants cannot verbally report pruritus. Consider rephrasing this sentence to indicate clearly
the absence of observable indirect signs (e.g., scratching or skin irritation).
Line 174: Correct variant notation from “(p.R467)*” to the standard form “(p.R467*)”.
Line 202: Use standard notation “c.852_855del/c.615+5G>A” instead of “c.852_855del
+c.615+5G>A”.
Lines 207 and 297: Replace “c.1399C>T+c.1638_1660dup case” with “the case with compound
heterozygous c.1399C>T/c.1638_1660dup.”
Lines 219 and 264: Change “c.852_855del+c.615+5G>A compound heterozygotes” to
“individuals who were compound heterozygous for c.852_855del/c.615+5G>A.”
Lines 223 and 284: Confirm consistent usage of “compound heterozygous c.1399C>T/
c.1638_1660dup.”
Line 226: Correct punctuation error "disorder“.".
Standardize the variant naming convention, as currently there are inconsistencies
(“c.851_854del,” “851-854del,” and “c.851_854del4”). Confirm and correct to standard
nomenclature. Please clarify whether “c.851_854del” and “c.852_855del” represent the same
variant (rs80338720).
Line 257: Specify clearly the ACMG criteria fulfilled (e.g., PM2, PM3).
Reference 7 is incorrect. Please revise all references thoroughly according to journal guidelines.
Table 1 and its supplementary material: Correct all instances of "sclera licterus" to "scleral
icterus."
Thank you for addressing these final issues carefully to ensure the manuscript meets publication
standards.
Best Regards,
Please review this paper.
user
Title: Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency: Clinical Features, Genetic
Characteristics, and Treatment Outcomes
Version: 5 Date: 18 Apr 2025
Reviewer's report:
Dear authors,
Thank you for the revised version of the manuscript. All open questions and remarks have been
address and the  manuscript has been revised accordingly. however, several minor issues remain
that require correction before publication:
Incorrect spacing and punctuation are still present throughout the manuscript.
Lines 72, 167, 195, and elsewhere: The gene symbol "SLC25A13" should be italicized
consistently.
Line 88: The variant notation “c.1177+1G4A” is incorrect. Please revise according to standard
nomenclature.
Line 124: Replace “whole-exon sequencing” with the correct term “whole exome sequencing.”
Line 160: The sentence "Notably, none of the infants exhibited pruritus" may be ambiguous
since infants cannot verbally report pruritus. Consider rephrasing this sentence to indicate clearly
the absence of observable indirect signs (e.g., scratching or skin irritation).
Line 174: Correct variant notation from “(p.R467)*” to the standard form “(p.R467*)”.
Line 202: Use standard notation “c.852_855del/c.615+5G>A” instead of “c.852_855del
+c.615+5G>A”.
Lines 207 and 297: Replace “c.1399C>T+c.1638_1660dup case” with “the case with compound
heterozygous c.1399C>T/c.1638_1660dup.”
Lines 219 and 264: Change “c.852_855del+c.615+5G>A compound heterozygotes” to
“individuals who were compound heterozygous for c.852_855del/c.615+5G>A.”
Lines 223 and 284: Confirm consistent usage of “compound heterozygous c.1399C>T/
c.1638_1660dup.”
Line 226: Correct punctuation error "disorder“.".
Standardize the variant naming convention, as currently there are inconsistencies
(“c.851_854del,” “851-854del,” and “c.851_854del4”). Confirm and correct to standard
nomenclature. Please clarify whether “c.851_854del” and “c.852_855del” represent the same
variant (rs80338720).
Line 257: Specify clearly the ACMG criteria fulfilled (e.g., PM2, PM3).
Reference 7 is incorrect. Please revise all references thoroughly according to journal guidelines.
Table 1 and its supplementary material: Correct all instances of "sclera licterus" to "scleral
icterus."
Thank you for addressing these final issues carefully to ensure the manuscript meets publication
standards.
Best Regards,
assistant