Reviewer's report
Title:A novel mutation within the lactase gene (LCT): the first case report of
congenital lactase deficiency diagnosed in Central Europe
Version:1Date:19 June 2015
Reviewer: Daniel Agardh
Reviewer's report:
Minor Essential Revisions:
This case report demonstrates a novel mutation in the lactase gene (LCT). The
report is of importance for physicians taking care of these patients. The case
report is well written and clearly presented. I do however think the authors should
consider to rephrase in their conclusion that intestinal biopsies are obsolete and
should be replaced by genetic testing. This is true if the genetic testing is
positive, as in this particular case, but there are also other rare congenital
conditions affecting the intestinal tract that needs to be confirmed by an intestinal
biopsy. I would suggest to phrase it: b) intestinal biopsies can be avoided in
typical cases that are confirmed by genetic testing.
Level of interest: An article of importance in its field
Quality of written English: Acceptable
Statistical review: No, the manuscript does not need to be seen by a statistician.
Declaration of competing interests:
'I declare that I have no competing interests'
Reviewer's report
Title:A novel mutation within the lactase gene (LCT): the first case report of
congenital lactase deficiency diagnosed in Central Europe
Version:1Date:19 June 2015
Reviewer: Daniel Agardh
Reviewer's report:
Minor Essential Revisions:
This case report demonstrates a novel mutation in the lactase gene (LCT). The
report is of importance for physicians taking care of these patients. The case
report is well written and clearly presented. I do however think the authors should
consider to rephrase in their conclusion that intestinal biopsies are obsolete and
should be replaced by genetic testing. This is true if the genetic testing is
positive, as in this particular case, but there are also other rare congenital
conditions affecting the intestinal tract that needs to be confirmed by an intestinal
biopsy. I would suggest to phrase it: b) intestinal biopsies can be avoided in
typical cases that are confirmed by genetic testing.
Level of interest: An article of importance in its field
Quality of written English: Acceptable
Statistical review: No, the manuscript does not need to be seen by a statistician.
Declaration of competing interests:
'I declare that I have no competing interests'
Please review this paper.
user
Reviewer's report
Title:A novel mutation within the lactase gene (LCT): the first case report of
congenital lactase deficiency diagnosed in Central Europe
Version:1Date:19 June 2015
Reviewer: Daniel Agardh
Reviewer's report:
Minor Essential Revisions:
This case report demonstrates a novel mutation in the lactase gene (LCT). The
report is of importance for physicians taking care of these patients. The case
report is well written and clearly presented. I do however think the authors should
consider to rephrase in their conclusion that intestinal biopsies are obsolete and
should be replaced by genetic testing. This is true if the genetic testing is
positive, as in this particular case, but there are also other rare congenital
conditions affecting the intestinal tract that needs to be confirmed by an intestinal
biopsy. I would suggest to phrase it: b) intestinal biopsies can be avoided in
typical cases that are confirmed by genetic testing.
Level of interest: An article of importance in its field
Quality of written English: Acceptable
Statistical review: No, the manuscript does not need to be seen by a statistician.
Declaration of competing interests:
'I declare that I have no competing interests'
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