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Aldolase A deficiency: Report of new cases and literature review - ScienceDirect
Source: sciencedirect.com
Article summary:
1. Recessive mutations in the ALDOA gene are a rare cause of episodic rhabdomyolysis.
2. This report describes two novel, unrelated patients with mutations in the ALDOA gene presenting with recurrent rhabdomyloysis.
3. Patients with ALDOA deficiency show a rather homogeneous phenotype with episodes of rhabdomyolysis, associated either with hemolysis and/or learning disabilities.
Article analysis:
The article “Aldolase A Deficiency: Report of New Cases and Literature Review” is an informative and reliable source of information on Aldolase A (ALDOA) deficiency, a rare disorder caused by recessive mutations in the ALDOA gene. The article provides detailed clinical, laboratory and genetic data from two novel patients harboring mutations in the ALDOA gene who presented with episodic rhabdomyolysis, as well as a review of all previously published cases related to this disorder. The authors provide clear explanations for their findings and present evidence to support their claims. Furthermore, they discuss the most valuable features for diagnosis of this rare disorder, which is useful for medical professionals seeking to diagnose patients with similar symptoms.
The article does not appear to be biased or one-sided; it presents both sides equally and does not contain any promotional content or partiality towards any particular point of view. Additionally, possible risks associated with this disorder are noted throughout the article, providing readers with an understanding of potential complications that may arise from having this condition.
In conclusion, this article is trustworthy and reliable due to its comprehensive coverage of Aldolase A deficiency and its lack of bias or unsupported claims.