4.4 Article

A new phenotype of aldolase a deficiency in a 14 year-old boy with epilepsy and rhabdomyolysis - case report

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Summary: Mutations in the ALDOA gene leading to rare disorders characterized by episodic rhabdomyolysis and hemolytic anemia. This report presents clinical, laboratory, and genetic data of two unrelated patients with ALDOA mutations, and discusses key features for diagnosis of this rare disorder by reviewing previous cases.

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