Yayıncı "Bulgaria: Meditsinski Universitet - Sofia" MAKALELER için listeleme
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Galactosialidosis in a Newborn With a Novel Mutation in the CTSA Gene Presenting With Transient Hyperparathyroidism
(Bulgaria: Meditsinski Universitet - Sofia, 2017-12-29)Galactosialidosis is a lysosomal storage disease caused by deficiency of protective protein that is encoded by CTSA gene localized on chromosome 20q13.1. Mutations of this gene are the cause of galactosialidosis result in ...